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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617213
http://purl.bioontology.org/ontology/OMIM/617213
|
|---|---|
| Preferred Name | SEDOHEPTULOKINASE DEFICIENCY |
| Synonyms |
SHPKD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SHPKD
|
|---|---|
| prefLabel | SEDOHEPTULOKINASE DEFICIENCY
|
| Gene Symbol |
CARKL
SHPK
|
| Scope Statement | Two unrelated patients, both born of consanguineous parents, have been reported (last curated November 2016) [MISCELLANEOUS]
The patients had different multisystem manifestations, including delayed psychomotor development and dysmorphic features, but the relationship of these features to the SHPK deficiency is unclear [MISCELLANEOUS]
Caused by mutation in the sedoheptulokinase gene (SHPK, 605060.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 17p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617213
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1291373
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |