MCID: PSD058
MIFTS: 29

Pseudohypoparathyroidism Ic

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases

Aliases & Classifications for Pseudohypoparathyroidism Ic

MalaCards integrated aliases for Pseudohypoparathyroidism Ic:

Name: Pseudohypoparathyroidism Ic 54 24 13
Pseudohypoparathyroidism Type 1c 50 56 29 69
Php1c 50 71
Pseudohypoparathyroidism 1c 71

Characteristics:

Orphanet epidemiological data:

56
pseudohypoparathyroidism type 1c
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
caused by inheritance of the mutation on the maternal allele (imprinting)
see also pseudohypoparathyroidism type ia


HPO:

32
pseudohypoparathyroidism ic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pseudohypoparathyroidism Ic

NIH Rare Diseases : 50 pseudohypoparathyroidism type 1c is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). however, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. this causes low calcium and high phosphate levels in the blood. this condition is also associated with  a group of symptoms referred to as albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. this disorder is different than pseudohypoparathyroidism type 1a because people with type 1c do not have abnormal activity of a particular protein (stimulatory protein g (gs alpha)). type 1c is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the gnas gene. last updated: 1/7/2016

MalaCards based summary : Pseudohypoparathyroidism Ic, is also known as pseudohypoparathyroidism type 1c, and has symptoms including short stature, nystagmus and hyporeflexia. An important gene associated with Pseudohypoparathyroidism Ic is GNAS (GNAS Complex Locus). Affiliated tissues include bone, skin and thyroid.

UniProtKB/Swiss-Prot : 71 Pseudohypoparathyroidism 1C: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification.

OMIM : 54
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 stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. Laboratory studies in patients with PHP Ic show a decreased cellular cyclic AMP (cAMP) response to infused PTH, but no defect in activity of the erythrocyte Gs protein (Mantovani and Spada, 2006). (612462)

Related Diseases for Pseudohypoparathyroidism Ic

Symptoms & Phenotypes for Pseudohypoparathyroidism Ic

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal- Feet:
brachydactyly
short metatarsals (especially 4th and 5th)

Head And Neck- Eyes:
nystagmus
cataract

Skeletal:
osteoporosis

Endocrine Features:
hypogonadism
hypothyroidism
pseudohypoparathyroidism

Head And Neck- Nose:
low nasal bridge

Growth- Weight:
obesity

Neurologic- Peripheral Nervous System:
hypocalcemic tetany

Skeletal- Hands:
brachydactyly
short metacarpals (especially 4th and 5th)

Neurologic- Central Nervous System:
mental retardation
seizures
cognitive deficits
basal ganglion calcification
hypocalcemic tetany
more
Head And Neck- Face:
round face
full cheeks

Head And Neck- Neck:
short neck

Head And Neck- Teeth:
enamel hypoplasia
delayed tooth eruption

Laboratory- Abnormalities:
hypocalcemia
hyperphosphatemia
elevated serum parathyroid hormone (pth) level
low urinary cyclic amp response to pth administration
normal erythrocyte gs activity

Skin Nails & Hair- Skin:
subcutaneous ossifications


Clinical features from OMIM:

612462

Human phenotypes related to Pseudohypoparathyroidism Ic:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
3 hyporeflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001265
4 irritability 56 32 occasional (7.5%) Occasional (29-5%) HP:0000737
5 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
6 round face 56 32 frequent (33%) Frequent (79-30%) HP:0000311
7 muscle cramps 56 32 occasional (7.5%) Occasional (29-5%) HP:0003394
8 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
9 short 4th metacarpal 56 32 frequent (33%) Frequent (79-30%) HP:0010044
10 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
11 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
12 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
13 full cheeks 56 32 frequent (33%) Frequent (79-30%) HP:0000293
14 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
15 confusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0001289
16 growth hormone deficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000824
17 hypocalcemic seizures 56 32 very rare (1%) Very rare (<4-1%) HP:0002199
18 hyperphosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002905
19 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
20 conjunctivitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000509
21 hypergonadotropic hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000815
22 basal ganglia calcification 56 32 frequent (33%) Frequent (79-30%) HP:0002135
23 anxiety 56 32 occasional (7.5%) Occasional (29-5%) HP:0000739
24 laryngeal dystonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0012049
25 oligomenorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000876
26 chest pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0100749
27 myoclonic spasms 56 32 occasional (7.5%) Occasional (29-5%) HP:0003739
28 ectopic ossification 56 32 frequent (33%) Frequent (79-30%) HP:0011986
29 short metacarpal 56 32 Frequent (79-30%) HP:0010049
30 paresthesia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003401
31 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
32 polyphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002591
33 short metatarsal 56 32 Frequent (79-30%) HP:0010743
34 increased bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0011001
35 short 5th metacarpal 56 32 frequent (33%) Frequent (79-30%) HP:0010047
36 constrictive median neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0012185
37 prolonged qt interval 56 32 occasional (7.5%) Occasional (29-5%) HP:0001657
38 hypocalcemic tetany 56 32 occasional (7.5%) Occasional (29-5%) HP:0003472
39 pseudohypoparathyroidism 56 32 obligate (100%) Obligate (100%) HP:0000852
40 low urinary cyclic amp response to pth administration 56 32 hallmark (90%) Very frequent (99-80%) HP:0003456
41 calcinosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003761
42 choroid plexus calcification 56 32 frequent (33%) Frequent (79-30%) HP:0006960
43 elevated circulating parathyroid hormone level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003165
44 hypoplasia of dental enamel 56 32 frequent (33%) Frequent (79-30%) HP:0006297
45 abdominal symptom 56 32 occasional (7.5%) Occasional (29-5%) HP:0011458
46 prolactin deficiency 56 32 very rare (1%) Very rare (<4-1%) HP:0008202
47 pituitary resistance to thyroid hormone 56 32 hallmark (90%) Very frequent (99-80%) HP:0008227
48 short fifth metatarsal 56 32 frequent (33%) Frequent (79-30%) HP:0004704
49 broad distal phalanx of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0009642
50 short 3rd metacarpal 56 32 occasional (7.5%) Occasional (29-5%) HP:0010041

UMLS symptoms related to Pseudohypoparathyroidism Ic:


seizures

Drugs & Therapeutics for Pseudohypoparathyroidism Ic

Search Clinical Trials , NIH Clinical Center for Pseudohypoparathyroidism Ic

Genetic Tests for Pseudohypoparathyroidism Ic

Genetic tests related to Pseudohypoparathyroidism Ic:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type 1c 29
2 Pseudohypoparathyroidism Ic 24 GNAS

Anatomical Context for Pseudohypoparathyroidism Ic

MalaCards organs/tissues related to Pseudohypoparathyroidism Ic:

39
Bone, Skin, Thyroid, Pituitary, Eye

Publications for Pseudohypoparathyroidism Ic

Variations for Pseudohypoparathyroidism Ic

UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoparathyroidism Ic:

71
id Symbol AA change Variation ID SNP ID
1 GNAS p.Leu388Arg VAR_066387 rs397514457
2 GNAS p.Glu392Lys VAR_066388 rs397514456

ClinVar genetic disease variations for Pseudohypoparathyroidism Ic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS GNAS, TYR391TER undetermined variant Pathogenic
2 GNAS NM_001077488.3(GNAS): c.1177G> T (p.Glu393Ter) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
3 GNAS NM_001077488.3(GNAS): c.1166T> G (p.Leu389Arg) single nucleotide variant Pathogenic rs397514457 GRCh37 Chromosome 20, 57485862: 57485862
4 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
5 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh38 Chromosome 20, 58909991: 58909991

Expression for Pseudohypoparathyroidism Ic

Search GEO for disease gene expression data for Pseudohypoparathyroidism Ic.

Pathways for Pseudohypoparathyroidism Ic

GO Terms for Pseudohypoparathyroidism Ic

Sources for Pseudohypoparathyroidism Ic

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70 UMLS via Orphanet
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