MCID: ATM068
MIFTS: 30

Autoimmune Hypoparathyroidism

Categories: 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 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity, and has symptoms including hyperphosphatemia, cataract and paresthesia. 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, endothelial and liver, and related phenotype is Decreased viability after gemcitabine stimulation.

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:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hypoparathyroidism 55 31 obligate (100%) Obligate (100%) HP:0011771
2 hyperphosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002905
3 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
4 paresthesia 55 31 frequent (33%) Frequent (79-30%) HP:0003401
5 autoimmune antibody positivity 55 31 frequent (33%) Frequent (79-30%) HP:0030057
6 conjunctivitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000509
7 irritability 55 31 occasional (7.5%) Occasional (29-5%) HP:0000737
8 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
9 hyporeflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001265
10 confusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0001289
11 prolonged qt interval 55 31 occasional (7.5%) Occasional (29-5%) HP:0001657
12 dyspnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002094
13 chronic mucocutaneous candidiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002728
14 muscle cramps 55 31 occasional (7.5%) Occasional (29-5%) HP:0003394
15 hypocalcemic tetany 55 31 occasional (7.5%) Occasional (29-5%) HP:0003472
16 myoclonic spasms 55 31 occasional (7.5%) Occasional (29-5%) HP:0003739
17 calcium nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004724
18 increased bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0011001
19 abdominal symptom 55 31 occasional (7.5%) Occasional (29-5%) HP:0011458
20 laryngeal dystonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0012049
21 chest pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0100749
22 hypocalcemic seizures 55 31 very rare (1%) Very rare (<4-1%) HP:0002199
23 ventricular arrhythmia 55 31 very rare (1%) Very rare (<4-1%) HP:0004308
24 left ventricular failure 55 31 very rare (1%) Very rare (<4-1%) HP:0005162
25 hypocalcemia 55 Very frequent (99-80%)
26 depression 55 Occasional (29-5%)
27 autoimmunity 55 Occasional (29-5%)
28 coronary artery disease 55 Very rare (<4-1%)
29 depressivity 31 occasional (7.5%) HP:0000716
30 coronary artery atherosclerosis 31 very rare (1%) HP:0001677

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

25
# 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:

38
Bone, Endothelial, Liver

Publications for Autoimmune Hypoparathyroidism

Articles related to Autoimmune Hypoparathyroidism:

(show all 13)
# Title Authors Year
1
Autoimmune hypoparathyroidism associated with pulmonary tuberculosis. ( 20605844 )
2011
2
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. ( 19328421 )
2009
3
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. ( 19626344 )
2009
4
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. ( 17289071 )
2007
5
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. ( 14764760 )
2004
6
Graves' disease coexisting with probable autoimmune hypoparathyroidism. ( 14520606 )
2003
7
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. ( 11571675 )
2001
8
A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure. ( 10460947 )
1999
9
Dental manifestations of autoimmune hypoparathyroidism. ( 8464608 )
1993
10
[Serum striated muscle enzymes in autoimmune hypoparathyroidism]. ( 8253399 )
1993
11
Autoimmune hypoparathyroidism and hyper-CK-emia. ( 2064002 )
1991
12
Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. ( 3287382 )
1988
13
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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