Pseudohypoparathyroidism Ia malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases
Aliases & Descriptions for Pseudohypoparathyroidism Ia:
Orphanet epidemiological data:53
pseudohypoparathyroidism type 1a:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Endocrine diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:51 Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ... (103580) more...
MalaCards based summary: Pseudohypoparathyroidism Ia, also known as albright's hereditary osteodystrophy, is related to pseudohypoparathyroidism, type ib and pseudopseudohypoparathyroidism, and has symptoms including round face, gynecomastia and precocious puberty. An important gene associated with Pseudohypoparathyroidism Ia is GNAS (GNAS Complex Locus), and among its related pathways are Amoebiasis and Corticotropin-releasing hormone. Affiliated tissues include h, foot and bone, and related mouse phenotypes are craniofacial and skeleton.
Disease Ontology:11 An osteochondrodysplasia that has material basis in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.
UniProtKB/Swiss-Prot:69 Albright hereditary osteodystrophy: A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. Pseudohypoparathyroidism 1A: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification.
NIH Rare Diseases:47 Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner. Last updated: 1/7/2016
Human phenotypes related to Pseudohypoparathyroidism Ia:63 (show all 54)
UMLS symptoms related to Pseudohypoparathyroidism Ia:seizures
Drugs for Pseudohypoparathyroidism Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:
Search NIH Clinical Center for Pseudohypoparathyroidism Ia
MalaCards organs/tissues related to Pseudohypoparathyroidism Ia:35
Bone, Thyroid, Skin, Ovary, Eye
FMA organs/tissues related to Pseudohypoparathyroidism Ia:17
Articles related to Pseudohypoparathyroidism Ia:
UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoparathyroidism Ia:69 (show all 16)
Clinvar genetic disease variations for Pseudohypoparathyroidism Ia:5 (show all 21)
Search GEO for disease gene expression data for Pseudohypoparathyroidism Ia.
Pathways related to Pseudohypoparathyroidism Ia according to GeneCards Suite gene sharing:
Biological processes related to Pseudohypoparathyroidism Ia according to GeneCards Suite gene sharing:
Molecular functions related to Pseudohypoparathyroidism Ia according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet