Hypoparathyroidism, autosomal recessive

MedGen UID:: 327077
•Concept ID:: C1840334
•: Disease or Syndrome

Synonym:

Hypoparathyroidism, Autosomal Recessive

Definition

Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHypoparathyroidism, autosomal recessive

Phenotypic abnormality
- Abnormality of the endocrine system
  - Abnormality of the parathyroid gland
    - Abnormality of the parathyroid physiology
      - Hypoparathyroidism
        Hypoparathyroidism, autosomal recessive

Recent clinical studies

Diagnosis

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA
J Clin Endocrinol Metab 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836. PMID: 28323927 Free PMC Article

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N
Am J Med Genet A 2014 May;164A(5):1180-7. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36434. PMID: 24664533

See all (2)

MedGen

National Center for Biotechnology Information

Send to:

Hypoparathyroidism, autosomal recessive

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity