FIH
MCID: HYP599
MIFTS: 34

Hypoparathyroidism, Familial Isolated (FIH) malady

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

Aliases & Classifications for Hypoparathyroidism, Familial Isolated

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Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

Name: Hypoparathyroidism, Familial Isolated 52 70
Familial Isolated Hypoparathyroidism 24 54 27
Hypoparathyroidism, Autosomal Recessive 52 68
Autosomal Recessive Hypoparathyroidism 70 27
Hypoparathyroidism Familial Isolated 48 68
 
Fih 24 70
Familial Isolated Hypoparathyroidism Due to Impaired Pth Secretion 54
Hypoparathyroidism - Autosomal Dominant 68
Hypoparathyroidism, Autosomal Dominant 52
Autosomal Dominant Hypoparathyroidism 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
hypoparathyroidism, familial isolated:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 146200
ICD10 via Orphanet31 E20.8
MESH via Orphanet40 C537156
UMLS via Orphanet69 C1832648
MedGen37 C1840334
MeSH39 D007011

Summaries for Hypoparathyroidism, Familial Isolated

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OMIM:52 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 Array, Array and Array. 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:70 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 & Phenotypes 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:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy64 54 Very frequent (99-80%) HP:0000112
2 cataract64 54 Frequent (79-30%) HP:0000518
3 abnormality of dental enamel64 54 Frequent (79-30%) HP:0000682
4 delayed eruption of teeth64 54 Frequent (79-30%) HP:0000684
5 hypoparathyroidism64 54 Very frequent (99-80%) HP:0000829
6 seizures64 54 Very frequent (99-80%) HP:0001250
7 cerebral calcification64 54 Frequent (79-30%) HP:0002514
8 hypocalcemia64 54 Very frequent (99-80%) HP:0002901
9 myopathy64 54 Very frequent (99-80%) HP:0003198
10 short stature64 54 Very frequent (99-80%) HP:0004322
11 arrhythmia64 54 Frequent (79-30%) HP:0011675
12 abnormality of calcium-phosphate metabolism64 54 Very frequent (99-80%) HP:0100530
13 tetany64 HP:0001281
14 hyperphosphatemia64 HP:0002905

MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1GCM2, PTH

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 Isolated27
2 Hypoparathyroidism, Autosomal Recessive27
3 Familial Isolated Hypoparathyroidism24 PTH

Anatomical Context for Hypoparathyroidism, Familial Isolated

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MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated:

36
Thymus, Eye

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:

70
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, EX2DELdeletionPathogenic
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, EX1-4DELdeletionPathogenic
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
1cellular calcium ion homeostasisGO:00068749.8GCM2, PTH
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1GCM2, PTH

Sources for Hypoparathyroidism, Familial Isolated

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet