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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301110
http://purl.bioontology.org/ontology/OMIM/301110
|
|---|---|
| Preferred Name | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE |
| Synonyms |
AHUS8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | AHUS8
|
|---|---|
| prefLabel | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
|
| Gene Symbol |
TNPS
C1GALT1C1
COSMC
AHUS8
C1GALT2
|
| Scope Statement | Two unrelated families have been reported (last curated July 2023) [MISCELLANEOUS]
Female carriers may be mildly affected [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the C1GALT1-specific chaperone 1 gene (C1GALT1C1, 300611.0006) [MOLECULAR BASIS]
Favorable response to treatment with complement inhibitors [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301110
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5829585
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |