Pseudohypoparathyroidism type 1A

General Information (adopted from Orphanet):

Synonyms, Signs: ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE
PHP IA
PHP1A
AHO - PHP Ia
Albright hereditary osteodystrophy - PHP Ia
Number of Symptoms 31
OrphanetNr: 79443
OMIM Id: 103580
ICD-10: E20.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Albright hereditary osteodystrophy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease
 -Rare renal disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000470) Short neck 345 / 7739
3
(HPO:0000684) Delayed eruption of teeth 117 / 7739
4
(HPO:0000311) Round face 104 / 7739
5
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
6
(HPO:0000293) Full cheeks 85 / 7739
7
(HPO:0005280) Depressed nasal bridge 381 / 7739
8
(HPO:0000518) Cataract 454 / 7739
9
(HPO:0000639) Nystagmus 555 / 7739
10
(HPO:0100543) Cognitive impairment 230 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0003472) Hypocalcemic tetany 3 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0000821) Hypothyroidism 141 / 7739
15
(HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
16
(HPO:0000852) Pseudohypoparathyroidism 6 / 7739
17
(HPO:0003456) Low urinary cyclic AMP response to PTH administration 4 / 7739
18
(HPO:0005720) Shortening of all metacarpals 12 / 7739
19
(HPO:0004686) Short third metatarsal 9 / 7739
20
(HPO:0000939) Osteoporosis 129 / 7739
21
(HPO:0010049) Short metacarpal 99 / 7739
22
(HPO:0006960) Choroid plexus calcification 5 / 7739
23
(HPO:0002135) Basal ganglia calcification 37 / 7739
24
(HPO:0010743) Short metatarsal 56 / 7739
25
(HPO:0004322) Short stature 1232 / 7739
26
(HPO:0001513) Obesity 172 / 7739
27
(HPO:0002905) Hyperphosphatemia 18 / 7739
28
(HPO:0002901) Hypocalcemia 56 / 7739
29
(MedDRA:10072883) Brachydactyly 153 / 7739
30
(OMIM) Reduced erythrocyte Gs activity 2 / 7739
31
(OMIM) Subcutaneous ossifications 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH; 168450). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating ...
Clinical Description OMIM Albright et al. (1942) described 3 patients with short stature, round face, short neck, obesity, subcutaneous calcifications, and shortened metacarpals associated with hypocalcemia and hyperphosphatemia. Although the phenotype resembled parathyroid hormone deficiency, renal function was normal and apparently ...
Molecular genetics OMIM Levine et al. (1988) studied 8 kindreds with 1 or more members affected with AHO or PHP and decreased activity of the Gs protein. RNA blot analysis showed about 50% reduced GNAS1 mRNA levels in fibroblasts of affected ...