PMM2-CDG

Definicija

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

Pretraga

Pun naziv

PMM2-CDG

Kratki naziv

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Sinonimi

CDG1APhosphomannomutase 2 deficiencyCDG-IaCDG syndrome type IaCongenital disorder of glycosylation type 1aCongenital disorder of glycosylation type IaCarbohydrate deficient glycoprotein syndrome type Ia

Orpha broj

79318

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

Nepoznato

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

E77.8

OMIM

212065

UMLS

C0349653

GARD

9826

MEDDRA

NULL
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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