FIH2
MCID: HYP867
MIFTS: 15

Hypoparathyroidism, Familial Isolated, 2 (FIH2)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism, Familial Isolated, 2

MalaCards integrated aliases for Hypoparathyroidism, Familial Isolated, 2:

Name: Hypoparathyroidism, Familial Isolated, 2 56 29 6
Hypoparathyroidism, Familial Isolated 2 56
Fih2 56

Classifications:



External Ids:

OMIM 56 618883
OMIM Phenotypic Series 56 PS146200

Summaries for Hypoparathyroidism, Familial Isolated, 2

OMIM : 56 Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; 168450) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation (Ding et al., 2001). Some patients have been found to lack parathyroid glands (Thomee et al., 2005). For a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 (146200). (618883)

MalaCards based summary : Hypoparathyroidism, Familial Isolated, 2, is also known as hypoparathyroidism, familial isolated 2. An important gene associated with Hypoparathyroidism, Familial Isolated, 2 is GCM2 (Glial Cells Missing Transcription Factor 2).

Related Diseases for Hypoparathyroidism, Familial Isolated, 2

Symptoms & Phenotypes for Hypoparathyroidism, Familial Isolated, 2

Clinical features from OMIM:

618883

Drugs & Therapeutics for Hypoparathyroidism, Familial Isolated, 2

Search Clinical Trials , NIH Clinical Center for Hypoparathyroidism, Familial Isolated, 2

Genetic Tests for Hypoparathyroidism, Familial Isolated, 2

Genetic tests related to Hypoparathyroidism, Familial Isolated, 2:

# Genetic test Affiliating Genes
1 Hypoparathyroidism, Familial Isolated, 2 29 GCM2

Anatomical Context for Hypoparathyroidism, Familial Isolated, 2

Publications for Hypoparathyroidism, Familial Isolated, 2

Articles related to Hypoparathyroidism, Familial Isolated, 2:

# Title Authors PMID Year
1
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. 56 6
20190276 2010
2
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. 6 56
15863676 2005
3
GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. 6 56
15728199 2005
4
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. 56 6
11602629 2001
5
Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. 56
10910362 2000
6
Mechanism of mercury(II) reductase and influence of ligation on the reduction of mercury(II) by a water soluble 1,5-dihydroflavin. 61
2497462 1989

Variations for Hypoparathyroidism, Familial Isolated, 2

ClinVar genetic disease variations for Hypoparathyroidism, Familial Isolated, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GCM2 GCM2, EX1-4DELdeletion Pathogenic 6090
2 GCM2 NM_004752.4(GCM2):c.140G>T (p.Arg47Leu)SNV Pathogenic 6091 rs104893959 6:10877576-10877576 6:10877343-10877343
3 GCM2 NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)SNV Pathogenic 6092 rs104893960 6:10877529-10877529 6:10877296-10877296
4 GCM2 NM_004752.4(GCM2):c.893del (p.Ile298fs)deletion Pathogenic 64623 rs886037646 6:10874856-10874856 6:10874623-10874623

Expression for Hypoparathyroidism, Familial Isolated, 2

Search GEO for disease gene expression data for Hypoparathyroidism, Familial Isolated, 2.

Pathways for Hypoparathyroidism, Familial Isolated, 2

GO Terms for Hypoparathyroidism, Familial Isolated, 2

Sources for Hypoparathyroidism, Familial Isolated, 2

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