MCID: ATM068
MIFTS: 30

Autoimmune Hypoparathyroidism

Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Autoimmune Hypoparathyroidism

Summaries for Autoimmune Hypoparathyroidism

MalaCards based summary : Autoimmune Hypoparathyroidism is related to autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and hypoparathyroidism. An important gene associated with Autoimmune Hypoparathyroidism is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Proton Pump Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include bone, liver and endothelial, and related phenotypes are autoimmune hypoparathyroidism and hyperphosphatemia

Related Diseases for Autoimmune Hypoparathyroidism

Graphical network of the top 20 diseases related to Autoimmune Hypoparathyroidism:



Diseases related to Autoimmune Hypoparathyroidism

Symptoms & Phenotypes for Autoimmune Hypoparathyroidism

Human phenotypes related to Autoimmune Hypoparathyroidism:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hypoparathyroidism 60 33 obligate (100%) Obligate (100%) HP:0011771
2 hyperphosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002905
3 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
4 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
5 autoimmune antibody positivity 60 33 frequent (33%) Frequent (79-30%) HP:0030057
6 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
7 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
8 irritability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000737
9 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
10 prolonged qt interval 60 33 occasional (7.5%) Occasional (29-5%) HP:0001657
11 chest pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0100749
12 conjunctivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000509
13 increased bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0011001
14 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
15 myoclonic spasms 60 33 occasional (7.5%) Occasional (29-5%) HP:0003739
16 confusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0001289
17 chronic mucocutaneous candidiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002728
18 abdominal symptom 60 33 occasional (7.5%) Occasional (29-5%) HP:0011458
19 laryngeal dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012049
20 hypocalcemic tetany 60 33 occasional (7.5%) Occasional (29-5%) HP:0003472
21 calcium nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004724
22 muscle spasm 33 occasional (7.5%) HP:0003394
23 hypocalcemic seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0002199
24 ventricular arrhythmia 60 33 very rare (1%) Very rare (<4-1%) HP:0004308
25 left ventricular dysfunction 33 very rare (1%) HP:0005162
26 coronary artery atherosclerosis 33 very rare (1%) HP:0001677
27 autoimmunity 60 Occasional (29-5%)
28 muscle cramps 60 Occasional (29-5%)
29 hypocalcemia 60 Very frequent (99-80%)
30 coronary artery disease 60 Very rare (<4-1%)
31 left ventricular failure 60 Very rare (<4-1%)

GenomeRNAi Phenotypes related to Autoimmune Hypoparathyroidism according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after gemcitabine stimulation GR00107-A-2 8.62 PIK3C2A PRKAR1A

Drugs & Therapeutics for Autoimmune Hypoparathyroidism

Search Clinical Trials , NIH Clinical Center for Autoimmune Hypoparathyroidism

Genetic Tests for Autoimmune Hypoparathyroidism

Anatomical Context for Autoimmune Hypoparathyroidism

MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

42
Bone, Liver, Endothelial

Publications for Autoimmune Hypoparathyroidism

Articles related to Autoimmune Hypoparathyroidism:

(show all 14)
# Title Authors Year
1
Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor. ( 30358904 )
2018
2
Autoimmune hypoparathyroidism associated with pulmonary tuberculosis. ( 20605844 )
2011
3
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. ( 19328421 )
2009
4
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. ( 19626344 )
2009
5
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. ( 17289071 )
2007
6
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. ( 14764760 )
2004
7
Graves' disease coexisting with probable autoimmune hypoparathyroidism. ( 14520606 )
2003
8
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. ( 11571675 )
2001
9
A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure. ( 10460947 )
1999
10
[Serum striated muscle enzymes in autoimmune hypoparathyroidism]. ( 8253399 )
1993
11
Dental manifestations of autoimmune hypoparathyroidism. ( 8464608 )
1993
12
Autoimmune hypoparathyroidism and hyper-CK-emia. ( 2064002 )
1991
13
Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. ( 3287382 )
1988
14
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. ( 3534888 )
1986

Variations for Autoimmune Hypoparathyroidism

ClinVar genetic disease variations for Autoimmune Hypoparathyroidism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;X;t(X;12)(p11.2;q24.33)dn Translocation Likely pathogenic

Expression for Autoimmune Hypoparathyroidism

Search GEO for disease gene expression data for Autoimmune Hypoparathyroidism.

Pathways for Autoimmune Hypoparathyroidism

Pathways related to Autoimmune Hypoparathyroidism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.06 CASR PRKAR1A
2 10.29 CASR PIK3C2A

GO Terms for Autoimmune Hypoparathyroidism

Sources for Autoimmune Hypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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