MCID: HYP599
MIFTS: 35

Hypoparathyroidism, Familial Isolated malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases

Aliases & Classifications for Hypoparathyroidism, Familial Isolated

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Sources:
24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

Name: Hypoparathyroidism, Familial Isolated 51 69
Familial Isolated Hypoparathyroidism 24 53 26
Hypoparathyroidism, Autosomal Recessive 51 67
Autosomal Recessive Hypoparathyroidism 69 26
Hypoparathyroidism Familial Isolated 47 67
 
Fih 24 69
Familial Isolated Hypoparathyroidism Due to Impaired Pth Secretion 53
Hypoparathyroidism - Autosomal Dominant 67
Hypoparathyroidism, Autosomal Dominant 51
Autosomal Dominant Hypoparathyroidism 69

Characteristics:

Orphanet epidemiological data:

53
familial isolated hypoparathyroidism:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages
familial isolated hypoparathyroidism due to impaired pth secretion:
Inheritance: Autosomal dominant,Autosomal recessive

HPO:

63
hypoparathyroidism, familial isolated:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 146200
ICD10 via Orphanet30 E20.8
MESH via Orphanet39 C537156
UMLS via Orphanet68 C1832648
MedGen36 C1840334
MeSH38 D007011

Summaries for Hypoparathyroidism, Familial Isolated

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OMIM:51 Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that... (146200) more...

MalaCards based summary: Hypoparathyroidism, Familial Isolated, also known as familial isolated hypoparathyroidism, is related to casr-associated familial isolated hypoparathyroidism and casr-related familial isolated hypoparathyroidism, and has symptoms including nephropathy, hypoparathyroidism and seizures. An important gene associated with Hypoparathyroidism, Familial Isolated is PTH (Parathyroid Hormone). Affiliated tissues include thymus and eye, and related mouse phenotype craniofacial.

UniProtKB/Swiss-Prot:69 Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.

Related Diseases for Hypoparathyroidism, Familial Isolated

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Graphical network of the top 20 diseases related to Hypoparathyroidism, Familial Isolated:



Diseases related to hypoparathyroidism, familial isolated

Symptoms for Hypoparathyroidism, Familial Isolated

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Symptoms by clinical synopsis from OMIM:

146200

Clinical features from OMIM:

146200

Human phenotypes related to Hypoparathyroidism, Familial Isolated:

 63 53 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy63 53 hallmark (90%) Very frequent (99-80%) HP:0000112
2 hypoparathyroidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000829
3 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
4 hypocalcemia63 53 hallmark (90%) Very frequent (99-80%) HP:0002901
5 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
6 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
7 abnormality of calcium-phosphate metabolism63 53 hallmark (90%) Very frequent (99-80%) HP:0100530
8 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
9 abnormality of dental enamel63 53 typical (50%) Frequent (79-30%) HP:0000682
10 delayed eruption of teeth63 53 typical (50%) Frequent (79-30%) HP:0000684
11 cerebral calcification63 53 typical (50%) Frequent (79-30%) HP:0002514
12 arrhythmia63 53 typical (50%) Frequent (79-30%) HP:0011675
13 tetany63 HP:0001281
14 hyperphosphatemia63 HP:0002905

Drugs & Therapeutics for Hypoparathyroidism, Familial Isolated

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypoparathyroidism, Familial Isolated

Genetic Tests for Hypoparathyroidism, Familial Isolated

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Genetic tests related to Hypoparathyroidism, Familial Isolated:

id Genetic test Affiliating Genes
1 Hypoparathyroidism Familial Isolated26
2 Hypoparathyroidism, Autosomal Recessive26
3 Familial Isolated Hypoparathyroidism24 PTH

Anatomical Context for Hypoparathyroidism, Familial Isolated

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MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated:

35
Thymus, Eye

Animal Models for Hypoparathyroidism, Familial Isolated or affiliated genes

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MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1GCM2, PTH

Publications for Hypoparathyroidism, Familial Isolated

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Variations for Hypoparathyroidism, Familial Isolated

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UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Familial Isolated:

69
id Symbol AA change Variation ID SNP ID
1GCM2p.Arg47LeuVAR_058044rs104893959
2GCM2p.Gly63SerVAR_058045rs104893960
3GCM2p.Arg110TrpVAR_065495rs780594439
4GCM2p.Asn502HisVAR_065498rs533942394
5PTHp.Cys18ArgVAR_006047rs104894271
6PTHp.Ser23ProVAR_018464rs104894272

Clinvar genetic disease variations for Hypoparathyroidism, Familial Isolated:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTHNM_000315.3(PTH): c.52T> C (p.Cys18Arg)SNVPathogenicrs104894271GRCh37Chr 11, 13514351: 13514351
2PTHPTH, IVS2DS, G-C, +1, EX2DELdeletionPathogenicChr na, -1: -1
3PTHNM_000315.3(PTH): c.67T> C (p.Ser23Pro)SNVPathogenicrs104894272GRCh37Chr 11, 13514336: 13514336
4CASRNM_000388.3(CASR): c.1934C> A (p.Ala645Asp)SNVLikely pathogenicrs193922430GRCh37Chr 3, 122002735: 122002735
5GCM2GCM2, EX1-4DELdeletionPathogenicChr na, -1: -1
6GCM2NM_004752.3(GCM2): c.140G> T (p.Arg47Leu)SNVPathogenicrs104893959GRCh37Chr 6, 10877576: 10877576
7GCM2NM_004752.3(GCM2): c.187G> A (p.Gly63Ser)SNVPathogenicrs104893960GRCh37Chr 6, 10877529: 10877529
8GCM2NM_004752.3(GCM2): c.893delT (p.Ile298Thrfs)deletionPathogenicrs886037646GRCh37Chr 6, 10874856: 10874856

Expression for genes affiliated with Hypoparathyroidism, Familial Isolated

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Search GEO for disease gene expression data for Hypoparathyroidism, Familial Isolated.

Pathways for genes affiliated with Hypoparathyroidism, Familial Isolated

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GO Terms for genes affiliated with Hypoparathyroidism, Familial Isolated

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Biological processes related to Hypoparathyroidism, Familial Isolated according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.1GCM2, PTH
2cellular calcium ion homeostasisGO:00068748.8GCM2, PTH

Sources for Hypoparathyroidism, Familial Isolated

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet