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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/608104
http://purl.bioontology.org/ontology/OMIM/608104
|
|---|---|
| Preferred Name | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih |
| Synonyms |
CDG Ih
CDG1H
CDGIh
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CDG Ih
CDG1H
CDGIh
|
|---|---|
| prefLabel | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
|
| Gene Symbol |
CDG1H
PCLD3
ALG8
|
| notation | 608104
|
| Scope Statement | Caused by mutation in the homolog of the S. cerevisiae ALG8 gene (ALG8, 608103.0001) [MOLECULAR BASIS]
Patient A had a mild disease course with survival and no neurologic involvement at age 3 years [MISCELLANEOUS]
Onset in early infancy [MISCELLANEOUS]
Variable phenotype and severity [MISCELLANEOUS]
Death may occur in infancy [MISCELLANEOUS]
Four patients, including 2 sibs, have been reported (last curated January 2018) [MISCELLANEOUS]
Hepato/intestinal features are the most severe abnormalities [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 11pter-p15.5
|
| tui | T047
|
| cui | C2931002
|
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