Pseudopseudohypoparathyroidism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AHO - PPHP ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE PPHP Albright hereditary osteodystrophy - PPHP |
| Number of Symptoms | 26 |
| OrphanetNr: | 79445 |
| OMIM Id: |
612463
|
| ICD-10: |
E20.1 |
| UMLs: |
C0033835 |
| MeSH: |
D011556 |
| MedDRA: |
|
| Snomed: |
237659007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Albright hereditary osteodystrophy
-Rare bone disease -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare eye disease -Rare genetic disease -Rare renal disease -Rare skin disease |
Symptom Information:
|
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000684) | Delayed eruption of teeth | 117 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000293) | Full cheeks | 85 / 7739 | ||||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | 230 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | rare [HPO:skoehler] | 1089 / 7739 | |||
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(HPO:0000852) | Pseudohypoparathyroidism | 6 / 7739 | ||||
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(HPO:0005720) | Shortening of all metacarpals | 12 / 7739 | ||||
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(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0010743) | Short metatarsal | 56 / 7739 | ||||
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(HPO:0004686) | Short third metatarsal | 9 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
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(OMIM) | No hormone resistance | 1 / 7739 | ||||
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(OMIM) | Reduced erythrocyte Gs activity | 2 / 7739 | ||||
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(OMIM) | Normal urinary cyclic AMP response to PTH administration | 1 / 7739 | ||||
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(OMIM) | Subcutaneous ossifications | 3 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Albright et al. (1952) described a 29-year-old woman with physical features similar to those reported by Albright et al. (1942) as Albright hereditary osteodystrophy, but there were no serum calcium abnormalities suggestive of PTH resistance. Albright et al. ... |
| Molecular genetics OMIM |
In a mother with PPHP and her 4 daughters with PHP Ia (103580) (Kinard et al., 1979), Weinstein et al. (1990) identified a heterozygous mutation in the GNAS gene (139320.0002). A son of 1 of the affected daughters ... |