MCID: ATM068
MIFTS: 30

Autoimmune Hypoparathyroidism malady

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Autoimmune Hypoparathyroidism

Aliases & Descriptions for Autoimmune Hypoparathyroidism:

Name: Autoimmune Hypoparathyroidism 56 69

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA36913
ICD10 via Orphanet 34 E20.8
UMLS via Orphanet 70 C0271865

Summaries for Autoimmune Hypoparathyroidism

MalaCards based summary : Autoimmune Hypoparathyroidism is related to autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia and hypoparathyroidism, 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. The drugs Amiloride and Hydrochlorothiazide have been mentioned in the context of this disorder. 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:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hypoparathyroidism 56 32 Obligate (100%) HP:0011771
2 hyperphosphatemia 56 32 Very frequent (99-80%) HP:0002905
3 cataract 56 32 Frequent (79-30%) HP:0000518
4 paresthesia 56 32 Frequent (79-30%) HP:0003401
5 autoimmune antibody positivity 56 32 Frequent (79-30%) HP:0030057
6 conjunctivitis 56 32 Occasional (29-5%) HP:0000509
7 depression 56 32 Occasional (29-5%) HP:0000716
8 irritability 56 32 Occasional (29-5%) HP:0000737
9 anxiety 56 32 Occasional (29-5%) HP:0000739
10 hyporeflexia 56 32 Occasional (29-5%) HP:0001265
11 confusion 56 32 Occasional (29-5%) HP:0001289
12 prolonged qt interval 56 32 Occasional (29-5%) HP:0001657
13 dyspnea 56 32 Occasional (29-5%) HP:0002094
14 chronic mucocutaneous candidiasis 56 32 Occasional (29-5%) HP:0002728
15 muscle cramps 56 32 Occasional (29-5%) HP:0003394
16 hypocalcemic tetany 56 32 Occasional (29-5%) HP:0003472
17 myoclonic spasms 56 32 Occasional (29-5%) HP:0003739
18 calcium nephrolithiasis 56 32 Occasional (29-5%) HP:0004724
19 increased bone mineral density 56 32 Occasional (29-5%) HP:0011001
20 abdominal symptom 56 32 Occasional (29-5%) HP:0011458
21 laryngeal dystonia 56 32 Occasional (29-5%) HP:0012049
22 chest pain 56 32 Occasional (29-5%) HP:0100749
23 coronary artery disease 56 32 Very rare (<4-1%) HP:0001677
24 hypocalcemic seizures 56 32 Very rare (<4-1%) HP:0002199
25 ventricular arrhythmia 56 32 Very rare (<4-1%) HP:0004308
26 left ventricular failure 56 32 Very rare (<4-1%) HP:0005162
27 hypocalcemia 56 Very frequent (99-80%)
28 autoimmunity 56 Occasional (29-5%)

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

26
id 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):

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
2
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
3
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
Melphalan Approved Phase 2 148-82-3 4053 460612
7
Thiotepa Approved Phase 2 52-24-4 5453
8
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
9 Antihypertensive Agents Phase 2
10 Bone Density Conservation Agents Phase 2
11 Calcium, Dietary Phase 2
12 diuretics Phase 2
13 Diuretics, Potassium Sparing Phase 2
14 Hydroxycholecalciferols Phase 2
15 Micronutrients Phase 2
16 Natriuretic Agents Phase 2
17 Sodium Channel Blockers Phase 2
18 Sodium Chloride Symporter Inhibitors Phase 2
19 Trace Elements Phase 2
20 Vitamins Phase 2
21 Alkylating Agents Phase 2
22 Antimetabolites Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Immunosuppressive Agents Phase 2
26 Anesthetics Phase 2,Phase 1
27
Cyclosporine Approved, Investigational, Vet_approved Phase 1 79217-60-0, 59865-13-3 5284373 6435893
28
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
30 Antilymphocyte Serum Phase 1
31 Methylprednisolone acetate Phase 1
32 Methylprednisolone Hemisuccinate Phase 1
33 Prednisolone acetate Phase 1
34 Prednisolone hemisuccinate Phase 1
35 Prednisolone phosphate Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Autosomal Dominant Hypocalcemia Recruiting NCT02824718 Phase 2
2 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
3 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
4 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1

Search NIH Clinical Center for Autoimmune Hypoparathyroidism

Genetic Tests for Autoimmune Hypoparathyroidism

Anatomical Context for Autoimmune Hypoparathyroidism

MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

39
Bone, Endothelial, Liver

Publications for Autoimmune Hypoparathyroidism

Articles related to Autoimmune Hypoparathyroidism:

(show all 13)
id 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
id 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:

id Super pathways Score Top Affiliating Genes
1 11.05 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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