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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/212070
http://purl.bioontology.org/ontology/OMIM/212070
|
|---|---|
| Preferred Name | CARBOXYPEPTIDASE N DEFICIENCY |
| Synonyms |
CPND
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CPND
|
|---|---|
| prefLabel | CARBOXYPEPTIDASE N DEFICIENCY
|
| Gene Symbol |
SCPN
CPN1
CPN
|
| Scope Statement | Caused by mutation in the carboxypeptidase-N, polypeptide-1 gene (CPN1, 603103.0001) [MOLECULAR BASIS]
Onset in second or third decade (in most patients) [MISCELLANEOUS]
Heterozygous family members also show low CPN1 levels and are symptomatic (generally to a lesser degree) [MISCELLANEOUS]
Episodes may be spontaneous or in response to various triggers (oral contraceptives, stress, fatigue, mechanical pressure, cold temperature) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q24.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 212070
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0398782
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |