Pseudohypoparathyroidism, Type Ic (PHP1C)

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OMIM 56 612462 MeSH 43 D011547 MESH via Orphanet 44 C548076 ICD10 via Orphanet 33 E20.1 UMLS via Orphanet 72 C2932716

Orphanet 58 ORPHA79444 MedGen 41 C2675910 C2932716 SNOMED-CT via HPO 68 111975006 128306009 128491006 128613002 190869004 193570009 20165001 21061000119107 2109003 228156007 230145002 237836003 246545002 247053007 247578003 263681008 26597004 267023007 267036007 286933003 29857009 313307000 3331000119108 35489007 360348000 360353005 370999003 386806002 405946002 40930008 414915002 414916001 43476002 48130008 48694002 49347007 52073004 55300003 563001 5639000 58424009 58976002 64859006 6595006 67873006 699382004 699421005 72405004 78667006 84757009 91019004 91138005 91175000 95427009 9826008 more UMLS 71 C2932716

NIH Rare Diseases : ⁵² 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 bone, eye and thyroid, and related phenotypes are pseudohypoparathyroidism and hyperphosphatemia

OMIM : ⁵⁶ 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)

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.

Clinical features from OMIM:

612462

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Negative genetic interaction between PTTG1-/- and PTTG1+/+	GR00255-A-4	8.62	GNAS MC4R

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