Pseudohypoparathyroidism type 1C
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoparathyroidism type 1C | |
| fr | Pseudohypoparathyroïdie type 1C | |
| de | Pseudohypoparathyreoidismus Typ 1C | |
| es | Pseudohipoparatiroidismo tipo 1C | |
| it | Pseudoipoparatiroidismo tipo 1C | |
| nl | Pseudohypoparathyreoïdie type 1C | |
| pt | Pseudo-hipoparatiroidismo tipo 1C | |
| pl | Rzekoma niedoczynność przytarczyc typu 1C | |
| cs | Pseudohypoparatyreoidismus, typ 1C | |
| uk | Псевдогіпопаратиреоз, тип 1С | |
| zh | 假性甲状旁腺功能减退症1C型 | |
| tr | Psödohipoparatiroidi tip 1C |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612462 | E | validated | |
| ICD-10 | E20.1 | NTBT | attributed | validated |
| ICD-11 | 5A50.1 | NTBT | index | validated |
| MONDO | 0012911 | E | validated | |
| MeSH | C548076 | E | validated | |
| UMLS | C2932716 | E | validated | |
| GARD | 10681 | 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) 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
55 annotations · validated 2017-03-08| 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 | |
| Frequent (79-30%) | ||
| HP:0002135 | Basal ganglia calcification | |
| HP:0001156 | Brachydactyly | |
| 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:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0000311 | Round face | |
| 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:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0000739 | Anxiety | |
| HP:0009642 | Broad distal phalanx of the thumb | |
| HP:0003761 | Calcinosis | |
| HP:0002514 | Cerebral calcification | |
| HP:0100749 | Chest pain | |
| HP:0001289 | Confusion | |
| HP:0000509 | Conjunctivitis | |
| HP:0000716 | Depression | |
| HP:0002094 | Dyspnea | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0001265 | Hyporeflexia | |
| HP:0011001 | Increased bone mineral density | |
| 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:0010041 | Short 3rd metacarpal | |
| Very rare (<4-1%) | ||
| HP:0002199 | Hypocalcemic seizures | |
| HP:0008202 | Reduced circulating prolactin concentration | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 21488135[PMID]_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]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79444
- This record as JSON: /data/d/79444.json