Pseudohypoparathyroidism type 1B

General Information (adopted from Orphanet):

Synonyms, Signs: PHP IB
PHP1B
Number of Symptoms 13
OrphanetNr: 94089
OMIM Id: 603233
ICD-10: E20.1
UMLs: C2932715
MeSH: C548075
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic renal tubular disease
 -Rare genetic disease
Pseudohypoparathyroidism
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare renal disease
Rare renal tubular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000852) Pseudohypoparathyroidism 6 / 7739
2
(HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
3
(HPO:0003456) Low urinary cyclic AMP response to PTH administration 4 / 7739
4
(HPO:0010049) Short metacarpal rare [HPO:skoehler] 99 / 7739
5
(HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
6
(HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
7
(HPO:0002901) Hypocalcemia 56 / 7739
8
(HPO:0002905) Hyperphosphatemia 18 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Renal resistance to PTH 1 / 7739
11
(HPO:0003745) Sporadic 131 / 7739
12
(OMIM) Normal erythrocyte Gs activity 2 / 7739
13
(OMIM) Osteitis fibrosa cystica due to elevated parathyroid hormone (PTH) (subset of patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show ...
Clinical Description OMIM Frame et al. (1972) reported 2 patients with renal resistance to parathyroid hormone characterized by hypocalcemia and hyperphosphatemia and associated with osteitis fibrosa cystica. Frame et al. (1972) postulated that renal PTH resistance was the primary defect and ...
Molecular genetics OMIM Liu et al. (2000) showed that the human GNAS exon 1A promoter region, located 2.5 kb upstream from exon 1 of the Gs-alpha transcript, is within a differentially methylated region (DMR) and is imprinted in a manner similar ...