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:
50OMIM, 68UniProtKB/Swiss-Prot, 46NIH Rare Diseases, 66UMLS, 23GeneTests, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

Name: Hypoparathyroidism, Familial Isolated 50 68
Familial Isolated Hypoparathyroidism 23 52 25
Autosomal Recessive Hypoparathyroidism 68 25
Hypoparathyroidism Familial Isolated 46 66
Fih 23 68
 
Familial Isolated Hypoparathyroidism Due to Impaired Pth Secretion 52
Hypoparathyroidism, Autosomal Recessive 50
Hypoparathyroidism, Autosomal Dominant 50
Autosomal Dominant Hypoparathyroidism 68

Characteristics:

Orphanet epidemiological data:

52
familial isolated hypoparathyroidism due to impaired pth secretion:
Inheritance: Autosomal dominant,Autosomal recessive
familial isolated hypoparathyroidism:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

62
hypoparathyroidism, familial isolated:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 146200
ICD10 via Orphanet29 E20.8
UMLS via Orphanet67 C1832648
MESH via Orphanet38 C537156
MedGen35 C1840334
MeSH37 D007011

Summaries for Hypoparathyroidism, Familial Isolated

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OMIM:50 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:68 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 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

Symptoms:

 52 (show all 12)
  • nephropathy
  • cataract
  • abnormality of dental enamel
  • delayed eruption of teeth
  • hypoparathyroidism
  • seizures
  • cerebral calcification
  • hypocalcemia
  • myopathy
  • short stature
  • arrhythmia
  • abnormality of calcium-phosphate metabolism

HPO human phenotypes related to Hypoparathyroidism, Familial Isolated:

(show all 19)
id Description Frequency HPO Source Accession
1 nephropathy hallmark (90%) HP:0000112
2 hypoparathyroidism hallmark (90%) HP:0000829
3 seizures hallmark (90%) HP:0001250
4 hypocalcemia hallmark (90%) HP:0002901
5 myopathy hallmark (90%) HP:0003198
6 short stature hallmark (90%) HP:0004322
7 abnormality of calcium-phosphate metabolism hallmark (90%) HP:0100530
8 cataract typical (50%) HP:0000518
9 abnormality of dental enamel typical (50%) HP:0000682
10 delayed eruption of teeth typical (50%) HP:0000684
11 cerebral calcification typical (50%) HP:0002514
12 arrhythmia typical (50%) HP:0011675
13 cataract HP:0000518
14 hypoparathyroidism HP:0000829
15 seizures HP:0001250
16 tetany HP:0001281
17 cerebral calcification HP:0002514
18 hypocalcemia HP:0002901
19 hyperphosphatemia 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 Isolated25
2 Hypoparathyroidism, Autosomal Recessive25
3 Familial Isolated Hypoparathyroidism23 PTH

Anatomical Context for Hypoparathyroidism, Familial Isolated

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MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated:

34
Thymus, Eye

Animal Models for Hypoparathyroidism, Familial Isolated or affiliated genes

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MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated:

39
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:

68
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)single nucleotide variantPathogenicrs104894271GRCh37Chr 11, 13514351: 13514351
2PTHPTH, IVS2DS, G-C, +1, EX2DELdeletionPathogenic
3PTHNM_000315.3(PTH): c.67T> C (p.Ser23Pro)single nucleotide variantPathogenicrs104894272GRCh37Chr 11, 13514336: 13514336
4CASRNM_000388.3(CASR): c.1934C> A (p.Ala645Asp)single nucleotide variantLikely pathogenicrs193922430GRCh37Chr 3, 122002735: 122002735
5GCM2GCM2, EX1-4DELdeletionPathogenic
6GCM2NM_004752.3(GCM2): c.140G> T (p.Arg47Leu)single nucleotide variantPathogenicrs104893959GRCh37Chr 6, 10877576: 10877576
7GCM2NM_004752.3(GCM2): c.187G> A (p.Gly63Ser)single nucleotide variantPathogenicrs104893960GRCh37Chr 6, 10877529: 10877529
8GCM2GCM2, 1-BP DEL, 893TdeletionPathogenic

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
1cellular calcium ion homeostasisGO:00068749.1GCM2, PTH
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.0GCM2, PTH

Sources for Hypoparathyroidism, Familial Isolated

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet