Pseudohypoparathyroidism, type ic

Preferred Label : Pseudohypoparathyroidism, type ic;

Symbol : PHP1C;

CISMeF acronym : PHP1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Php ic;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the G-protein, alpha-stimulating 1 gene (GNAS1, 139320.0035);

Laboratory abnormalities : Hypocalcemia; Hyperphosphatemia; Low urinary cyclic AMP response to PTH administration; Elevated serum parathyroid hormone (PTH) level; Normal erythrocyte Gs activity;

Prefixed ID : #612462;

Details

Origin ID

612462;

UMLS CUI

C2932716;

Automatic exact mappings (from CISMeF team)
- pseudohypoparathyroidism [MeSH Descriptor]
Currated CISMeF NLP mapping
- Pseudohypoparathyroidism Type 1C [MeSH concept]
- Pseudohypoparathyroidism type 1C [ORDO Disease]
- Pseudohypoparathyroidism type 1C (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism 1C [Disease (Nov.)]
- pseudohypoparathyroidism type 1C [MeSH Supplementary Concept]
DO Cross reference
- pseudohypoparathyroidism [DO Concept]
Genes related to phenotype
- Gnas complex locus [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Brachydactyly [HPO term]
- Cataract [HPO term]
- Choroid plexus calcification [HPO term]
- Cognitive impairment [HPO term]
- Delayed eruption of teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Enamel hypoplasia [HPO term]
- Full cheeks [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemic tetany [HPO term]
- Hypogonadism [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Low nasal bridge [HPO term]
- Low urinary cyclic AMP response to PTH administration [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Osteoporosis [HPO term]
- Pseudohypoparathyroidism [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Albright hereditary osteodystrophy [ORDO Disease]
- Pseudohypoparathyroidism type 1C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoparathyroidism Type 1C [MeSH concept]
- Pseudohypoparathyroidism type 1C [ORDO Disease]
- Pseudohypoparathyroidism type 1C (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism 1C [Disease (Nov.)]
- pseudohypoparathyroidism type 1C [MeSH Supplementary Concept]

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