HYPOC2
MCID: HYP564
MIFTS: 22

Hypocalcemia, Autosomal Dominant 2 (HYPOC2)

Categories: Blood diseases, 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 58 76 30 6 74
Hypoc2 58 12 76
Hypocalcemia, Autosomal Dominant, Type 2 41
Autosomal Dominant Hypocalcemia 2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some patients have asymptomatic hypocalcemia


HPO:

33
hypocalcemia, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090108
OMIM 58 615361
MeSH 45 D006996
UMLS 74 C3809243

Summaries for Hypocalcemia, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 76 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 eye, and related phenotypes are postnatal growth retardation and basal ganglia calcification

Disease Ontology : 12 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.

Description from OMIM: 615361

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:

33
# Description HPO Frequency HPO Source Accession
1 postnatal growth retardation 33 occasional (7.5%) HP:0008897
2 basal ganglia calcification 33 occasional (7.5%) HP:0002135
3 paresthesia 33 HP:0003401
4 hypocalcemia 33 HP:0002901
5 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
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 30 GNA11

Anatomical Context for Hypocalcemia, Autosomal Dominant 2

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

42
Kidney, Eye

Publications for Hypocalcemia, Autosomal Dominant 2

Articles related to Hypocalcemia, Autosomal Dominant 2:

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

Variations for Hypocalcemia, Autosomal Dominant 2

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

76
# 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

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant 2:

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

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

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10 dbSNP
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17 EFO
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31 HGMD
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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