Hyperparathyroidism 4

Preferred Label : Hyperparathyroidism 4;

Symbol : HRPT4;

CISMeF acronym : HRPT4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glial cells missing transcription factor 2 gene (GCM2, 603716.0005);

Neoplasia : Nonparathyroid neoplasms (ovarian, pancreatic, colorectal, and/or breast cancer in some patients);

Laboratory abnormalities : Normal to high circulating parathyroid hormone; Hypercalcemia;

Prefixed ID : #617343;

Details

Origin ID

617343;

UMLS CUI

C4479229;

Genes related to phenotype
- Glial cells missing transcription factor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypercalcemia [HPO term]
- Nephrolithiasis [HPO term]
- Osteopenia [HPO term]
- Parathyroid carcinoma [HPO term]
- Primary hyperparathyroidism [HPO term]
ORDO concept(s)
- Familial isolated hyperparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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