PHP1C
MCID: PSD058
MIFTS: 28

Pseudohypoparathyroidism Ic (PHP1C) malady

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

Aliases & Classifications for Pseudohypoparathyroidism Ic

Aliases & Descriptions for Pseudohypoparathyroidism Ic:

Name: Pseudohypoparathyroidism Ic 54 24 13
Pseudohypoparathyroidism Type 1c 50 56 69
Pseudohypoparathyroidism 1c 66 29
Php1c 50 66
Pseudohypoparathyroidism, Type Ic 54

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
pseudohypoparathyroidism ic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612462
Orphanet 56 ORPHA79444
MESH via Orphanet 43 C548076
UMLS via Orphanet 70 C2932716
ICD10 via Orphanet 34 E20.1
MeSH 42 D011547

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, also known as pseudohypoparathyroidism type 1c, is related to pseudohypoparathyroidism, and has symptoms including dyspnea, chest pain and abdominal symptom. An important gene associated with Pseudohypoparathyroidism Ic is GNAS (GNAS Complex Locus). Affiliated tissues include bone, skin and eye.

OMIM : 54 Pseudohypoparathyroidism type Ic (PHP1C) is characterized by resistance to parathyroid hormone (PTH; 168450) as well as... (612462) more...

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Pseudohypoparathyroidism Ic

Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ic
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ii

Diseases related to Pseudohypoparathyroidism Ic via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 10.1

Symptoms & Phenotypes for Pseudohypoparathyroidism Ic

Symptoms by clinical synopsis from OMIM:

612462

Clinical features from OMIM:

612462

Human phenotypes related to Pseudohypoparathyroidism Ic:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 56 32 Occasional (29-5%) HP:0002094
2 chest pain 56 32 Occasional (29-5%) HP:0100749
3 abdominal symptom 56 32 Occasional (29-5%) HP:0011458
4 short neck 56 32 Frequent (79-30%) HP:0000470
5 obesity 56 32 Frequent (79-30%) HP:0001513
6 nystagmus 56 32 Frequent (79-30%) HP:0000639
7 depression 56 32 Occasional (29-5%) HP:0000716
8 intellectual disability 56 32 Frequent (79-30%) HP:0001249
9 cataract 56 32 Frequent (79-30%) HP:0000518
10 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
11 short stature 56 32 Frequent (79-30%) HP:0004322
12 full cheeks 56 32 Frequent (79-30%) HP:0000293
13 irritability 56 32 Occasional (29-5%) HP:0000737
14 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
15 anxiety 56 32 Occasional (29-5%) HP:0000739
16 short 4th metacarpal 56 32 Frequent (79-30%) HP:0010044
17 prolonged qt interval 56 32 Occasional (29-5%) HP:0001657
18 paresthesia 56 32 Occasional (29-5%) HP:0003401
19 hypergonadotropic hypogonadism 56 32 Occasional (29-5%) HP:0000815
20 muscle cramps 56 32 Occasional (29-5%) HP:0003394
21 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
22 round face 56 32 Frequent (79-30%) HP:0000311
23 elevated circulating parathyroid hormone level 56 32 Very frequent (99-80%) HP:0003165
24 conjunctivitis 56 32 Occasional (29-5%) HP:0000509
25 increased bone mineral density 56 32 Occasional (29-5%) HP:0011001
26 hyporeflexia 56 32 Occasional (29-5%) HP:0001265
27 polyphagia 56 32 Frequent (79-30%) HP:0002591
28 short metacarpal 56 32 Frequent (79-30%) HP:0010049
29 confusion 56 32 Occasional (29-5%) HP:0001289
30 short metatarsal 56 32 Frequent (79-30%) HP:0010743
31 short 5th metacarpal 56 32 Frequent (79-30%) HP:0010047
32 growth hormone deficiency 56 32 Frequent (79-30%) HP:0000824
33 hypoplasia of dental enamel 56 32 Frequent (79-30%) HP:0006297
34 hyperphosphatemia 56 32 Very frequent (99-80%) HP:0002905
35 hypocalcemic seizures 56 32 Very rare (<4-1%) HP:0002199
36 oligomenorrhea 56 32 Occasional (29-5%) HP:0000876
37 ectopic ossification 56 32 Frequent (79-30%) HP:0011986
38 hypocalcemic tetany 56 32 Occasional (29-5%) HP:0003472
39 pseudohypoparathyroidism 56 32 Obligate (100%) HP:0000852
40 low urinary cyclic amp response to pth administration 56 32 Very frequent (99-80%) HP:0003456
41 myoclonic spasms 56 32 Occasional (29-5%) HP:0003739
42 laryngeal dystonia 56 32 Occasional (29-5%) HP:0012049
43 calcinosis 56 32 Occasional (29-5%) HP:0003761
44 prolactin deficiency 56 32 Very rare (<4-1%) HP:0008202
45 pituitary resistance to thyroid hormone 56 32 Very frequent (99-80%) HP:0008227
46 basal ganglia calcification 56 32 Frequent (79-30%) HP:0002135
47 short fifth metatarsal 56 32 Frequent (79-30%) HP:0004704
48 choroid plexus calcification 56 32 Frequent (79-30%) HP:0006960
49 constrictive median neuropathy 56 32 Frequent (79-30%) HP:0012185
50 broad distal phalanx of the thumb 56 32 Occasional (29-5%) HP:0009642

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, Eye, Thyroid, Pituitary

Publications for Pseudohypoparathyroidism Ic

Variations for Pseudohypoparathyroidism Ic

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

66
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 GRCh37 Chromosome 20, 57485046: 57485046

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....