MAN1B1-CDG
Definicija
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
Pretraga
Pun naziv
MAN1B1-CDG
Kratki naziv
-
Sinonimi
Congenital disorder of glycosylation type II due to MAN1B1 deficiency_x000D_Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency_x000D_Intellectual disability-truncal obesity syndrome_x000D_Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Orpha broj
397941
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
Autosomal recessive
Period početka bolesti
-
ICD 10
E77.8
OMIM
NULL
UMLS
NULL
GARD
12417
MEDDRA
NULL
Tekstualni opis
-
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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