Pseudohypoparathyroidism type 1B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoparathyroidism type 1B | |
| fr | Pseudohypoparathyroïdie type 1B | |
| de | Pseudohypoparathyreoidismus Typ 1B | |
| es | Pseudohipoparatiroidismo tipo 1B | |
| it | Pseudoipoparatiroidismo tipo 1B | |
| nl | Pseudohypoparathyreoïdie type 1B | |
| pt | Pseudohipoparatiroidismo tipo 1B | |
| pl | Rzekoma niedoczynność przytarczyc typu 1B | |
| cs | Pseudohypoparatyreóza, typ 1B | |
| uk | Псевдогіпопаратиреоз, тип 1B | |
| zh | 假性甲状旁腺功能减退症1B型 | |
| tr | Psödohipoparatiroidizm tip 1B |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603233 | E | validated | |
| ICD-10 | E20.1 | NTBT | attributed | validated |
| ICD-11 | 5A50.1 | NTBT | index | validated |
| MONDO | 0011301 | E | validated | |
| MeSH | C548075 | E | validated | |
| UMLS | C1864100 | E | validated | |
| GARD | 10680 | 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 (2):
- ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:97593Pseudohypoparathyroidism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases
No children.
Genes
2 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 | |
| STX16 | Disease-causing germline mutation(s) in | Assessed | HGNC:11431 | ENSG00000124222 | 603666 | 20q13.32 | syntaxin 16 |
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
39 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 | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000293 | Full cheeks | |
| HP:0000639 | Nystagmus | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0000739 | Anxiety | |
| HP:0100749 | Chest pain | |
| HP:0000509 | Conjunctivitis | |
| HP:0003909 | Cortical subperiosteal resorption of humeral metaphyses | |
| HP:0000716 | Depression | |
| HP:0003034 | Diaphyseal sclerosis | |
| HP:0100660 | Dyskinesia | |
| HP:0002094 | Dyspnea | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0001265 | Hyporeflexia | |
| HP:0005700 | Increased bone density with cystic changes | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000737 | Irritability | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0003394 | Muscle spasm | |
| HP:0003739 | Myoclonic spasms | |
| HP:0003401 | Paresthesia | |
| HP:0001657 | Prolonged QT interval | |
| Very rare (<4-1%) | ||
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002199 | Hypocalcemic seizures | |
| HP:0008227 | Pituitary resistance to thyroid hormone | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0003761 | Calcinosis | |
| HP:0010766 | Ectopic calcification | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21816789[PMID]_2109828[PMID]_9506735[PMID]_10700702[PMID]_2848415[PMID]_10478236[PMID]_20610593[PMID]_20719837[PMID]_21525160[PMID]_24684469[PMID]_11834431[PMID]_24030943[PMID]_26160136[PMID]_8427051[PMID]_18650515[PMID]_18535072[PMID]_11067869[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94089
- This record as JSON: /data/d/94089.json