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Phenotype: Gerodermia Osteodysplasºc

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Phenotype: Gerodermia Osteodysplasºc Phenotype: Gerodermia osteodysplas3c Italian version Gene name: GORAB h#ps://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB Gene locaon: chr1: 1q24.2 Protein locaon: The ene is expressed, at the cellular level, mainly in the nucleus, in the cytoplasm and at the level of the Golgi apparatus. Protein name: RAB6-INTERACTING GOLGIN Accession uniprot: Q5T7V8 h#ps://www.uniprot.org/uniprot/Q5T7V8 Size: 394 aminoacids Molecular weight: 44993 Da Structure: as not yet been idenXfied Descripon and funcon: The gene codes a member of the family of a group of double-spiraling proteins, located in the Golgi unit and in the cytoplasm. The coded protein can play a role in secretory processes and also has interacXons with proteins involved in mitosis. Muta3ons and pathologies: Geroderma osteodysplasXc, also called "Walt Disney nanism", is a rare autosomal recessive disorder affecXng connecXve Xssue; it is characterized by a loose and wrinkled skin and a prematurely aged appearance. Significant bone changes are present, involving advanced osteoporosis that can lead to mulXple fractures, hypoplasia (reduced development) of the jaw and a variable degree of growth deficit. Bones can also present mulXple lines similar to tree growth rings. (a) Lax skin on the abdomen in younger sibling demonstrated by pinching the skin. (b) Note ader the pinch has been released; the skin fold sXll persists showing the lax abdominal skin h#p://www.ijpd.in/arXcle.asp? issn=2319-7250;year=2017;volume=18;issue=2;spage=148;epage=150;aulast=Arif OMIM ACCESSION: h#p://omim.org/entry/231070 Incidence: <1 / 1 000 000 Therapies: Life expectancy is normal and the treatment of osteodysplasXc Geroderma is symptomaXc. However, the limits are not as great as with many similar disorders of cuXs laxa syndrome. in fact only generalized osteoporosis requires constant monitoring and therapy; bisphosphonates were effecXve in cases with serious presence of osteopenia. Naturally, frequently occurring fractures must be treated at any Xme; in the course of life, however, fractures gradually decrease and the bone metabolism normalizes. Eye disorders also need constant monitoring, because corneal clouding and even glaucoma can occur. However, eye symptoms are not always present. The affected person has progeroid cha- racterisXcs. CURIOSITY: The disease is also called Walt Disney's dwarfism because those who are af- fected have some similariXes with the Walt Disney dwarfs. Gerodermia osteodisplas3ca Nome del Gene: GORAB h#ps://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB Localizzazione del gene: chr1: 1q24.2 PEspressione del gene e localizzazione della proteina Il gene è espresso a livello cellulare nel nucleo, nel citplasma e nell’apparato del Golgi . None della proteina: RAB6-INTERACTING GOLGIN Accesso uniprot: Q5T7V8 h#ps://www.uniprot.org/uniprot/Q5T7V8 Lunghezza: 394 aminoacidi Peso molecolare: 44993 dalton Struura 3D: non determinata Descrizione e funzione: la proteina ha un ruolo nei processi di secrezione e interagisce con altre proteine coinvolte nella mitosi. Mutazioni e patologie: Il geroderma osteoplas3co anche chiamato “nanismo di Walt Disney” è una malaa auto- sonica recessiva rara che colpisce il tessuto connevo; le persone affe#e hanno pelle allen- tata e rugosa e un aspe#o prematuramente invecchiato. Sono affe anche da osteoporosi grave che può portare a fra#ure mulXple, ipoplasia (sviluppo rido#o) della mascella e deficit di crescita. Le ossa possono anche presentare più linee simili agli anelli di crescita degli albe- (a) Viene mostrato come sia lassa la pelle sull’addome di una persona giovane e come (b) rimanga alterata dopo il pizzico#o hp://www.ijpd.in/arXcle.asp?issn=2319-7250;year=2017;volume=18;issue=2;spage=148;epage=150;au- last=Arif ACCESSO OMIM: h#p://omim.org/entry/231070 Incidenza: <1 / 1 000 000 Terapia: l’aspe#aXva di vita delle persone affe#e è normale e si curano solo i sintomi. Solo l’osteoporosi richiede controlli conXnui e terapie con bifosfonaX, farmaci in grado di inibi- re il riassorbimento osseo. CURIOSITA’: la patologia viene indicata come nanismo di Walt Disney proprio per cara#e- risXche fisiche che hanno somiglianze con i nani dei cartoni animaX. .
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