HYPOC2
MCID: HYP564
MIFTS: 32

Hypocalcemia, Autosomal Dominant 2 (HYPOC2)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypocalcemia, Autosomal Dominant 2

MalaCards integrated aliases for Hypocalcemia, Autosomal Dominant 2:

Name: Hypocalcemia, Autosomal Dominant 2 57 72 29 6 70
Hypoc2 57 12 72
Autosomal Dominant Hypocalcemia 2 12 15
Hypocalcemia, Autosomal Dominant, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some patients have asymptomatic hypocalcemia


HPO:

31
hypocalcemia, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090108
OMIM® 57 615361
OMIM Phenotypic Series 57 PS601198
MeSH 44 D006996
UMLS 70 C3809243

Summaries for Hypocalcemia, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 72 Hypocalcemia, autosomal dominant 2: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications.

MalaCards based summary : Hypocalcemia, Autosomal Dominant 2, also known as hypoc2, is related to hypocalciuric hypercalcemia, familial, type ii and charcot-marie-tooth disease, dominant intermediate f, and has symptoms including muscle cramp and carpopedal spasm. An important gene associated with Hypocalcemia, Autosomal Dominant 2 is GNA11 (G Protein Subunit Alpha 11), and among its related pathways/superpathways are Phospholipase-C Pathway and ADP signalling through P2Y purinoceptor 1. Related phenotypes are postnatal growth retardation and basal ganglia calcification

Disease Ontology : 12 An autosomal dominant hypocalcemia that has material basis in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.

More information from OMIM: 615361 PS601198

Related Diseases for Hypocalcemia, Autosomal Dominant 2

Diseases in the Hypocalcemia, Autosomal Dominant 1 family:

Hypocalcemia, Autosomal Dominant 2

Diseases related to Hypocalcemia, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type ii 10.0 GNA15 GNA11
2 charcot-marie-tooth disease, dominant intermediate f 10.0 GNA15 GNA11
3 pseudopseudohypoparathyroidism 10.0 GNA15 GNA11
4 night blindness, congenital stationary, type 2a 9.9 GNA15 GNA11
5 pseudohypoparathyroidism, type ia 9.9 GNA15 GNA11
6 sturge-weber syndrome 9.9 GNA15 GNA11
7 osseous heteroplasia, progressive 9.9 GNA15 GNA11
8 precocious puberty, male-limited 9.8 GNA15 GNA11
9 metal metabolism disorder 9.7 GNA15 GNA11

Graphical network of the top 20 diseases related to Hypocalcemia, Autosomal Dominant 2:



Diseases related to Hypocalcemia, Autosomal Dominant 2

Symptoms & Phenotypes for Hypocalcemia, Autosomal Dominant 2

Human phenotypes related to Hypocalcemia, Autosomal Dominant 2:

31
# Description HPO Frequency HPO Source Accession
1 postnatal growth retardation 31 occasional (7.5%) HP:0008897
2 basal ganglia calcification 31 occasional (7.5%) HP:0002135
3 paresthesia 31 HP:0003401
4 hypocalcemia 31 HP:0002901
5 muscle spasm 31 HP:0003394

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypocalcemia
parathyroid hormone levels low to low-normal
serum phosphorus normal or mildly elevated

Neurologic Central Nervous System:
paresthesias
basal ganglia calcifications (in some patients)
tetany, hypocalcemic (in some patients)

Neurologic Peripheral Nervous System:
tetany, hypocalcemic (in some patients)

Muscle Soft Tissue:
carpopedal spasm
muscle cramps

Growth Height:
postnatal growth failure (in some patients)

Clinical features from OMIM®:

615361 (Updated 05-Apr-2021)

UMLS symptoms related to Hypocalcemia, Autosomal Dominant 2:


muscle cramp; carpopedal spasm

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Hypocalcemia, Autosomal Dominant 2

Genetic Tests for Hypocalcemia, Autosomal Dominant 2

Genetic tests related to Hypocalcemia, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Hypocalcemia, Autosomal Dominant 2 29 GNA11

Anatomical Context for Hypocalcemia, Autosomal Dominant 2

Publications for Hypocalcemia, Autosomal Dominant 2

Articles related to Hypocalcemia, Autosomal Dominant 2:

# Title Authors PMID Year
1
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. 6 57
24823460 2014
2
Germline mutations affecting Gα11 in hypoparathyroidism. 6 57
23802536 2013
3
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. 57 6
6278146 1981
4
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 57
23802516 2013

Variations for Hypocalcemia, Autosomal Dominant 2

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNA11 NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) SNV Pathogenic 60663 rs587777020 GRCh37: 19:3115007-3115007
GRCh38: 19:3115009-3115009
2 GNA11 NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) SNV Pathogenic 60664 rs140749796 GRCh37: 19:3121120-3121120
GRCh38: 19:3121122-3121122
3 GNA11 NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) SNV Pathogenic 60665 rs587777021 GRCh37: 19:3110188-3110188
GRCh38: 19:3110190-3110190
4 GNA11 NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) SNV Pathogenic 60666 rs587777022 GRCh37: 19:3118948-3118948
GRCh38: 19:3118950-3118950
5 GNA11 NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) SNV Pathogenic 155926 rs587777707 GRCh37: 19:3110189-3110189
GRCh38: 19:3110191-3110191
6 GNA11 NM_002067.5(GNA11):c.476+1G>C SNV Pathogenic 997499 GRCh37: 19:3113483-3113483
GRCh38: 19:3113485-3113485
7 GNA11 NM_002067.5(GNA11):c.606-2A>C SNV Pathogenic 997532 GRCh37: 19:3118920-3118920
GRCh38: 19:3118922-3118922

UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant 2:

72
# Symbol AA change Variation ID SNP ID
1 GNA11 p.Arg60Cys VAR_070165 rs587777021
2 GNA11 p.Arg181Gln VAR_070167 rs587777020
3 GNA11 p.Ser211Trp VAR_070169 rs587777022
4 GNA11 p.Phe341Leu VAR_070170 rs140749796

Expression for Hypocalcemia, Autosomal Dominant 2

Search GEO for disease gene expression data for Hypocalcemia, Autosomal Dominant 2.

Pathways for Hypocalcemia, Autosomal Dominant 2

Pathways related to Hypocalcemia, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 PLCH2 GNA15 GNA11
2
Show member pathways
11.7 GNA15 GNA11
3
Show member pathways
11.54 GNA15 GNA11
4
Show member pathways
11.46 GNA15 GNA11
5 11.41 GNA15 GNA11
6 11.38 GNA15 GNA11
7 11.13 GNA15 GNA11
8 10.96 GNA15 GNA11
9 10.84 GNA15 GNA11
10 10.49 GNA15 GNA11
11
Show member pathways
9.83 GNA15 GNA11

GO Terms for Hypocalcemia, Autosomal Dominant 2

Cellular components related to Hypocalcemia, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNA15 GNA11

Biological processes related to Hypocalcemia, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.26 GNA15 GNA11
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.16 GNA15 GNA11
3 action potential GO:0001508 8.96 GNA15 GNA11
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 8.62 GNA15 GNA11

Molecular functions related to Hypocalcemia, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.26 GNA15 GNA11
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNA15 GNA11
3 guanyl nucleotide binding GO:0019001 8.96 GNA15 GNA11
4 type 2A serotonin receptor binding GO:0031826 8.62 GNA15 GNA11

Sources for Hypocalcemia, Autosomal Dominant 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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