Hypoparathyroidism, familial isolated, 1

Preferred Label : Hypoparathyroidism, familial isolated, 1;

Symbol : FIH1;

CISMeF acronym : FIH; FIH1;

Type : Phenotype, molecular basis known;

Description : Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the parathyroid hormone gene (PTH, 168450.0001);

Laboratory abnormalities : Hypocalcemia; No circulating antibodies to parathyroid hormone; Undetectable or subnormal plasma immunoreactive PTH; Hyperphosphatemia;

Prefixed ID : #146200;

Details

Origin ID

146200;

UMLS CUI

C5241444;

Automatic exact mappings (from CISMeF team)
- Hypoparathyroidism - autosomal dominant (disorder) [SNOMED CT concept]
- hypoparathyroidism, autosomal recessive [MeSH concept]
- hypoparathyroidism, autosomal recessive [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial isolated hypoparathyroidism [ICD-11 More detail]
- Familial isolated hypoparathyroidism [ORDO Disease]
- Familial isolated hypoparathyroidism (disorder) [SNOMED CT concept]
- Hypoparathyroidism familial isolated [MeSH concept]
- familial isolated hypoparathyroidism [Disease (Nov.)]
- familial isolated hypoparathyroidism [DO Concept]
- hypoparathyroidism familial isolated [MeSH Supplementary Concept]
DO Cross reference
- familial isolated hypoparathyroidism [DO Concept]
- hypoparathyroidism [DO Concept]
Genes related to phenotype
- Parathyroid hormone [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebral calcification [HPO term]
- Decreased circulating parathyroid hormone level [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemia [HPO term]
- Hypoparathyroidism [HPO term]
- Intracerebral calcification on CT scan [HPO term]
- Seizure [HPO term]
- Tetany [HPO term]
ORDO concept(s)
- Familial isolated hypoparathyroidism [ORDO Disease]
- Familial isolated hypoparathyroidism due to agenesis of parathyroid gland [ORDO Disease]
- Familial isolated hypoparathyroidism due to impaired PTH secretion [ORDO Disease]
See also inter- (CISMeF)
- Autosomal Dominant Hypoparathyroidism [NCIt concept]
- Autosomal Recessive Hypoparathyroidism [NCIt concept]
- Autosomal dominant hypocalcemia [ORDO Disease]
- Autosomal dominant hypocalcemia (disorder) [SNOMED CT concept]
- Familial isolated hypoparathyroidism due to impaired PTH secretion [ORDO Disease]
- hypercalciuric hypocalcemia, familial [MeSH Supplementary Concept]
- hypoxia inducible factor 1 subunit alpha inhibitor [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial isolated hypoparathyroidism [ORDO Disease]
- Familial isolated hypoparathyroidism (disorder) [SNOMED CT concept]
- Familial isolated hypoparathyroidism due to impaired PTH secretion [ORDO Disease]
- Hypoparathyroidism familial isolated [MeSH concept]
- familial isolated hypoparathyroidism [Disease (Nov.)]
- hypoparathyroidism familial isolated [MeSH Supplementary Concept]

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