HYPOC2
MCID: HYP564
MIFTS: 22

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 74 29 6 72
Hypoc2 57 12 74
Hypocalcemia, Autosomal Dominant, Type 2 40
Autosomal Dominant Hypocalcemia 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients have asymptomatic hypocalcemia


HPO:

32
hypocalcemia, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090108
MeSH 44 D006996
UMLS 72 C3809243

Summaries for Hypocalcemia, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 74 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, is also known as hypoc2, 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). Affiliated tissues include kidney, and 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

Symptoms & Phenotypes for Hypocalcemia, Autosomal Dominant 2

Human phenotypes related to Hypocalcemia, Autosomal Dominant 2:

32
# Description HPO Frequency HPO Source Accession
1 postnatal growth retardation 32 occasional (7.5%) HP:0008897
2 basal ganglia calcification 32 occasional (7.5%) HP:0002135
3 paresthesia 32 HP:0003401
4 hypocalcemia 32 HP:0002901
5 muscle spasm 32 HP:0003394

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle cramps
carpopedal spasm

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)

Endocrine Features:
hypocalcemia
parathyroid hormone levels low to low-normal
serum phosphorus normal or mildly elevated

Growth Height:
postnatal growth failure (in some patients)

Clinical features from OMIM:

615361

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

MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant 2:

41
Kidney

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. 8 71
24823460 2014
2
Germline mutations affecting Gα11 in hypoparathyroidism. 8 71
23802536 2013
3
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 8 71
23802516 2013
4
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. 8 71
6278146 1981

Variations for Hypocalcemia, Autosomal Dominant 2

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNA11 NM_002067.5(GNA11): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs587777020 19:3115007-3115007 19:3115009-3115009
2 GNA11 NM_002067.5(GNA11): c.1023C> G (p.Phe341Leu) single nucleotide variant Pathogenic rs140749796 19:3121120-3121120 19:3121122-3121122
3 GNA11 NM_002067.5(GNA11): c.178C> T (p.Arg60Cys) single nucleotide variant Pathogenic rs587777021 19:3110188-3110188 19:3110190-3110190
4 GNA11 NM_002067.5(GNA11): c.632C> G (p.Ser211Trp) single nucleotide variant Pathogenic rs587777022 19:3118948-3118948 19:3118950-3118950
5 GNA11 NM_002067.5(GNA11): c.179G> T (p.Arg60Leu) single nucleotide variant Pathogenic rs587777707 19:3110189-3110189 19:3110191-3110191

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

74
# 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

GO Terms for Hypocalcemia, Autosomal Dominant 2

Sources for Hypocalcemia, Autosomal Dominant 2

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
Content
Loading form....