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 depressivity and cataract

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
2 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
3 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
4 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
5 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
6 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
7 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
8 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
9 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
10 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
11 increased bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0011001
12 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
13 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
14 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
15 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
16 autoimmune antibody positivity 59 32 frequent (33%) Frequent (79-30%) HP:0030057
17 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
18 ventricular arrhythmia 59 32 very rare (1%) Very rare (<4-1%) HP:0004308
19 chronic mucocutaneous candidiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002728
20 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
21 left ventricular failure 59 32 very rare (1%) Very rare (<4-1%) HP:0005162
22 autoimmune hypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0011771
23 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
24 hypocalcemic tetany 59 32 occasional (7.5%) Occasional (29-5%) HP:0003472
25 calcium nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004724
26 autoimmunity 59 Occasional (29-5%)
27 hypocalcemia 59 Very frequent (99-80%)
28 coronary artery disease 59 Very rare (<4-1%)
29 coronary artery atherosclerosis 32 very rare (1%) HP:0001677

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

26
# 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:

41
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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