PHP1C
MCID: PSD117
MIFTS: 37
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Pseudohypoparathyroidism, Type Ic (PHP1C)
Categories:
Blood diseases, Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Pseudohypoparathyroidism, Type Ic:
Characteristics:Orphanet epidemiological data:58
pseudohypoparathyroidism type 1c
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
caused by inheritance of the mutation on the maternal allele (imprinting) see also pseudohypoparathyroidism type ia HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Eye diseases Nephrological diseases Bone diseases Skin diseases Endocrine diseases Blood diseases
ICD10:
33
Orphanet: 58
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GARD :
20
Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition 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. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.
MalaCards based summary : Pseudohypoparathyroidism, Type Ic, also known as pseudohypoparathyroidism type 1c, is related to pseudohypoparathyroidism and pseudohypoparathyroidism, type ia, and has symptoms including seizures An important gene associated with Pseudohypoparathyroidism, Type Ic is GNAS (GNAS Complex Locus), and among its related pathways/superpathways is G alpha (s) signalling events. Affiliated tissues include eye, bone and thyroid, and related phenotypes are pseudohypoparathyroidism and hyperphosphatemia OMIM® : 57 Pseudohypoparathyroidism type Ic (PHP1C) is characterized by resistance to parathyroid hormone (PTH; 168450) as well as to other hormones. It is associated with a constellation of physical 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. Laboratory studies in patients with PHP Ic show a decreased cellular cyclic AMP (cAMP) response to infused PTH, but no defect in activity of the erythrocyte Gs protein (Mantovani and Spada, 2006). (612462) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Pseudohypoparathyroidism 1C: 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. |
Diseases in the Pseudohypoparathyroidism family:
Diseases related to Pseudohypoparathyroidism, Type Ic via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Pseudohypoparathyroidism, Type Ic:![]() |
Human phenotypes related to Pseudohypoparathyroidism, Type Ic:58 31 (show top 50) (show all 62)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:612462 (Updated 05-Mar-2021)UMLS symptoms related to Pseudohypoparathyroidism, Type Ic:seizures GenomeRNAi Phenotypes related to Pseudohypoparathyroidism, Type Ic according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ic:40
Eye,
Bone,
Thyroid,
Pituitary
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Articles related to Pseudohypoparathyroidism, Type Ic:
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ClinVar genetic disease variations for Pseudohypoparathyroidism, Type Ic:6
UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoparathyroidism, Type Ic:73
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Search
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for disease gene expression data for Pseudohypoparathyroidism, Type Ic.
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Biological processes related to Pseudohypoparathyroidism, Type Ic according to GeneCards Suite gene sharing:
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