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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/212140
http://purl.bioontology.org/ontology/OMIM/212140
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|---|---|
| Preferred Name | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY |
| Synonyms |
SCD
CARNITINE UPTAKE DEFECT
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
CUD
CDSP
SYSTEMIC CARNITINE DEFICIENCY
CARNITINE DEFICIENCY, PRIMARY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCD
CARNITINE UPTAKE DEFECT
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
CUD
CDSP
SYSTEMIC CARNITINE DEFICIENCY
CARNITINE DEFICIENCY, PRIMARY
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|---|---|
| prefLabel | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
|
| Gene Symbol |
SCD
SLC22A5
OCTN2
CDSP
|
| Scope Statement | Onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness [MISCELLANEOUS]
Carnitine supplementation can prevent further episodes and declines in cardiac function [MISCELLANEOUS]
Two main presentations [MISCELLANEOUS]
Caused by mutation in the solute carrier family 22 (organic cation transporter), member 5 gene (SLC22A5, 603377.0001). [MOLECULAR BASIS]
Onset in infancy of acute hypoglycemic episodes [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 5q31.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 212140
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0342788
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |