Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically
Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in paediatric age Endocrine tumour Ewing Sarcoma Leukaemia Gliomas Lymphoma Gonadal sex cord and stromal tumours Multiple endocrine neoplasia Hereditary breast and ovarian cancer due to Multiple Myeloma BRCA1, BRCA2 and other gene mutations Paediatric cancers Hereditary Cancer Pseudomyxoma peritonei Histiocitosis Retinoblastoma Leukaemia Systemic mastocytosis
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Lymphoma Von Hippel-Lindau disease Lung Cancer Waldenström macroglobulinemia Malignant peripheral nerve sheet tumour X-linked lymphoproliferative Malignant Pleural Mesothelioma disease Medulloblastoma Melanoma Mesothelioma Myoepithelial carcinoma in children Nasopharyngeal carcinomas NETs Neuro-endocrine Tumours Neurofibromatosis Pancreatic tumours (Pancreatoblastoma) Paediatric extracranial germ cell tumours Paediatric GIST Paediatric liver tumours: Hepatoblastoma and Hepatocellular carcinoma Paediatric Melanoma Paediatric vascular tumours: Kaposiform hemangioendothelioma Pheochromocytoma and Paraganglioma Paediatric very rare tumours: Gonadal sex cord and stromal tumours Pilocytic astrocytoma Pleuropulmonary Blastoma Pons glioma Rare head and neck Neurofibromatosis Rare tumours Retinoblastoma Schwannomatosis Thymoma Thyroid carcinomas Tuberous Sclerosis Uveal Melanoma Von Hippel Lindau disease Rare Cardiac Adult congenital Heart Disease Brugada syndrome Anomalous coronary arteries/ALCAPA Cardiac disease, rare Aortic Pathology Cardiomyopathy, familial dilated Arrhythmogenic right ventricular dysplasia Heart malformation, congenital (DVAD) Long QT syndrome, familial Atresia of cardiac valves Brugada syndrome Common AV canal Coarctation of aorta Congenital heart defects Dilated cardiomyopathy (CMD) Double left and right ventricles Ebstein’s anomaly Genetic/familial cardiomyopathies (like DCM,
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
HCM, ARVC, LVNC) Hypertrophic cardiomyopathy (CMH) Hypoplastic left heart syndrome Hypoplastic right heart syndrome Inherited Cardiac diseases Laminopathies Long congenital QT syndrome Paediatric Cardiology Paediatric hypertrophic cardiomyopathy Paediatric inherited arrhythmia syndromes Paediatric pulmonary hypertension Polymorphic ventricular tachycardia (TVPC) Primary arrhythmia syndromes (like long QT syndrome, Brugada syndrome, idiopathic VF, CPVT). Taussig-Bing anomaly Tetralogy of Fallot Transposition of great arteries Turner Syndrome Vascular Ring Rare Connective AA amyloidosis Ehlers-Danlos syndrome Tissues and AL amyloidosis Marfan syndrome Musculoskeletal ANCA vasculitis Osteogenesis imperfecta Arthrogryposis multiplex congenital Scleroderma ATTR amyloidosis Sjögren syndrome Bicuspid aortic valve with thoracic aortic Pseudoxanthoma elasticum aneurysm Congenital club foot Ectopia lentis Ehlers-Danlos syndrome Familial forms of BAV Familial thoracic aortic aneurysms and dissections (FTAAD) Giant Cell Arteritis Goldenhar syndrome Inflammatory myositis Juvenile Scleroderma Klippel-Feil syndrome Larsen syndrome LDS Localized amyloidosis Loeys-Dietz syndrome Lupus Lupus Nephritis Marfan syndrome Moebius syndrome Neurofibromatosis OAS Paediatric rheumatic conditions
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Pseduxanthoma Elasticum SLE Sprengel deformity Stickler syndrome Sturge-Weber Systemic amyloidosis Systemic Lupus Erythematosus Systemic Sclerosis Takayasu disease Tuberous sclerosis Rare Aglossia Apert syndrome Craniofacial and Anotia Crouzon disease ENT Cleft lip Pfeiffer Cleft palate Esophageal atresia Craniofacial tumours Craniofacial syndromes (e.g. Crouzon, Apert etc.) Craniosynostosis Deafness mitochondrial Facial microsomia Facial Cleft Genetic deafness: isolated and syndromic deafness Genetic hearing loss and hearing impairment Giant nevus and congenital cutaneous dysplasia Hemifacial Microsomia Isolated Craniosynostosis Lateral Cleft Macroglossia Microglossia Microdeletion syndromes connected with cleft lip and palate and with midline developmental anomalies Microcephaly Encephaloceles including basal Mandibulofacial Dysostosis Microtia, Artesia and Craniofacial Microsomia Midline dermoid Nasal aplasia Nose and skull base anomalies e.g. Treacher Collins, Goldenhar, Pierre robin, 22q11 microdeletion, CHARGE. Oral commissure cleft Orbitofacial cleft Oto-Mandibular Dysplasia Proboscis Rare Maxillofacial surgical disorders Rare otorhinolaryngologic malformations and laryngotracheal anomalies
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Recurrent respiratory/Tracheal papillomatosis (RRP) Syndrome Craniosynostosis Van der Woude Syndrome Vascular malformations Rare Endocrine 5 alpha reductase deficiency Acquired generalized lipodystrophy Acromegaly Acromegaly Addison's disease Addison's disease Adrenal hormone deficiency Albright hereditary osteodystrophy Adrenal disorders including Cushing syndrome, Alström syndrome hypoadrenalism and Congenital Adrenal Cushing disease Hyperplasia Growth hormone deficiency, Adrenocortical cancer isolated, genetic forms Bone Disorders Hypoparathyroidism familial Carney complex isolated Complete Androgen Insensitivity Hypothyroidism, congenital Congenital Adrenal Hyperplasie Hypoparathyroidism familial Cushing’s Disease isolated Disorders of puberty Pituitary deficiency Disorders of Sex Development Short stature due to growth Endocrine Hypertension hormone resistance Familial Endocrine Tumour syndromes Turner syndrome Growth disorders including GH deficiency, Hypopituitarism and Septa-optic dysplasia Hereditary endocrine tumours and tumour syndromes Homozygous Familial Hypercholesterolemia Klinefelter Syndrome Lysosomal Acid Lipase deficiency Macronodular adrenal hyperplasia Monogenic diabetes Multiple Endocrine Neoplasia Type 1 and Type 2 Neonatal hyperinsulinism Non-functioning pituitary adenoma Paraganglioma Partial Androgen insensitivity Pheochromocytoma Pituitary Diseases Prader-Willi Syndrome Rare causes of Primary Hyperaldosteronism Rare congenital syndromes requiring endocrine treatment (growth hormone): Turner syndrome, Noonan, Rare disorders of calcium metabolism Rare forms of Diabetes Rare neuroendocrine disorders such as late effects of brain tumours pheochromocytoma/paraganglioma- primary
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
aldosteronism- adrenal incidentaloma Russell Silver Syndrome. Sporadic Medullary Thyroid cancer Tangier Disease Thyroid disorders - thyroid dyshormonogenesis Von Hippel Lindau Rare Eye Anophtalmos/microphthalmos Aniridia Diseases Anti-MOG optic neuritis and other forms of WAGR syndrome autoimmune mediated aetiologies of optic Blindness neuropathies Leber hereditary optic neuropathy Chronic relapsing inflammatory optic Retinitis pigmentosa neuropathy (CRION) Septooptic dysplasia Congenital cataract Usher syndrome Congenital glaucoma Uveitis, adult Congenital stationary night blindness Genetic vitreous retinal disease Inflammatory eye diseases with a special interest in non-infectious and infectious uveitis in adults and children Isolated optic neuritis (ION) Multiple sclerosis optic neuritis (MSON) Neuromyelitis optica optic neuritis (NMO-ON) Neurophthalmological disorders Ocular myasthenia gravis Oculocutaneous and ocular albinism and cerebral visual impairment in children Optic neuropathies Relapsing optic neuritis (RION) Systemic diseases or genetic predisposition like Birdshot chorioretinopathy and HLA B27 associated uveitis Rare ACNES Crohn disease Gastrointestinal All Atresia’s (oesophagus, duodenum, small Oesophageal Atresia and large intestine, anal) Familial adenomatous polyposis Chronic pseudo-obstruction Intestinal pseudoobstruction Diaphragmatic hernia chronic idiopathic Functional short bowel syndrome due to Pancreatitis intestinal fistula following abdominal infection or surgery gastroschisis M. Hirschsprung Inflammatory bowel disease Motility disorder Necrotizing enterocolitis Omphalocele Radiation enteritis Short bowel syndrome Rare Adenocarcinoma Mayer-Rokitansky-Küster-Hauser Gynaecological Malignant epithelial tumour of the ovary syndrome and Obstetric Rare cancer of the cervix uteri, including
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
squamous cell carcinoma Rare vulvovaginal tumour Squamous cell carcinoma of vulva Rare Aceruloplasminemia Alpha-thalassemia / Beta- Haematological All rare non-oncological/benign thalassemia haematological diseases Angioedema, hereditary Atransferrinemia Aplastic anaemia DMT-1 deficiency Dyserythropoietic anaemia, Endoplasmic reticulum related defects leading congenital to neutropenia Fanconi anaemia Genetic hyperferritinemia without iron Haematological diseases overload Hemochromatosis Haemophilia Haemophilia Hereditary Hemochromatosis, with particular Langerhans cell histiocytosis reference to rare forms of "non-HFE" Myeloproliferative disease, adult, Hemochromatosis rare Hereditary Hyperferritinemia-Cataract Paroxysmal nocturnal Syndrome haemoglobinuria Iron Loading Anaemias Shwachman-diamond syndrome Iron Refractory Anaemia (IRIDA) due to Sickle cell anaemia mutations in TMPRSS-6 Thrombocytopenic purpura, Multiple myeloma autoimmune Myelodysplastic syndrome Polycythaemia Rare anaemias Severe chronic neutropenia type IV - G6PC3 deficiency Sickle cell disease Systemic mastocytosis Thalassemia Thrombotic microangiopathies such as thrombotic thrombocytopenic purpura (TTP) and haemolytic uremic syndrome (HUS) Von Gierke disease type I Von Willebrand Disease and other allied bleeding disorders Rare Hepatic Atresia of bile ducts Hepatic diseases Autoimmune liver disease, to include PBS/PSC Metabolic liver disease, paediatric, and AIH/AISC rare Genetic liver disease, to include cholestasis in Primary sclerosing cholangitis children and adults, Biliary atresia and ALF in Wilson’s disease Infants. Non-alcoholic fatty liver disease (NAFLD) Rare liver cancers, to include cholangiocarcinoma and fibrolamellar HCC Wilson’s Disease
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Rare Hereditary 3-methylcrotonyl glycinuria Acyl-CoA dehydrogenase, medium Metabolic 3-methylglutaconic aciduria chain, deficiency 3-oxothiolase deficiency Adrenoleukodystrophy, X-linked Biotinidase deficiency Alkaptonuria Carnitine transport disorders (carnitine uptake CDG syndrome deficiency, CPT I-II, SCAD, MCAD, LCHAD, Cystinosis VLCADCGD Fabry disease Citrullinemia Gaucher’s disease Disorders of mitochondrial fatty acid oxidation Glycogen storage disease Fabry disease Hypophosphatasia Galactosaemia Hyperglycinemia, isolated Gaucher’s disease nonketotic Hepatic glycogen storage disorders Lesch-Nyhan syndrome Hepatic metabolic diseases Lysosomal disease Homocystinuria Mitochondrial disease Lysosomal Acid Lipase Deficit Mucopolysaccharidosis Lysosomal storage disorders Niemann-Pick Metabolic myopathies Phenylketonuria Niemann-Pick A/B Sanfilippo syndrome type C Niemann-Pick C (Mucopolysaccharidose type 3C) Organic acidemias (propionic academia) Tay-Sachs disease/Sandhoff disease Organic acidurias (propionic aciduria, Trimethylaminuria methylmalonic aciduria, glutaric acidurias, HMG-CoA lyase deficiency). Peroxisomal defects Phenylketonuria Sanfilippo Syndrome Smith-Lemli Opitz syndrome Tetrahydrobiopterin defects Tyrosinemia Urea Cycle Disorders Von Gierke disease Rare ANCA vasculitis Amyloidosis Immunological Auto inflammatory diseases such as FMF, HIDS, Familial hemophagocytic and Auto- TRAPS, CAPS, angioedema, hereditary lymphohistiocytosis (FHL) inflammatory angioedema (HAE). Immunodeficiency, primary Autoimmune bullous dermatoses Juvenile arthritis, idiopathic Behcet’s Disease Benign Hypermobility syndrome Lupus erythematosus C1-inhibitor deficiency Mediterranean fever, familial Chronic Inflammatory Demyelinating Muckle-Wells syndrome Polyneuropathy (CIDP) Relapsing polychondritis Connectives tissues diseases, particularly SAPHO syndrome systemic sclerosis inflammatory myositis Scleroderma Erythromelalgia Sjögren syndrome Freiberg's disease Giant Cell Arteritis Growing Pains/'recurrent nocturnal limb pain in children'
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Guillain-Barre Syndrome (GBS) Henoch-Scholein Purpura Juvenile Dermatomyositis Juvenile Idiopathic Arthritis (JIA) Juvenile Spondyloarthritis/Enthesitis Related Arthritis (Spa-Era) Kawasaki disease Legg-Calvé-Perthes disease Limb Pain syndromes (Fibromyalgia syndrome) Localized Idiopathic Musculoskeletal Pain syndrome Lyme disease MALT lymphoma associated with Sjogren's disease Multifocal Motor Neuropathy (MMN) Myasthenia Gravis (MG) Osgood-Schlatter Disease Osteochondrosis Patellofemoral Pain Primary Immunodeficiencies Rare Juvenile Primary Systemic Vasculitis Rare systemic autoimmune vasculitis, including ANCA vasculitis, EGPA, anti-GBM disease, Takayasu's arteritis, Cogan's syndrome Rheumatic Fever Scheuermann's disease Sever's disease Sjogren’s disease (including MALT lymphoma) Systemic amyloidosis Slipped Capital Femoral Epiphysis Systemic autoimmune disease Systemic lupus erythematosus (SLE) Systemic sclerosis (SSC) Takayasu's disease Transient Synovitis Tumour of hematopoietic and lymphoid tissues Rare Anorectal Malformations Angelman syndrome Malformations, Asperger syndrome CHARGE association Congenital BAF complex disorders (e.g. Coffin-Siris) Chromosome anomalies Anomalies and Biliairy Atresia Ciliopathies rare intellectual Beckwith-Wiedemann syndrome Cornelia de Lange syndrome disorders Bowel Atresia Costello syndrome CHARGE syndrome Embryopathy Cohesinopathies Foetal valproic syndrome Cornelia de Lange syndrome Fragile X syndrome Developmental anomalies Intellectual deficiency with Down syndrome developmental anomaly, rare Filippi syndrome Jacobsen syndrome Fragile-X syndrome Joubert syndrome
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Gastroschisis Klinefelter syndrome Genetic Intellectual Disability Limb hypoplasia - limb reduction Loeys-Dietz syndrome defect Marshall-Smith syndrome Lowe syndrome Microdeletion syndromes in connection with Marshall-Smith syndrome developmental anomalies & rare intellectual McCune-Albright syndrome disabilities Moebius syndrome Multiple anomaly syndromes (RAS-MAP, Moebius syndrome, Monosomy Cohen, Williams, Ohdo, Genitopatellar, Kabuki, 22q11, Monosomy 5p Treacher Collins and other spliceosome Noonan syndrome disorders). Poland anomaly Ochoa syndrome Prader-Willi syndrome Perrault syndrome, Ring chromosome 20 Phelan-McDermid syndrome Spina bifida Pitt-Hopkins syndrome Syringomyelia Rare chromosome disorders, in particular Tetrasomy 12p Phelan-McDermid syndrome Thalidomide Rare intellectual disability syndromes including Trisomy 18 Angelman, Pitt Hopkins, Rett, Mowat-Wilson, X Williams syndrome linked ID. RASopathies Rubinstein-Taybi syndrome Undiagnosed multiple anomaly syndromes Rare Aneurysm Osteoarthritis syndrome Behcet disease Multisystemic Aortopathies Cerebral cavernous malformations Vascular Arterial Tortuosity syndrome Familial aortic dissection Beals syndrome Rendu-Osler-Weber disease Bicuspid Aortic Valve disease Sturge-Weber syndrome Buerger Arteritis Vascular disease, rare Congenital Heart disease Vasculitis Cutis Laxa syndrome Ectopia Lentis Fabry disease Familial thoracic aortic aneurysms Heritable Thoracic Aortic disease Kawasaki disease Klippel–Trénaunay syndrome Klinefelter syndrome Inborn lymphatic diseases Loeys Dietz syndrome Marfan syndrome OAS Primary lymphedema Primitive Cardiomyopathy Pulmonary Hypertension Takayasu disease Turner syndrome Vascular Ehlers Danlos syndrome Rare 4H syndrome Aicardi syndrome
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Neurological ADEM Alternating hemiplegia Autoimmune encephalitis Amyotrophic lateral sclerosis Autoimmune epilepsies Anoxic seizures Brain Arteriovenous malformation (BAVM) Arachnoid cyst Cerebrovascular malformations Arnold-Chiari malformation Chronic relapsing inflammatory optic Aromatic L-aminoacid neuropathy (CRION) decarboxylase deficiency Complex occlusive cerebral arteriopathies Ataxia, adult Complex paediatric cerebrovascular disease Arnold-Chiari malformation Disorders mimicking cerebral palsy Cerebellar ataxia, autosomal Dural Arteriovenous Fistula (DAVF) dominant Dystonia Ceroid lipofuscinosis, neuronal Early Infantile Epileptic Encephalopathies Complex regional pain syndrome Epilepsy with continuous spike-waves during Dravet syndrome sleep Dystonia Functional movement disorders Facioscapulohumeral muscular Genetic epilepsies dystrophy Hereditary ataxias Friedreich ataxia Hereditary spastic paraplegias Gelineau disease Huntington disease Hereditary spastic paraplegia, Hyperekplexia autosomal dominant complex Hypomyelination and LBSL Huntington disease Hypomyelination with Atrophy of the Basal Juvenile neuronal ceroid Ganglia and Cerebellum (H-ABC) lipofuscinosis (Batten disease, Infantile epilepsy syndromes Spielmeyer-Vogt, disease, CLN3) Infantile Spasms Kleine-Levin syndrome Inherited white matter disorders Leukodystrophy Isolated optic neuritis (ION) Locked-in syndrome Lambert-Eaton syndrome Neurofibromatosis Lennox-Gastaut syndrome Multiple sclerosis Leukodystrophies Multiple system atrophy Megalencephalic Leukoencephalopathy with Myasthenia gravis Subcortical Cysts (MLC) Neuroacanthocytosis Metachromatic Leukodystrophy (MLD) Neurodegeneration with brain iron Mitochondrial disorders accumulation (NBIA) Motor neuron disorders Ondine-Hirschsprung disease Movement disorders Opsoclonus-myoclonus syndrome Moyamoya PANDAS Multiple sclerosis associated optic neuritis Perineural cyst (MSON) Post-poliomyelitic syndrome Muscle disorders Proximal spinal muscular atrophy Myasthenia gravis Rett syndrome Myoclonus Ring chromosome 14 Narcolepsy-catalepsy Spastic paraplegia, familial NBIA Stiff-man syndrome Neurodegeneration with brain iron Syringomyelia accumulation Tourette syndrome Neurodegenerative disorders (early onset Transmissible spongiform Parkinson disease and rare dementias) encephalopathies
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Neurometabolic disease related to movement Tremor hereditary essential disorders Tuberous sclerosis Neuromyelitis optica optic neuritis (NMO-ON, undiagnosed neurological AQP4) West syndrome Neuro-ophthalmological disorders Neurosarcoidosis Niemann Pick C Opsoclonus-myoclonus syndrome Optic neuropathies Paroxysmal dyskinesias- polyradiculitis Rare cerebrovascular disorders Rare Neuroimmune disorders Rare neuropathies Relapsing isolated optic neuritis (RION) Spectrum (MOG) Spinal Cord Vascular malformation Stiff-person syndrome Subarachnoid haemorrhage (SAH) Tuberose sclerosis Vanishing White Matter (VWM) Vein of Galen malformation Venous malformation (Cavernomas/DVA) West syndrome Rare Anterior Cutaneous Nerve Entrapment Amyotrophic lateral sclerosis Neuromuscular syndrome Becker MD Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease Arthrogryposis (generic term) Charcot-Marie-Tooth Chronic inflammatory Congenital myopathies demyelinating polyneuropathy Congenital myasthenia Duchenne Muscular Dystrophy Congenital hydrocephalus Myotubular myopathy Dandy-Walker Neuromuscular disease Distal myopathies Friedreich-ataxia Hereditary myopathies Immune-mediated conditions such as myasthenia gravis Inflammatory neuropathies (e.g. CIDP) Inherited muscle disease; - e.g. Duchenne Muscular Dystrophy, Other LGMD, Congenital Muscular Dystrophies, Congenital Myopathies, Congenital Myasthenic Syndromes, Myotonia Congenita and other myotonias and paramyotonias. Lissencephaly Mitochondrial muscle diseases such as Leigh, Alpers, Kearns-Sayre, MELAS, and MERRF syndromes Myofibrillar myopathies
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Neural tube defects (encephalocele, spina bifida) Paediatric and adult neuromuscular disorders Peripheral neuropathies Rimmed vacuolar myopathies Spinal Muscular Atrophies Transthyretin Familial Polyneuropathy Tendinopathy Rare Pulmonary ARDS Alpha-1 antitrypsin and alpha-1- Chronic thromboembolic pulmonary antichymotrypsin deficiencies hypertension Cystic fibrosis Congenital Cystic Adenomatoid malformations Gorham-Stout disease Cystic fibrosis Lymphangioleiomyomatosis Idiopathic Pulmonary Fibrosis Pulmonary arterial hypertension Lymphangioleiomyomatosis Pulmonary fibrosis, idiopathic Interstitial Lung diseases Sarcoidosis Langerhans Histiocytosis Paediatric Pulmonary Hypertension Primary ciliary dyskinesia Pulmonary alveolar proteinosis Pulmonary Arterial Hypertension Pulmonary Metastases Pulmonary Thrombo Endarterectomy (PTE) surgery Sarcoidosis Severe Acute Respiratory Failure in Adults (Respiratory ECMO) Rare Renal Alport Syndrome Cystinosis Atypical haemolytic uremic syndrome Nephrotic syndrome congenital and Chronic kidney disease and renal replacement infant form therapy in children Nephrotic syndrome, idiopathic, Ciliopathies steroid-resistant, familial Cystinosis Polycystic kidney disease Dens Deposit disease Renal disease, genetic Hereditary kidney diseases as congenital nephrotic syndrome, nephronophthisis, cystinosis, Oxalosis Inherited glomerulopathies (podocytopathies, Alport syndrome, MPGN); Fabry, Tuberous Sclerosis, FSGS, ARPKD, OFD, UMOD, MUC1, HNF1b, REN, HANAC. Inherited Glomerulopathies Inherited tubulopathies Meckel-Gruber syndrome Metabolic diseases affecting the kidney (hyperoxaluria, cystinosis, mitochondriopathies). Multicystic renal dysplasia Nephronophthisis and other inherited and sporadic forms of kidney dysplasia
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Nephrotic Syndrome Oxalosis Polycystic kidney Disease Renal malformations Renovascular hypertension in children Syndromic and non-syndromic kidney malformations, including autosomal recessive and dominant polycystic kidney disease (ARPKD; ADPKD), Tuberous sclerosis complex Tubular diseases Tubulopathies Rare Skin Anhidrotic Ectodermal Dysplasia with Cutis laxa Immunodeficiency Cutis marmorata telangiectatica Aplasia cutis congenital congenital ARCI Ectodermal dysplasia syndrome Atypical Fibroxanthoma EEC syndrome Autoimmune Skin diseases: lupus, scleroderma Epidermolysis bullosa Auto inflammatory skin disease Giant pigmented hairy nevus Basal Cell Nevus syndrome Ichthyosis Birt-Hogg-Dubé syndrome Incontinentia pigmenti Bullous autoimmune diseases Oculocutaneous albinism Bullous dermatoses Papulosis, malignant atrophic Collagen vascular disorders Partington disease Connective tissue disorders Pemphigus vulgaris Cutaneous diseases related to DNA Repair Pemphigus, benign chronic familial disorders Porphyria Cutaneous localized overgrowth syndromes Pseudoxanthoma elasticum Cutaneous Lymphoma Xeroderma pigmentosum Cutaneous Mosaic disorders Cutaneous Vascular anomalies Cutis Laxa Cutis Marmorata Telangiectasia Dermatitis Herpetiformis Dermatofibrosarcoma protuberans Ectodermal Dysplasias Ehlers-Danlos syndromes Epidermolysis bullosa (adult and paediatric) Genodermatoses: Netherton Syndrome, Darier Disease, Gorlin Syndrome, CEB. Hemangioma vascular formations Hereditary and Acquired Angioedema Hereditary tumour syndromes Histaminergic and recurrent idiopathic Angioedema Ichthyosis Incontinentia pigmenti Inflammatory and Granulomatous Dermatoses KLICK
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Keratinizing Disorders: Mb Darier, Connexin disorders, Peeling Skin disorders. Linear Morphea Mal de Meleda Marie-Unna hypotrichosis Mastocytosis Mendelian Disorders of Cornification (MEDOC) Mendelian Skin and Nail diseases Merkel Cell Carcinoma Monilethrix Monogenic connective tissue disorders Morbus Darier Morbus Hailey-Hailey Neurocutaneous disorders: NF1, NF2, Schwannomatosis, Tuberous sclerosis complex. Neurofibromatosis Nevus Andreu nevoid conditions Nevi & Nevoid Skin conditions Non-Histaminergic Angioedema Pachyonychia Congenita Palmoplantar keratoderma PIK3CA related disorders and interrelated pathways Pigmentary and Vascular Keratodermas Phacomatoses Porphyria vascular formations Premature skin ageing Pseudoxanthoma elasticum Rare skin tumours Sebaceous Gland Carcinoma Skin Fragility disorders Toxic epidermal necrolysis Tuberous Sclerosis Complex Valvular malformations Vascular tumours: Kaposiform hemangioendothelioma and Tufted Angioma. Palmoplantar keratodermas (PPKs) Rare Urogenital Bladder exstrophy Anorectal malformation Cloacal exstrophy Bladder exstrophy Complicated and complex pelvic floor Epispadias disorders (including POP and male and female Interstitial cystitis incontinence) Cystinuria Failed secondary urethral surgery Female strictures Functional urology requiring highly specialised surgery Indeterminate sex Lynch syndrome
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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping
Mesh repairs Non-syndromic urogenital tract malformation of male and female e.g. in spina bifida Oxaluria Penile cancer Polycystic disease Post pelvic fracture surgery Posterior urethral valves Rare congenital urogenital anomalies, including anorectal malformations and the ARM network Rare Urogenital tumours Recto urinary fistulae Renal, ureteral and bladder amyloidosis Retroperitoneal Fibrosis Retroperitoneal Sarcomas Severe types of Hypospadias Sex disorder developments Testicular cancer Ureterolysis Urethral diverticula in women Urethroplasty Vesicovaginal fistulae Von Hippel Lindau disease
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