Pseudohypoparathyroidism type 1C

General Information (adopted from Orphanet):

Synonyms, Signs: PHP IC
PHP1C
Number of Symptoms 33
OrphanetNr: 79444
OMIM Id: 612462
ICD-10: E20.1
UMLs: C2932716
MeSH: C548076
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:0000311) Round face 104 / 7739
3
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
 (HPO:0000470) Short neck 345 / 7739
5
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000293) Full cheeks 85 / 7739
8
 (HPO:0000518) Cataract 454 / 7739
9
 (HPO:0000639) Nystagmus 555 / 7739
10
 (HPO:0003472) Hypocalcemic tetany 3 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0100543) Cognitive impairment 230 / 7739
14
 (HPO:0003456) Low urinary cyclic AMP response to PTH administration 4 / 7739
15
 (HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
16
 (HPO:0000821) Hypothyroidism 141 / 7739
17
 (HPO:0000852) Pseudohypoparathyroidism 6 / 7739
18
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
19
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
20
 (HPO:0004686) Short third metatarsal 9 / 7739
21
 (HPO:0010049) Short metacarpal 99 / 7739
22
 (HPO:0006960) Choroid plexus calcification 5 / 7739
23
 (HPO:0010743) Short metatarsal 56 / 7739
24
 (HPO:0000939) Osteoporosis 129 / 7739
25
 (HPO:0002135) Basal ganglia calcification 37 / 7739
26
 (HPO:0001513) Obesity 172 / 7739
27
 (HPO:0004322) Short stature 1232 / 7739
28
 (HPO:0002901) Hypocalcemia 56 / 7739
29
 (HPO:0002905) Hyperphosphatemia 18 / 7739
30
 (MedDRA:10072883) Brachydactyly 153 / 7739
31
 (OMIM) Normal erythrocyte Gs activity 2 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
 (OMIM) Subcutaneous ossifications 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pseudohypoparathyroidism type Ic (PHP1C) is characterized by resistance to parathyroid hormone (PTH; 168450) as well as to other hormones. It is associated with a constellation of physical features referred to as Albright hereditary osteodystrophy (AHO), which includes short ...
Clinical Description OMIM Farfel et al. (1981) reported a family in which several affected individuals had classic PHP type I, including PTH-resistance, hypothyroidism, and skeletal abnormalities such as short stature and brachydactyly. There was a decreased urinary cAMP response to PTH, ...
Molecular genetics OMIM In a patient with a phenotype consistent with PHP Ic, Linglart et al. (2002) identified a heterozygous nonsense mutation in the GNAS gene (Y391X; 139320.0035) that terminated the protein only 4 amino acids before the wildtype stop codon. ...