Pseudohypoparathyroidism, Type IA

Alternative Names

  • PHP1A
  • PHP 1A
  • Albright Hereditary Osteodystrophy with Multiple Hormone Resistance

Associated Genes

GNAS Complex Locus
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

103580

Mode of Inheritance

Autosomal dominant

Gene Map Locus

20q13.32

Description

Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH). In addition to PTH resistance, PHP IA is characterized by resistance to other hormones, including thyroid-stimulating hormone and gonadotropins. PHP IA is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. In contrast, pseudopseudohypoparathyroidism (PPHP) is characterized by the physical findings of AHO but without hormone resistance. PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect. This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
103580.1Saudi ArabiaMale Metopic synostosis; Hydronephrosis; Gray...NM_080425.4:c.2405T>CHeterozygousAutosomal, DominantMaddirevula et al. 2018 Mutation is de novo ...
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