MCID: ATM068
MIFTS: 32

Autoimmune Hypoparathyroidism

Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Autoimmune Hypoparathyroidism

MalaCards integrated aliases for Autoimmune Hypoparathyroidism:

Name: Autoimmune Hypoparathyroidism 58 6 71

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Autoimmune Hypoparathyroidism

MalaCards based summary : Autoimmune Hypoparathyroidism is related to hypoparathyroidism and adenoma. 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. The drugs Parathyroid hormone and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and t cells, and related phenotypes are autoimmune hypoparathyroidism and hyperphosphatemia

Related Diseases for Autoimmune Hypoparathyroidism

Diseases in the Hypoparathyroidism family:

Rare Hypoparathyroidism Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion
Autoimmune Hypoparathyroidism

Diseases related to Autoimmune Hypoparathyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism 30.2 PRKAR1A CASR
2 adenoma 29.2 PRKAR1A CASR
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.7
4 autoimmune disease 10.0
5 graves' disease 10.0
6 osteoporosis 9.8
7 odontochondrodysplasia 9.8
8 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
9 hypoadrenocorticism, familial 9.8
10 cartilage-hair hypoplasia 9.8
11 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
12 mycobacterium tuberculosis 1 9.8
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
14 bone mineral density quantitative trait locus 8 9.8
15 bone mineral density quantitative trait locus 15 9.8
16 heart disease 9.8
17 diarrhea 9.8
18 candidiasis 9.8
19 long qt syndrome 9.8
20 pulmonary tuberculosis 9.8
21 kidney disease 9.8
22 cataract 9.8
23 hypopituitarism 9.8
24 alopecia 9.8
25 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 9.8
26 dwarfism 9.8
27 polyendocrinopathy 9.8
28 hypokalemia 9.7 PIK3C2A CASR
29 hyperparathyroidism, neonatal severe 9.7 PRKAR1A CASR
30 hyperparathyroidism 9.7 PRKAR1A CASR
31 idiopathic hypercalciuria 9.7 PRKAR1A CASR
32 hypocalcemia, autosomal dominant 1 9.6 PRKAR1A CASR
33 nephrocalcinosis 9.6 PIK3C2A CASR
34 parathyroid adenoma 9.6 PRKAR1A CASR
35 primary hyperparathyroidism 9.6 PRKAR1A CASR
36 ischemia 9.5 PIK3C2A CASR
37 multiple endocrine neoplasia, type i 9.5 PRKAR1A CASR
38 digeorge syndrome 9.5 RMRP CASR

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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hypoparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0011771
2 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
3 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
4 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
5 autoimmune antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0030057
6 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
7 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
8 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
9 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
10 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
11 prolonged qt interval 58 31 occasional (7.5%) Occasional (29-5%) HP:0001657
12 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
13 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
14 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
15 increased bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0011001
16 chronic mucocutaneous candidiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002728
17 myoclonic spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0003739
18 abdominal symptom 58 31 occasional (7.5%) Occasional (29-5%) HP:0011458
19 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
20 hypocalcemic tetany 58 31 occasional (7.5%) Occasional (29-5%) HP:0003472
21 calcium nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004724
22 muscle spasm 31 occasional (7.5%) HP:0003394
23 coronary artery atherosclerosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001677
24 hypocalcemic seizures 58 31 very rare (1%) Very rare (<4-1%) HP:0002199
25 ventricular arrhythmia 58 31 very rare (1%) Very rare (<4-1%) HP:0004308
26 left ventricular dysfunction 58 31 very rare (1%) Very rare (<4-1%) HP:0005162
27 autoimmunity 58 Occasional (29-5%)
28 hypocalcemia 58 Very frequent (99-80%)
29 muscle cramps 58 Occasional (29-5%)

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

Drugs for Autoimmune Hypoparathyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational 9002-64-6
2
Calcium Approved, Nutraceutical 7440-70-2 271
3
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
4 Hormones
5 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of iMmune Function in Post-surgical and AuToimmune HYpoparathyroidism: The EMPATHY Study Recruiting NCT04059380

Search NIH Clinical Center for Autoimmune Hypoparathyroidism

Genetic Tests for Autoimmune Hypoparathyroidism

Anatomical Context for Autoimmune Hypoparathyroidism

MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

40
Bone, Heart, T Cells, Liver, Thyroid, Endothelial, Kidney

Publications for Autoimmune Hypoparathyroidism

Articles related to Autoimmune Hypoparathyroidism:

(show all 32)
# Title Authors PMID Year
1
Skeletal Manifestations of Autoimmune Hypoparathyroidism. 61
31977660 2020
2
Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies. 61
30252069 2019
3
Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor. 61
30358904 2019
4
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. 61
29437776 2018
5
[Hypo and hypercalcemia: from diagnosis to treatment]. 61
28981237 2016
6
Polyglandular autoimmune syndrome type I. 61
23182677 2012
7
Autoimmune hypoparathyroidism associated with pulmonary tuberculosis. 61
20605844 2011
8
Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). 61
20304522 2010
9
[Neurological disorders in patients with hypoparathyroidism]. 61
21442967 2010
10
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 61
19626344 2009
11
[Associations of autoimmune disorders in endocrine diseases]. 61
19648077 2009
12
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. 61
19328421 2009
13
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 61
17289071 2007
14
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. 61
17911431 2007
15
[AIRE gene mutation in polyglandular syndrome type 1]. 61
16792967 2006
16
Hypomagnesaemia masquerading as hypoparathyroidism. 61
16909743 2006
17
Celiac disease occurring in a patient with hypoparathyroidism and autoimmune thyroid disease. 61
16553106 2006
18
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. 61
14764760 2004
19
Graves' disease coexisting with probable autoimmune hypoparathyroidism. 61
14520606 2003
20
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. 61
11571675 2001
21
[Autoimmune hypoparathyroidism]. 61
11269028 2000
22
A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure. 61
10460947 1999
23
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. 61
9837820 1998
24
[Hypocalcemia as a rare cause of acute left heart failure. Case report and review of the literature]. 61
9446206 1997
25
Enamel hypoplasia secondary to candidiasis endocrinopathy syndrome: case report. 61
7617499 1995
26
[Serum striated muscle enzymes in autoimmune hypoparathyroidism]. 61
8253399 1993
27
Dental manifestations of autoimmune hypoparathyroidism. 61
8464608 1993
28
Autoimmune hypoparathyroidism and hyper-CK-emia. 61
2064002 1991
29
Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. 61
3287382 1988
30
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. 61
3534888 1986
31
Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells. 61
3332555 1986
32
Receptors, antibodies, and disease. 61
6329552 1984

Variations for Autoimmune Hypoparathyroidism

ClinVar genetic disease variations for Autoimmune Hypoparathyroidism:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;X;t(X;12)(p11.2;q24.33)dnTranslocation Likely pathogenic 267860

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 PRKAR1A CASR
2 10.29 PIK3C2A CASR

GO Terms for Autoimmune Hypoparathyroidism

Sources for Autoimmune Hypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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