MCID: HYP599
MIFTS: 38

Hypoparathyroidism, Familial Isolated malady

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

Aliases & Classifications for Hypoparathyroidism, Familial Isolated

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Sources:
49OMIM, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

Name: Hypoparathyroidism, Familial Isolated 49 67
Familial Isolated Hypoparathyroidism 22 51 24
Hypoparathyroidism, Autosomal Recessive 49 65
Autosomal Recessive Hypoparathyroidism 67 24
 
Hypoparathyroidism Familial Isolated 45 65
Fih 22 67
Hypoparathyroidism, Autosomal Dominant 49
Autosomal Dominant Hypoparathyroidism 67

Characteristics:

Orphanet epidemiological data:

51
familial isolated hypoparathyroidism:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

61
hypoparathyroidism, familial isolated:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146200
Orphanet51 2238
UMLS via Orphanet66 C1832648
ICD10 via Orphanet28 E20.8
MESH via Orphanet37 C537156
MedGen34 C1840334
MeSH36 D007011
UMLS65 C1832648, C1840334

Summaries for Hypoparathyroidism, Familial Isolated

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OMIM:49 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:67 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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Diseases in the Hypoparathyroidism, Familial Isolated family:

Casr-Related Familial Isolated Hypoparathyroidism Gcm2-Related Familial Isolated Hypoparathyroidism
Pth-Related Familial Isolated Hypoparathyroidism Familial Isolated Hypoparathyroidism Due to Impaired Pth Secretion
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland

Diseases related to Hypoparathyroidism, Familial Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1casr-associated familial isolated hypoparathyroidism12.5
2casr-related familial isolated hypoparathyroidism12.5
3gcm2-related familial isolated hypoparathyroidism12.5
4pth-related familial isolated hypoparathyroidism12.5
5familial isolated hypoparathyroidism due to impaired pth secretion12.5
6familial isolated hypoparathyroidism due to agenesis of parathyroid gland12.5
7hypocalcemia, autosomal dominant11.4
8rheumatoid arthritis10.2
9myocardial infarction10.2
10neural tube defects10.2
11fish-eye disease10.2
12arthritis10.2
13western equine encephalitis10.2
14protein-energy malnutrition10.2
15sympathetic ophthalmia10.2
16cryptococcosis10.2
17glossopharyngeal neuralgia10.2
18glomus tumor10.2
19eye disease10.2
20thyroiditis10.2
21dextrocardia10.2
22encephalitis10.2
23endotheliitis10.2
24asthma10.1
25angina pectoris10.1
26glycogen storage disease10.1
27alveolar echinococcosis10.1
28locked-in syndrome10.1
29echinococcosis10.1
30allergic encephalomyelitis10.1
31lung cancer10.0
32hiv-110.0
33hepatitis10.0
34hellp syndrome10.0
35biliary atresia10.0
36vaccinia10.0
37adenosquamous carcinoma10.0
38myocarditis10.0
39biliary hypoplasia10.0
40giant cell myocarditis10.0
41dysautonomia10.0
42esophageal varix9.7GCM2, PTH
43retinitis pigmentosa 629.6GCM2, PTH
44angelucci's syndrome9.5GCM2, PTH

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

Symptoms:

 51 (show all 14)
  • renal disease/nephropathy
  • hypoparathyroidy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myopathy
  • phosphocalcic metabolism anomalies
  • hypocalcemia
  • short stature/dwarfism/nanism
  • cataract/lens opacification
  • enamel anomaly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • cardiac rhythm disorder/arrhythmia
  • intracranial/cerebral calcifications
  • autosomal dominant inheritance
  • autosomal recessive inheritance

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 hyperphosphatemia HP:0002905
14 hypocalcemia HP:0002901
15 cerebral calcification HP:0002514
16 tetany HP:0001281
17 seizures HP:0001250
18 hypoparathyroidism HP:0000829
19 cataract HP:0000518

Drugs & Therapeutics for Hypoparathyroidism, Familial Isolated

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Drugs for Hypoparathyroidism, Familial Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Calcium, DietaryPhase 24678

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study to Determine the Effects of NPSP795 on the Calcium-sensing Receptor in Subjects With Autosomal Dominant Hypocalcemia as Measured by PTH Levels and Blood Calcium ConcentrationsCompletedNCT02204579Phase 2
2Hypoparathyroidism in DenmarkCompletedNCT01498341
3Characterization of Patients With Non-surgical Hypoparathyroidism and PseudohypoparathyroidismRecruitingNCT02551120

Search 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 Familial Isolated Hypoparathyroidism22 PTH

Anatomical Context for Hypoparathyroidism, Familial Isolated

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MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated:

33
Thymus, Eye

Animal Models for Hypoparathyroidism, Familial Isolated or affiliated genes

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MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated:

38
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:

67
id Symbol AA change Variation ID SNP ID
1GCM2p.Arg47LeuVAR_058044
2GCM2p.Gly63SerVAR_058045
3GCM2p.Arg110TrpVAR_065495
4GCM2p.Asn502HisVAR_065498rs533942394
5PTHp.Cys18ArgVAR_006047
6PTHp.Ser23ProVAR_018464

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

Sources for Hypoparathyroidism, Familial Isolated

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet