Pseudopseudohypoparathyroidism
Synonyms: AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudopseudohypoparathyroidism | AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome |
| fr | Pseudopseudohypoparathyroïdie | OHA associée à PPHP · Ostéodystrophie héréditaire d'Albright associée à PPHP |
| de | Pseudopseudohypoparathyreoidismus | AHO-PPHP-Syndrom · Albright'sche hereditäre Osteodystrophie-PPHP-Syndrom |
| es | Pseudopseudohipoparatiroidismo | Síndrome AHO-PPHP · Síndrome de osteodistrofia hereditaria de Albright-PPHP |
| it | Pseudopseudoipoparatiroidismo | Sindrome AHO-PPHP · Sindrome osteodistrofia ereditaria di Albright - PPHP |
| nl | Pseudopseudohypoparathyreoïdie | AHO-PPHP-syndroom · Erfelijke osteodystrofie van Albright - PPHP-syndroom |
| pt | Pseudo-pseudo-hipoparatiroidismo | Síndrome AHO-PPHP · Síndrome de osteodistrofia hereditária Albright-PPHP |
| pl | Rzekomo rzekoma niedoczynność przytarczyc | AHO - PPHP |
| cs | Pseudopseudohypoparatyreoidismus | AHO-PPHP syndrom · Albrightova dědičná osteodystrofie - PPHP syndrom |
| uk | Псевдопсевдогіпопаратиреоз | AHO-PPHP синдром · Синдром спадкової остеодистрофії Олбрайта - PPHP синдром |
| zh | 假性假甲状旁腺功能减退 | Albright遗传性骨营养不良- PPHP综合征 |
| tr | Psödopsödohipoparatiroidi | AHO-PPHP sendromu · Albright kalıtsal osteodistrofi-PPHP sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612463 | E | validated | |
| ICD-10 | E20.1 | NTBT | attributed | validated |
| ICD-11 | 5A50.1 | NTBT | index | validated |
| MONDO | 0012912 | E | validated | |
| MeSH | D011556 | E | validated | |
| UMLS | C0033835 | E | validated | |
| GARD | 7860 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:97593Pseudohypoparathyroidism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2021-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0011986 | Ectopic ossification | |
| HP:0000311 | Round face | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0009237 | Short 5th finger | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001513 | Obesity | |
| HP:0025027 | Osteoma cutis | |
| HP:0004180 | Short distal phalanx of the 3rd finger | |
| HP:0009650 | Short distal phalanx of the thumb | |
| Excluded (0%) | ||
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
Annotation source: 27995443[PMID]_25484027[PMID]_30809832[PMID]_24651309[PMID]_29072892[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79445
- This record as JSON: /data/d/79445.json