Hypoparathyroidism, Familial Isolated malady

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

Aliases & Classifications for Hypoparathyroidism, Familial Isolated

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46OMIM, 42NIH Rare Diseases, 61UMLS, 20GeneTests, 48Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet
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Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

Name: Hypoparathyroidism, Familial Isolated 46
Familial Isolated Hypoparathyroidism 42 20 48
Hypoparathyroidism Familial Isolated 42 61
Hypoparathyroidism, Autosomal Recessive 46
Hypoparathyroidism, Autosomal Dominant 46


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:

OMIM46 146200
Orphanet48 2238
ICD10 via Orphanet26 E20.8
UMLS via Orphanet62 C1832648
MESH via Orphanet34 C537156

Summaries for Hypoparathyroidism, Familial Isolated

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OMIM:46 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 hypoparathyroidism 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 are Development Hedgehog and PTH signaling pathways in bone and cartilage development and ADP signalling through P2Y purinoceptor 12. The compounds pamidronate and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include thymus and eye, and related mouse phenotypes are pigmentation and craniofacial.

Related Diseases for Hypoparathyroidism, Familial Isolated

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Diseases in the Hypoparathyroidism, Familial Isolated family:

Gcm2-Related Familial Isolated Hypoparathyroidism Casr-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 33)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.2PTH, CASR, GCM2
2casr-associated familial isolated hypoparathyroidism10.4
3gcm2-related familial isolated hypoparathyroidism10.4
4casr-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
8pseudohypoparathyroidism10.1GNA11, PTH
9cholera10.0PTH, GNA11
10hypercalcemia10.0PTH, CASR
11parathyroid gland disease10.0PTH, CASR
12parathyroid carcinoma10.0CASR, PTH
13rickets10.0CASR, PTH
14osteitis fibrosa10.0PTH, CASR
15renal osteodystrophy10.0CASR, PTH
16calcinosis10.0CASR, PTH
17hyperphosphatemia10.0CASR, PTH
18parathyroid adenoma10.0CASR, PTH
19secondary hyperparathyroidism of renal origin10.0CASR, PTH
20osteomalacia10.0CASR, PTH
21multiple endocrine neoplasia 19.9PTH, CASR
22nephrolithiasis9.9CASR, PTH
23hyperparathyroidism9.9PTH, CASR
24uremia9.9PTH, CASR
25secondary syphilis9.9CASR, PTH
26hypothyroidism9.9CASR, PTH
27chronic kidney failure9.8PTH, CASR
28diabetes mellitus, insulin-dependent9.8PTH, CASR
29osteosarcoma, somatic9.8PTH, CASR
30primary hyperparathyroidism9.8CASR, GCM2, PTH
31osteoporosis9.8GCM2, CASR, PTH
32primary hyperoxaluria9.7PTH, CASR
33adenoma9.7PTH, CASR, GCM2

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:



 48 (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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Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism, Familial Isolated

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 Hypoparathyroidism20 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:00011869.1CASR, GNA11
2MP:00053828.9GNA11, PTH, GCM2
3MP:00053958.8CASR, GNA11
4MP:00053678.5GCM2, CASR, GNA11
5MP:00053798.2GCM2, CASR, PTH, GNA11
6MP:00053908.1GNA11, PTH, CASR, GCM2
7MP:00053768.1GCM2, CASR, PTH, GNA11
8MP:00107687.9GNA11, PTH, CASR, GCM2

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 31)
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
4CASRNM_000388.3(CASR): c.1934C> A (p.Ala645Asp)single nucleotide variantLikely pathogenicrs193922430GRCh37Chr 3, 122002735: 122002735
5GNA11NM_002067.4(GNA11): c.542G> A (p.Arg181Gln)single nucleotide variantPathogenicGRCh37Chr 19, 3115007: 3115007
6GNA11NM_002067.4(GNA11): c.1023C> G (p.Phe341Leu)single nucleotide variantPathogenicrs140749796GRCh38Chr 19, 3121122: 3121122
7GNA11NM_002067.4(GNA11): c.178C> T (p.Arg60Cys)single nucleotide variantPathogenicGRCh37Chr 19, 3110188: 3110188
8GNA11NM_002067.4(GNA11): c.632C> G (p.Ser211Trp)single nucleotide variantPathogenicGRCh37Chr 19, 3118948: 3118948
9CASRNM_000388.3(CASR): c.662C> T (p.Pro221Leu)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
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
13CASRNM_000388.3(CASR): c.380A> C (p.Glu127Ala)single nucleotide variantPathogenicrs121909260GRCh37Chr 3, 121976122: 121976122
14CASRNM_000388.3(CASR): c.2043G> T (p.Gln681His)single nucleotide variantPathogenicrs121909261GRCh37Chr 3, 122002844: 122002844
15CASRNM_000388.3(CASR): c.346G> A (p.Ala116Thr)single nucleotide variantPathogenicrs104893691GRCh37Chr 3, 121976088: 121976088
16CASRNM_000388.3(CASR): c.2417T> C (p.Phe806Ser)single nucleotide variantPathogenicrs104893693GRCh37Chr 3, 122003218: 122003218
17CASRNM_000388.3(CASR): c.452C> T (p.Thr151Met)single nucleotide variantPathogenicrs104893694GRCh37Chr 3, 121976194: 121976194
18CASRNM_000388.3(CASR): c.354C> A (p.Asn118Lys)single nucleotide variantPathogenicrs104893695GRCh37Chr 3, 121976096: 121976096
19CASRNM_000388.3(CASR): c.382T> C (p.Phe128Leu)single nucleotide variantPathogenicrs104893696GRCh37Chr 3, 121976124: 121976124
20CASRNM_000388.3(CASR): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs104893697GRCh37Chr 3, 121980453: 121980453
21CASRNM_000388.3(CASR): c.1835T> C (p.Phe612Ser)single nucleotide variantPathogenicrs104893698GRCh37Chr 3, 122002636: 122002636
22CASRNM_000388.3(CASR): c.2318T> G (p.Leu773Arg)single nucleotide variantPathogenicrs104893699GRCh37Chr 3, 122003119: 122003119
23CASRNM_000388.3(CASR): c.2363T> G (p.Phe788Cys)single nucleotide variantPathogenicrs104893701GRCh37Chr 3, 122003164: 122003164
24CASRNM_000388.3(CASR): c.141A> C (p.Lys47Asn)single nucleotide variantPathogenicrs104893702GRCh37Chr 3, 121973177: 121973177
25CASRNM_000388.3(CASR): c.1846C> G (p.Leu616Val)single nucleotide variantPathogenicrs104893703GRCh37Chr 3, 122002647: 122002647
26CASRCASR, 543-BP DEL, NT2682deletionPathogenic
27CASRNM_000388.3(CASR): c.374T> C (p.Leu125Pro)single nucleotide variantPathogenicrs104893708GRCh37Chr 3, 121976116: 121976116
28CASRNM_000388.3(CASR): c.2459C> T (p.Ser820Phe)single nucleotide variantPathogenicrs104893710GRCh37Chr 3, 122003260: 122003260
29CASRNM_000388.3(CASR): c.2362T> C (p.Phe788Leu)single nucleotide variantPathogenicrs104893711GRCh37Chr 3, 122003163: 122003163
30CASRNM_000388.3(CASR): c.1810G> A (p.Glu604Lys)single nucleotide variantPathogenicrs104893712GRCh37Chr 3, 122002611: 122002611
31CASRNM_000388.3(CASR): c.2180T> A (p.Leu727Gln)single nucleotide variantPathogenicrs104893718GRCh37Chr 3, 122002981: 122002981

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
19.4PTH, GNA11
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9.4PTH, GNA11
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9.1CASR, GNA11
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Compounds for genes affiliated with Hypoparathyroidism, Familial Isolated

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

idCompoundScoreTop Affiliating Genes
1pamidronate44 50 1111.4CASR, PTH
225-hydroxyvitamin d449.3CASR, PTH
3phosphorus449.3PTH, CASR
41,25 dihydroxy vitamin d3449.3CASR, PTH
5inositol 1,4,5 trisphosphate449.2CASR, PTH
6calcitriol44 60 24 1112.2PTH, CASR
7ribonucleic acid449.1CASR, PTH
8forskolin44 50 1111.1CASR, PTH
9vitamin d449.0CASR, PTH
10potassium44 24 1110.8CASR, 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
1G-protein coupled receptor signaling pathwayGO:00071869.1CASR, PTH
2skeletal system developmentGO:00015019.1PTH, GNA11
3cellular calcium ion homeostasisGO:00068748.4GCM2, CASR, PTH

Sources for Hypoparathyroidism, Familial Isolated

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet