Proprotein convertase 1/3 deficiency

Preferred Label : Proprotein convertase 1/3 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Obesity and endocrinopathy due to impaired processing of prohormones;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proprotein convertase 1 gene (PC1, 162150.0001);

Laboratory abnormalities : Increased plasma proinsulin; Decreased or normal plasma insulin; Increased plasma progastrin; Increased plasma proglucagon;

Prefixed ID : #600955;

Details

Origin ID

600955;

UMLS CUI

C1833053;

Automatic exact mappings (from CISMeF team)
- proprotein convertase 1/3 deficiency [DO Concept]
Currated CISMeF NLP mapping
- Obesity due to prohormone convertase I deficiency [ORDO Disease]
- Obesity due to prohormone convertase-1 deficiency [ICD-11 More detail]
- proprotein convertase 1 3 deficiency [MeSH Supplementary Concept]
- proprotein convertase 1 3 deficiency [MeSH concept]
DO Cross reference
- proprotein convertase 1/3 deficiency [DO Concept]
Genes related to phenotype
- Proprotein convertase, subtilisin/kexin-type, 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating cortisol level [HPO term]
- Diarrhea [HPO term]
- Hypocortisolemia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Isolated cases [HPO term]
- Malabsorption [HPO term]
- Obesity [HPO term]
- Primary amenorrhea [HPO term]
- Reactive hypoglycemia [HPO term]
- Sporadic [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Obesity due to prohormone convertase I deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Obesity due to prohormone convertase I deficiency [ORDO Disease]
- proprotein convertase 1 3 deficiency [MeSH Supplementary Concept]
- proprotein convertase 1 3 deficiency [MeSH concept]
- proprotein convertase 1/3 deficiency [DO Concept]
Validated automatic mappings to BTNT
- Obesity due to prohormone convertase I deficiency (disorder) [SNOMED CT concept]

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