MCID: ATM068
MIFTS: 31

Autoimmune Hypoparathyroidism

Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Autoimmune Hypoparathyroidism

MalaCards integrated aliases for Autoimmune Hypoparathyroidism:

Name: Autoimmune Hypoparathyroidism 59 6 72

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E20.8
UMLS via Orphanet 73 C0271865
Orphanet 59 ORPHA36913
UMLS 72 C0271865

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. The drugs Parathyroid hormone and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and heart, 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 34)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.7
2 hypoparathyroidism 10.4
3 autoimmune disease 10.0
4 graves' disease 10.0
5 osteoporosis 9.8
6 odontochondrodysplasia 9.8
7 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
8 hypoadrenocorticism, familial 9.8
9 cartilage-hair hypoplasia 9.8
10 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
11 mycobacterium tuberculosis 1 9.8
12 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
13 bone mineral density quantitative trait locus 8 9.8
14 bone mineral density quantitative trait locus 15 9.8
15 heart disease 9.8
16 diarrhea 9.8
17 candidiasis 9.8
18 long qt syndrome 9.8
19 pulmonary tuberculosis 9.8
20 kidney disease 9.8
21 adenoma 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 hyperparathyroidism, neonatal severe 9.6 PRKAR1A CASR
29 hyperparathyroidism 9.6 PRKAR1A CASR
30 hypercalcemia, infantile, 1 9.6 PRKAR1A CASR
31 idiopathic hypercalciuria 9.5 PRKAR1A CASR
32 hypocalcemia, autosomal dominant 1 9.5 PRKAR1A CASR
33 multiple endocrine neoplasia, type i 9.4 PRKAR1A CASR
34 primary hyperparathyroidism 9.2 PRKAR1A 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:

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 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
7 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
8 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
9 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
10 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
11 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
12 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
13 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
14 increased bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0011001
15 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
16 chronic mucocutaneous candidiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002728
17 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
18 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
19 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
20 hypocalcemic tetany 59 32 occasional (7.5%) Occasional (29-5%) HP:0003472
21 calcium nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004724
22 muscle spasm 32 occasional (7.5%) HP:0003394
23 coronary artery atherosclerosis 59 32 very rare (1%) Very rare (<4-1%) HP:0001677
24 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
25 ventricular arrhythmia 59 32 very rare (1%) Very rare (<4-1%) HP:0004308
26 left ventricular dysfunction 59 32 very rare (1%) Very rare (<4-1%) HP:0005162
27 autoimmunity 59 Occasional (29-5%)
28 muscle cramps 59 Occasional (29-5%)
29 hypocalcemia 59 Very frequent (99-80%)

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 5280453 134070
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:

41
Bone, Liver, Heart, Thyroid, Endothelial

Publications for Autoimmune Hypoparathyroidism

Articles related to Autoimmune Hypoparathyroidism:

(show all 31)
# Title Authors PMID Year
1
Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies. 38
30252069 2019
2
Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor. 38
30358904 2019
3
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. 38
29437776 2018
4
[Hypo and hypercalcemia: from diagnosis to treatment]. 38
28981237 2016
5
Polyglandular autoimmune syndrome type I. 38
23182677 2012
6
Autoimmune hypoparathyroidism associated with pulmonary tuberculosis. 38
20605844 2011
7
Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). 38
20304522 2010
8
[Neurological disorders in patients with hypoparathyroidism]. 38
21442967 2010
9
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 38
19626344 2009
10
[Associations of autoimmune disorders in endocrine diseases]. 38
19648077 2009
11
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. 38
19328421 2009
12
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 38
17289071 2007
13
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. 38
17911431 2007
14
[AIRE gene mutation in polyglandular syndrome type 1]. 38
16792967 2006
15
Hypomagnesaemia masquerading as hypoparathyroidism. 38
16909743 2006
16
Celiac disease occurring in a patient with hypoparathyroidism and autoimmune thyroid disease. 38
16553106 2006
17
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. 38
14764760 2004
18
Graves' disease coexisting with probable autoimmune hypoparathyroidism. 38
14520606 2003
19
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. 38
11571675 2001
20
[Autoimmune hypoparathyroidism]. 38
11269028 2000
21
A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure. 38
10460947 1999
22
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. 38
9837820 1998
23
[Hypocalcemia as a rare cause of acute left heart failure. Case report and review of the literature]. 38
9446206 1997
24
Enamel hypoplasia secondary to candidiasis endocrinopathy syndrome: case report. 38
7617499 1995
25
[Serum striated muscle enzymes in autoimmune hypoparathyroidism]. 38
8253399 1993
26
Dental manifestations of autoimmune hypoparathyroidism. 38
8464608 1993
27
Autoimmune hypoparathyroidism and hyper-CK-emia. 38
2064002 1991
28
Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. 38
3287382 1988
29
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. 38
3534888 1986
30
Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells. 38
3332555 1986
31
Receptors, antibodies, and disease. 38
6329552 1984

Variations for Autoimmune Hypoparathyroidism

ClinVar genetic disease variations for Autoimmune Hypoparathyroidism:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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