SLC39A8-CDG
human disease
Facts
8 properties- Instance of
- rare disease, class of disease[6]
- Subclass of
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability, developmental anomaly of metabolic origin, syndromic neurometabolic disease with non-X-linked intellectual disability, syndrome with a cerebellar malformation as major feature, disorder of protein N-glycosylation, congenital disorder of glycosylation type II, autosomal recessive disease, developmental defect during embryogenesis[7][8][9][10]
- Age of onset
- neonatal onset[13]
- Has phenotype
- Wikidata item, deafness, astigmatism, pathologic nystagmus, craniosynostosis, Ventriculomegaly, Increased CSF lactate, hypsarrhythmia, Sudden episodic apnea, Wikidata item, non-syndromic limb reduction defect, Wikidata item[15][16][17][18][19][20][21][22][23][24][25][26]
- On focus list of Wikimedia project
- WikiProject Medicine[14]
- P14914
- D468699[27]
- Prevalence
- +0.000001[11]
🏷️ Also known as
en Carbohydrate deficient glycoprotein syndrome type IIn
en CDG2N
en CDGIIdn
en CDG IIn
en CDG-IIn
en CDG syndrome type IIn
en Congenital disorder of glycosylation type 2n
en congenital disorder of glycosylation type IIn
en Congenital Disorder of Glycosylation, Type Iin
en SLC39A8-CDG
en SLC39A8 deficiency
🔖 Identifiers · 7
- Disease Ontology ID
- DOID:0070266
- Exact match
- www.orpha.net, purl.obolibrary.org
- Mondo ID
- MONDO_0014746
- OMIM ID
- 616721
- Orphanet ID
- 468699
- UMLS CUI
- C4225234
- UniProt disease ID
- DI-04605
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Summary
SLC39A8-CDG is a rare disease[1]. SLC39A8-CDG is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[2], developmental anomaly of metabolic origin[3], syndromic neurometabolic disease with non-X-linked intellectual disability[4], and syndrome with a cerebellar malformation as major feature[5].