MCID: ATM068
MIFTS: 29

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 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, endothelial and liver, 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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0011771
2 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
5 autoimmune antibody positivity 59 32 frequent (33%) Frequent (79-30%) HP:0030057
6 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
7 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
8 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
9 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
10 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
11 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
12 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
13 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
14 chronic mucocutaneous candidiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002728
15 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
16 hypocalcemic tetany 59 32 occasional (7.5%) Occasional (29-5%) HP:0003472
17 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
18 calcium nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004724
19 increased bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0011001
20 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
21 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
22 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
23 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
24 ventricular arrhythmia 59 32 very rare (1%) Very rare (<4-1%) HP:0004308
25 left ventricular failure 59 32 very rare (1%) Very rare (<4-1%) HP:0005162
26 hypocalcemia 59 Very frequent (99-80%)
27 autoimmunity 59 Occasional (29-5%)
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, 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
[Serum striated muscle enzymes in autoimmune hypoparathyroidism]. ( 8253399 )
1993
10
Dental manifestations of autoimmune hypoparathyroidism. ( 8464608 )
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
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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