Pseudohypoparathyroidism, type ia

Preferred Label : Pseudohypoparathyroidism, type ia;

Symbol : PHP1A;

CISMeF acronym : PHP1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Php ia; Albright hereditary osteodystrophy with multiple hormone resistance;

Description : Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH; 168450). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, 188540) 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 (Mantovani and Spada, 2006). In contrast, pseudopseudohypoparathyroidism (PPHP; 612463) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the G-protein, alpha-stimulating 1 gene (GNAS1, 139320.0001);

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

Prefixed ID : #103580;

Details

Origin ID

103580;

UMLS CUI

C3494506;

Automatic exact mappings (from CISMeF team)
- GNAS wt Allele [NCIt concept]
- pseudohypoparathyroidism [MeSH Descriptor]
Broader ORDO disease(s)
- Albright hereditary osteodystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Albright Hereditary Osteodystrophy with Multiple Hormone Resistance [NCIt concept]
- Pseudohypoparathyroidism type 1A [ICD-11 More detail]
- Pseudohypoparathyroidism type 1A [ORDO Disease]
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism type i a [SNOMED Notion]
- pseudohypoparathyroidism, type ia [MeSH concept]
DO Cross reference
- Albright's hereditary osteodystrophy [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]
- Hypoplasia of the toes [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 finger [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Thickened calvaria [HPO term]
ORDO concept(s)
- Albright hereditary osteodystrophy [ORDO Disease]
- Pseudohypoparathyroidism type 1A [ORDO Disease]
See also inter- (CISMeF)
- Albright Hereditary Osteodystrophy without Multiple Hormone Resistance [NCIt concept]
- pseudopseudohypoparathyroidism [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albright Hereditary Osteodystrophy with Multiple Hormone Resistance [NCIt concept]
- Albright's Hereditary Osteodystrophy [NCIt concept]
- Pseudohypoparathyroidism type 1A [ORDO Disease]
- Pseudohypoparathyroidism type 1A [ICD-11 More detail]
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism type i a [SNOMED Notion]
- pseudohypoparathyroidism, type ia [MeSH concept]
Validated automatic mappings to NTBT
- pseudohypoparathyroidism [Disease (Nov.)]

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