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DDOST-CDG
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Immunodeficiency by defective expression of HLA class 2
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
CLN3 disease
Intermittent hydrarthrosis
TRAPS syndrome
17q11 microdeletion syndrome
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis
Estrogen resistance syndrome
Fibronectin glomerulopathy
Herpetic encephalitis
STT3B-CDG
Hutchinson-Gilford progeria syndrome
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type B lipodystrophy
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked non-syndromic intellectual deficit
Cardiomyopathy - hypotonia - lactic acidosis
SSR4-CDG
Synonym(s):
- CDG syndrome type Ir
- CDG-Ir
- CDG1R
- Carbohydrate deficient glycoprotein syndrome type Ir
- Congenital disorder of glycosylation type 1r
- Congenital disorder of glycosylation type Ir
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DDOST P39656602202
No signs/symptoms info available.