Pseudopseudohypoparathyroidism

Preferred Label : Pseudopseudohypoparathyroidism;

Symbol : PPHP;

CISMeF acronym : PPHP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Albright hereditary osteodystrophy without multiple hormone resistance;

Description : Patients with pseudopseudohypoparathyroidism do not show resistance to parathyroid hormone (PTH; 168450) or other hormones, as is the case with PHP1A (103580), but do manifest the 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 (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide gene (GNAS, 139320.0002);

Laboratory abnormalities : Reduced erythrocyte Gs activity; Normal urinary cyclic AMP response to PTH administration;

Prefixed ID : #612463;

Details

Origin ID

612463;

UMLS CUI

C0033835;

Automatic exact mappings (from CISMeF team)
- 5-phenylpent-4-enyl-1-hydroperoxide [MeSH concept]
- 5-phenylpent-4-enyl-1-hydroperoxide [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Albright Hereditary Osteodystrophy without Multiple Hormone Resistance [NCIt concept]
- Hypercalcemia [ICD-9 code]
- Pseudohypoparathyroidism (disorder) [SNOMED CT concept]
- Pseudopseudohypoparathyroidism [ICD-11 More detail]
- Pseudopseudohypoparathyroidism [ORDO Disease]
- Pseudopseudohypoparathyroidism (disorder) [SNOMED CT concept]
- normocalcemic pseudohypoparathyroidism [SNOMED Notion]
- pseudohypoparathyroidism [MeSH Descriptor]
- pseudopseudohypoparathyroidism [DO Concept]
- pseudopseudohypoparathyroidism [MeSH Descriptor]
- pseudopseudohypoparathyroidism [MeSH concept]
DO Cross reference
- pseudopseudohypoparathyroidism [DO Concept]
Genes related to phenotype
- Gnas complex locus [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cataract [HPO term]
- Cognitive impairment [HPO term]
- Delayed eruption of teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Enamel hypoplasia [HPO term]
- Full cheeks [HPO term]
- Intellectual disability [HPO term]
- Low nasal bridge [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Osteoporosis [HPO term]
- Pseudohypoparathyroidism [HPO term]
- Round face [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]
- Pseudopseudohypoparathyroidism [ORDO Disease]
See also inter- (CISMeF)
- pseudohypoparathyroidism [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albright Hereditary Osteodystrophy without Multiple Hormone Resistance [NCIt concept]
- Pseudopseudohypoparathyroidism [ORDO Disease]
- Pseudopseudohypoparathyroidism [ICD-11 More detail]
- Pseudopseudohypoparathyroidism [MedDRA LLT]
- Pseudopseudohypoparathyroidism (disorder) [SNOMED CT concept]
- normocalcemic pseudohypoparathyroidism [SNOMED Notion]
- pseudopseudohypoparathyroidism [MeSH Descriptor]
- pseudopseudohypoparathyroidism [MeSH concept]
- pseudopseudohypoparathyroidism [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients