ORPHA:79443
Pseudohypoparathyroidism type 1A
Synonyms: AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoparathyroidism type 1A | AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia |
| fr | Pseudohypoparathyroïdie type 1A | OHA associée à PHP Ia · Ostéodystrophie héréditaire d'Albright associée à PHP Ia |
| de | Pseudohypoparathyreoidismus Typ 1A | AHO-PHP-Syndrom Ia · Albright'sche hereditäre Osteodystrophie-PHP-Syndrom Ia |
| es | Pseudohipoparatiroidismo tipo 1A | Síndrome AHO-PHP Ia · Síndrome de osteodistrofia hereditaria de Albright-PPHP Ia |
| it | Pseudoipoparatiroidismo tipo 1A | Sindrome AHO-PHP · Sindrome da osteodistrofia ereditaria di Albright - PHP |
| nl | Pseudohypoparathyreoïdie type 1A | AHO-PHP-syndroom Ia · Erfelijke osteodystrofie van Albright - PHP-syndroom Ia |
| pt | Pseudo-hipoparatiroidismo tipo 1A | Síndrome AHO-PHP Ia · Síndrome de osteodistrofia hereditária Albright-PHP Ia |
| pl | Rzekoma niedoczynność przytarczyc typu 1A | AHO - PHP Ia · Dzidziczna osteodystrofia Albrighta - PHP Ia |
| cs | Pseudohypoparatyreoidismus, typ 1A | AHO-PHP syndrom Ia · Albrightova dědičná osteodystrofie - PHP syndrom Ia |
| uk | Псевдогіпопаратиреоз, тип 1А | AHO-PHP синдром Ia · Спадкова остеодистрофія Олбрайта - PHP синдром Ia |
| zh | 假性甲状旁腺功能减退症1A型 | Albright遗传性骨营养不良- PPHP综合征Ia型 |
| tr | Psödohipoparatiroidi tip 1A | AHO-PHP sendromu Ia · Albright kalıtsal osteodistrofi-PHP sendromu Ia |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103580 | E | validated | |
| ICD-10 | E20.1 | NTBT | attributed | validated |
| ICD-11 | 5A50.1 | NTBT | index | validated |
| MONDO | 0007078 | E | validated | |
| UMLS | C3494506 | E | validated | |
| GARD | 7486 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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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 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
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HPO phenotypes
68 annotations · validated 2017-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000852 | Pseudohypoparathyroidism | |
| Very frequent (99-80%) | ||
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0003456 | Low urinary cyclic AMP response to PTH administration | |
| HP:0008227 | Pituitary resistance to thyroid hormone | |
| HP:0000311 | Round face | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002135 | Basal ganglia calcification | |
| HP:0001156 | Brachydactyly | |
| HP:0010027 | Broad 1st metacarpal | |
| HP:0000518 | Cataract | |
| HP:0006960 | Choroid plexus calcification | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0011986 | Ectopic ossification | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000293 | Full cheeks | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0004704 | Short fifth metatarsal | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0000470 | Short neck | |
| HP:0002684 | Thickened calvaria | |
| Occasional (29-5%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0011869 | Abnormal platelet function | |
| HP:0000739 | Anxiety | |
| HP:0000585 | Band keratopathy | |
| HP:0009642 | Broad distal phalanx of the thumb | |
| HP:0003761 | Calcinosis | |
| HP:0002514 | Cerebral calcification | |
| HP:0100749 | Chest pain | |
| HP:0001266 | Choreoathetosis | |
| HP:0001289 | Confusion | |
| HP:0000509 | Conjunctivitis | |
| HP:0000716 | Depression | |
| HP:0002094 | Dyspnea | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0004438 | Hyperostosis frontalis interna | |
| HP:0000822 | Hypertension | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0001265 | Hyporeflexia | |
| HP:0004305 | Involuntary movements | |
| HP:0000737 | Irritability | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0003394 | Muscle spasm | |
| HP:0003739 | Myoclonic spasms | |
| HP:0000876 | Oligomenorrhea | |
| HP:0025027 | Osteoma cutis | |
| HP:0003401 | Paresthesia | |
| HP:0001657 | Prolonged QT interval | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0010041 | Short 3rd metacarpal | |
| HP:0002176 | Spinal cord compression | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0003528 | Elevated calcitonin | |
| HP:0002199 | Hypocalcemic seizures | |
| HP:0008202 | Reduced circulating prolactin concentration | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 21816789[PMID]_2109828[PMID]_9506735[PMID]_10700702[PMID]_2848415[PMID]_20610593[PMID]_20719837[PMID]_21525160[PMID]_24684469[PMID]_11834431[PMID]_24030943[PMID]_26160136[PMID]_18650515[PMID]_18535072[PMID]_4309802[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79443
- This record as JSON: /data/d/79443.json