Hypoparathyroidism, Familial Isolated malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases categories

Aliases & Classifications for Hypoparathyroidism, Familial Isolated

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49OMIM, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 65UMLS, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

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


Characteristics (Orphanet epidemiological data):

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

External Ids:

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

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 hypoparathyroidism familial isolated, is related to hypoxia and casr-associated familial isolated hypoparathyroidism, and has symptoms including nephropathy, hypoparathyroidism and seizures. An important gene associated with Hypoparathyroidism, Familial Isolated is PTH (Parathyroid Hormone), and among its related pathways is Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include thymus and eye, and related mouse phenotypes are endocrine/exocrine gland and skeleton.

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 top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
2casr-associated familial isolated hypoparathyroidism10.4
3casr-related familial isolated hypoparathyroidism10.4
4gcm2-related familial isolated hypoparathyroidism10.4
5pth-related familial isolated hypoparathyroidism10.4
6familial isolated hypoparathyroidism due to impaired pth secretion10.4
7familial isolated hypoparathyroidism due to agenesis of parathyroid gland10.4
9viral infectious disease10.2
10hypocalcemia, autosomal dominant10.1
12diabetes insipidus10.1
13familial mediterranean fever, ar10.1
14ebola hemorrhagic fever10.1
15hemorrhagic fever10.1
16viral hemorrhagic fever10.1
17colorectal cancer9.9
18autoimmune disease 19.9
19systemic lupus erythematosus9.9
20systemic lupus erythematosus 19.9
21diabetes mellitus, noninsulin-dependent9.9
22diabetes mellitus, noninsulin-dependent 19.9
23systemic lupus erythematosus 29.9
24hepatitis c virus9.9
25renal cell carcinoma9.9
26mody, type ii9.9
27inflammatory bowel disease 149.9
28autoimmune disease 29.9
29systemic lupus erythematosus 129.9
30burkitt lymphoma9.9
31leukemia, chronic lymphocytic 39.9
32lymphoma, non-hodgkin9.9
33leukemia, chronic lymphocytic 19.9
34inflammatory bowel disease 29.9
35mucolipidosis ii alpha/beta9.9
36diabetes mellitus, insulin-dependent9.9
37diabetes mellitus, noninsulin-dependent, 29.9
38mody, type iv9.9
39leukemia, chronic lymphocytic 29.9
40inflammatory bowel disease 19.9
41mody, type i9.9
42adult t-cell leukemia9.9
43b-cell lymphomas9.9
44chronic lymphocytic leukemia9.9
45diffuse large b-cell lymphoma9.9
46hematologic cancer9.9
49lymphoid leukemia9.9
50mantle cell lymphoma9.9

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:


Clinical features from OMIM:



 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 20)
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 autosomal dominant inheritance HP:0000006
14 cataract HP:0000518
15 hypoparathyroidism HP:0000829
16 seizures HP:0001250
17 tetany HP:0001281
18 cerebral calcification HP:0002514
19 hypocalcemia HP:0002901
20 hyperphosphatemia HP:0002905

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 23529

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

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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:

Thymus, Eye

Animal Models for Hypoparathyroidism, Familial Isolated or affiliated genes

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MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5GCM2, GNA11, PTH
2MP:00053908.4GCM2, GNA11, PTH
3MP:00053828.2GCM2, GNA11, 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:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Hypoparathyroidism, Familial Isolated:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1PTHNM_000315.2(PTH): c.52T> C (p.Cys18Arg)single nucleotide variantPathogenicrs104894271GRCh37Chr 11, 13514351: 13514351
2PTHPTH, IVS2DS, G-C, +1, EX2DELdeletionPathogenic
3PTHNM_000315.2(PTH): c.67T> C (p.Ser23Pro)single nucleotide variantPathogenicrs104894272GRCh37Chr 11, 13514336: 13514336
4GNA11NM_002067.4(GNA11): c.179G> T (p.Arg60Leu)single nucleotide variantPathogenicrs587777707GRCh38Chr 19, 3110191: 3110191
5CASRNM_000388.3(CASR): c.1934C> A (p.Ala645Asp)single nucleotide variantLikely pathogenicrs193922430GRCh37Chr 3, 122002735: 122002735
6GNA11NM_002067.4(GNA11): c.542G> A (p.Arg181Gln)single nucleotide variantPathogenicrs587777020GRCh37Chr 19, 3115007: 3115007
7GNA11NM_002067.4(GNA11): c.1023C> G (p.Phe341Leu)single nucleotide variantPathogenicrs140749796GRCh38Chr 19, 3121122: 3121122
8GNA11NM_002067.4(GNA11): c.178C> T (p.Arg60Cys)single nucleotide variantPathogenicrs587777021GRCh37Chr 19, 3110188: 3110188
9GNA11NM_002067.4(GNA11): c.632C> G (p.Ser211Trp)single nucleotide variantPathogenicrs587777022GRCh37Chr 19, 3118948: 3118948
10GCM2GCM2, EX1-4DELdeletionPathogenic
11GCM2NM_004752.3(GCM2): c.140G> T (p.Arg47Leu)single nucleotide variantPathogenicrs104893959GRCh37Chr 6, 10877576: 10877576
12GCM2NM_004752.3(GCM2): c.187G> A (p.Gly63Ser)single nucleotide variantPathogenicrs104893960GRCh37Chr 6, 10877529: 10877529
13GCM2GCM2, 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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Pathways related to Hypoparathyroidism, Familial Isolated according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3GNA11, PTH

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
1skeletal system developmentGO:00015019.3GNA11, PTH
2cellular calcium ion homeostasisGO:00068748.9GCM2, PTH

Sources for Hypoparathyroidism, Familial Isolated

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet