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Psykisk utviklingshemming Genpanel, versjon v01 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC Kolonnen >x10 viser andel av genet som vi forventer blir lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering Gen Transkript >10x Fenotype AAAS NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AASS NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCC9 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 NM_000033.3 76% Adrenoleukodystrophy OMIM ABCD4 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 NM_014049.4 100% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL NM_000018.3 100% VLCAD deficiency OMIM ACAT1 NM_000019.3 100% Alpha-methylacetoacetic aciduria OMIM ACO2 NM_001098.2 97% Infantile cerebellar-retinal degeneration OMIM ACOX1 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM ACSL4 NM_004458.2 99% Mental retardation, X-linked 63 OMIM ACTA2 NM_001613.2 100% Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM Gen Transkript >10x Fenotype ACTB NM_001101.3 100% ?Dystonia, juvenile-onset OMIM Baraitser-Winter syndrome 1 OMIM ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM ACVR1 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM ACVR2B NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM ACY1 NM_000666.2 100% Aminoacylase 1 deficiency OMIM ADAR NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria OMIM ADCK3 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM ADK NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM ADNP NM_015339.3 100% Helsmoortel-van der Aa syndrome OMIM ADRA2B NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM ADSL NM_000026.2 100% Adenylosuccinase deficiency OMIM AFF2 NM_002025.3 100% Mental retardation, X-linked, FRAXE type OMIM AFG3L2 NM_006796.2 98% Ataxia, spastic, 5, autosomal recessive OMIM Spinocerebellar ataxia 28 OMIM AGA NM_000027.3 100% Aspartylglucosaminuria OMIM AGK NM_018238.3 100% Sengers syndrome OMIM AGL NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM AGXT NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM AHDC1 NM_001029882.3 99% Xia-Gibbs syndrome OMIM Gen Transkript >10x Fenotype AIFM1 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 OMIM AIMP1 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM AKT1 NM_005163.2 100% Cowden syndrome 6 OMIM AKT3 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM ALDH18A1 NM_002860.3 100% Cutis laxa, autosomal dominant 3 OMIM Cutis laxa, autosomal recessive, type IIIA OMIM Spastic paraplegia 9A, autosomal dominant OMIM Spastic paraplegia 9B, autosomal recessive OMIM ALDH3A2 NM_000382.2 100% Sjogren-Larsson syndrome OMIM ALDH4A1 NM_003748.3 100% Hyperprolinemia, type II OMIM ALDH5A1 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM ALDH7A1 NM_001182.4 99% Epilepsy, pyridoxine-dependent OMIM ALDOA NM_000034.3 100% Glycogen storage disease XII OMIM ALDOB NM_000035.3 100% Fructose intolerance OMIM ALG1 NM_019109.4 52% Congenital disorder of glycosylation, type Ik OMIM ALG11 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM ALG12 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM ALG13 NM_001099922.2 99% Epileptic encephalopathy, early infantile, 36 OMIM ALG2 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM ALG6 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM Gen Transkript >10x Fenotype ALG8 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM ALG9 NM_001077691.1 100% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM ALMS1 NM_015120.4 100% Alstrom syndrome OMIM ALPL NM_000478.4 100% Hypophosphatasia, adult OMIM Hypophosphatasia, childhood OMIM Hypophosphatasia, infantile OMIM Odontohypophosphatasia OMIM ALX1 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM ALX3 NM_006492.2 94% Frontonasal dysplasia 1 OMIM ALX4 NM_021926.3 100% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM AMER1 NM_152424.3 100% Osteopathia striata with cranial sclerosis OMIM AMPD2 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM AMT NM_000481.3 100% Glycine encephalopathy OMIM ANKRD11 NM_013275.5 98% KBG syndrome OMIM AP1S2 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM AP4B1 NM_006594.3 100% Spastic paraplegia 47, autosomal recessive OMIM AP4E1 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM AP4M1 NM_004722.3 99% Spastic paraplegia 50, autosomal recessive OMIM AP4S1 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM APOPT1 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM APTX NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM Gen Transkript >10x Fenotype ARFGEF2 NM_006420.2 100% Periventricular heterotopia with microcephaly OMIM ARG1 NM_000045.3 100% Argininemia OMIM ARHGAP31 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM ARHGEF6 NM_004840.2 100% Mental retardation, X-linked 46 OMIM ARHGEF9 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM ARID1A NM_006015.4 99% Coffin-Siris syndrome 2 OMIM ARID1B NM_020732.3 99% Coffin-Siris syndrome 1 OMIM ARL6 NM_177976.2 100% Bardet-Biedl syndrome 3 OMIM {Bardet-Biedl syndrome 1, modifier of} OMIM ARSA NM_000487.5 100% Metachromatic leukodystrophy OMIM ARSE NM_000047.2 99% Chondrodysplasia punctata, X-linked recessive OMIM ARX NM_139058.2 89% Epileptic encephalopathy, early infantile, 1 OMIM Hydranencephaly with abnormal genitalia OMIM Lissencephaly, X-linked 2 OMIM Mental retardation, X-linked 29 and others OMIM Partington syndrome OMIM Proud syndrome OMIM ASAH1 NM_177924.3 100% Farber lipogranulomatosis OMIM Spinal muscular atrophy with progressive myoclonic epilepsy OMIM ASL NM_000048.3 100% Argininosuccinic aciduria OMIM ASPA NM_000049.2 100% Canavan disease OMIM ASPM NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM ASS1 NM_000050.4 98% Citrullinemia OMIM ASXL1 NM_015338.5 100% Bohring-Opitz syndrome OMIM Gen Transkript >10x Fenotype ASXL3 NM_030632.1 100% Bainbridge-Ropers syndrome OMIM ATIC NM_004044.6 100% AICA-ribosiduria due to ATIC deficiency OMIM ATM NM_000051.3 100% Ataxia-telangiectasia OMIM ATP13A2 NM_022089.3 100% ?Ceroid lipofuscinosis, neuronal, 12 OMIM Kufor-Rakeb syndrome OMIM ATP1A3 NM_152296.4 100% Alternating hemiplegia of childhood 2 OMIM CAPOS syndrome OMIM Dystonia-12 OMIM ATP6AP2 NM_005765.2 99% ?Mental retardation, X-linked, syndromic, Hedera type OMIM ?Parkinsonism with spasticity, X-linked OMIM ATP7A NM_000052.6 100% Menkes disease OMIM Occipital horn syndrome OMIM Spinal muscular atrophy, distal, X-linked 3 OMIM ATR NM_001184.3 99% GAPO syndrome OMIM Seckel syndrome 1 OMIM ATRX NM_000489.4 99% Alpha-thalassemia/mental retardation syndrome OMIM Mental retardation-hypotonic facies syndrome, X-linked OMIM AUH NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM AUTS2 NM_015570.3 99% Mental retardation, autosomal dominant 26 OMIM B3GALNT2 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM B4GALT7 NM_007255.2 99% Ehlers-Danlos syndrome with short stature and limb anomalies OMIM BBS1 NM_024649.4 100% Bardet-Biedl syndrome 1 OMIM BBS10 NM_024685.3 100% Bardet-Biedl syndrome 10 OMIM BBS12 NM_152618.2 100% Bardet-Biedl syndrome 12 OMIM BBS2 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM Retinitis pigmentosa 74 OMIM BBS4 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM Gen Transkript >10x Fenotype BBS5 NM_152384.2 100% Bardet-Biedl syndrome 5 OMIM BBS7 NM_176824.2 100% Bardet-Biedl syndrome 7 OMIM BBS9 NM_198428.2 100% Bardet-Biedl syndrome 9 OMIM BCAP31 NM_001139441.1 98% Deafness, dystonia, and cerebral hypomyelination OMIM BCKDHA NM_000709.3 100% Maple syrup urine disease, type Ia OMIM BCKDHB NM_183050.2 99% Maple syrup urine disease, type Ib OMIM BCOR NM_017745.5 99% Microphthalmia, syndromic 2 OMIM BCS1L NM_004328.4 100% Bjornstad syndrome OMIM GRACILE syndrome OMIM Leigh syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM BICD2 NM_001003800.1 100% Spinal muscular atrophy, lower extremity-predominant, 2, AD OMIM BIN1 NM_139343.2 100% Myopathy, centronuclear, autosomal recessive OMIM BLM NM_000057.3 100% Bloom syndrome OMIM BMP4 NM_001202.3 100% Microphthalmia, syndromic 6 OMIM BMPER NM_133468.4 100% Diaphanospondylodysostosis OMIM BOLA3 NM_212552.2 97% Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM BRAF NM_004333.4 99% Cardiofaciocutaneous syndrome OMIM LEOPARD syndrome 3 OMIM Noonan syndrome 7 OMIM BRAT1 NM_152743.3 100% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM BRCA2 NM_000059.3 99% {Glioblastoma 3} OMIM BRIP1 NM_032043.2 100% Fanconi anemia, complementation group J OMIM Gen Transkript >10x Fenotype BRWD3 NM_153252.4 99% Mental retardation, X-linked 93 OMIM BSND NM_057176.2 100% Bartter syndrome, type 4a OMIM Sensorineural deafness
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  • Prevalence and Incidence of Rare Diseases: Bibliographic Data

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    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
  • MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature

    MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature

    J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature.
  • Complex Hereditary Spastic Paraplegia Associated with Episodic

    Complex Hereditary Spastic Paraplegia Associated with Episodic

    Tozawa et al. Human Genome Variation (2021) 8:4 https://doi.org/10.1038/s41439-021-00136-y Human Genome Variation DATA REPORT Open Access Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants Takenori Tozawa1,2,AkiraNishimura3, Tamaki Ueno2,4, Akane Shikata5, Yoshihiro Taura1,TakeshiYoshida 6, Naoko Nakagawa7, Takahito Wada 7, Shinji Kosugi7, Tomoko Uehara8, Toshiki Takenouchi 9, Kenjiro Kosaki8 and Tomohiro Chiyonobu1 Abstract Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness. The ACO2 gene on chromosome 22 encodes the aco- variants in the ACO2 gene presenting as complex her- nitase 2 (ACO2) protein in the mitochondrial matrix; editary spastic paraplegia (HSP) with a new phenotype of ACO2 catalyzes the stereospecific isomerization of citrate episodic visual loss after every febrile infection and pro- to isocitrate in the tricarboxylic acid (TCA) cycle1. gressive optic atrophy. This is the third familial report and ACO2 fi fi 1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; Pathogenic variants were rst reported in eight the rst Asian patient with complex HSP caused by individuals from two Arab families, and they had infantile pathogenic ACO2 variants. cerebellar-retinal degeneration (ICRD, OMIM#614559)2. The proband was born to nonconsanguineous healthy Subsequently, ~20 cases of pathogenic homozygous or parents at 38 weeks gestational age after unremarkable compound heterozygous ACO2 variants have been delivery.