FIH
MCID: HYP599
MIFTS: 34

Hypoparathyroidism, Familial Isolated (FIH) malady

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

Aliases & Classifications for Hypoparathyroidism, Familial Isolated

Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:

Name: Hypoparathyroidism, Familial Isolated 54 66
Familial Isolated Hypoparathyroidism 24 56 29
Hypoparathyroidism, Autosomal Recessive 54 69
Autosomal Recessive Hypoparathyroidism 66 29
Hypoparathyroidism Familial Isolated 50 69
Fih 24 66
Familial Isolated Hypoparathyroidism Due to Impaired Pth Secretion 56
Hypoparathyroidism - Autosomal Dominant 69
Hypoparathyroidism, Autosomal Dominant 54
Autosomal Dominant Hypoparathyroidism 66

Characteristics:

Orphanet epidemiological data:

56
familial isolated hypoparathyroidism due to impaired pth secretion
Inheritance: Autosomal dominant,Autosomal recessive;
familial isolated hypoparathyroidism
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

HPO:

32
hypoparathyroidism, familial isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 146200
ICD10 via Orphanet 34 E20.8
MESH via Orphanet 43 C537156
UMLS via Orphanet 70 C1832648
MedGen 40 C1840334
MeSH 42 D007011

Summaries for Hypoparathyroidism, Familial Isolated

OMIM : 54 Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that... (146200) more...

MalaCards based summary : Hypoparathyroidism, Familial Isolated, also known as familial isolated hypoparathyroidism, is related to gcm2-related familial isolated hypoparathyroidism and pth-related familial isolated hypoparathyroidism, and has symptoms including seizures, cerebral calcification and cataract. An important gene associated with Hypoparathyroidism, Familial Isolated is PTH (Parathyroid Hormone). Affiliated tissues include thymus and eye, and related phenotype is craniofacial.

UniProtKB/Swiss-Prot : 66 Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.

Related Diseases for Hypoparathyroidism, Familial Isolated

Graphical network of the top 20 diseases related to Hypoparathyroidism, Familial Isolated:



Diseases related to Hypoparathyroidism, Familial Isolated

Symptoms & Phenotypes for Hypoparathyroidism, Familial Isolated

Symptoms by clinical synopsis from OMIM:

146200

Clinical features from OMIM:

146200

Human phenotypes related to Hypoparathyroidism, Familial Isolated:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 cerebral calcification 56 32 Frequent (79-30%) HP:0002514
3 cataract 56 32 Frequent (79-30%) HP:0000518
4 short stature 56 32 Very frequent (99-80%) HP:0004322
5 nephropathy 56 32 Very frequent (99-80%) HP:0000112
6 myopathy 56 32 Very frequent (99-80%) HP:0003198
7 arrhythmia 56 32 Frequent (79-30%) HP:0011675
8 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
9 hypoparathyroidism 56 32 Very frequent (99-80%) HP:0000829
10 abnormality of dental enamel 56 32 Frequent (79-30%) HP:0000682
11 hypocalcemia 56 32 Very frequent (99-80%) HP:0002901
12 abnormality of calcium-phosphate metabolism 56 32 Very frequent (99-80%) HP:0100530
13 tetany 32 HP:0001281
14 hyperphosphatemia 32 HP:0002905

MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 GCM2 PTH

Drugs & Therapeutics for Hypoparathyroidism, Familial Isolated

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

Genetic Tests for Hypoparathyroidism, Familial Isolated

Genetic tests related to Hypoparathyroidism, Familial Isolated:

id Genetic test Affiliating Genes
1 Hypoparathyroidism Familial Isolated 29
2 Hypoparathyroidism, Autosomal Recessive 29
3 Familial Isolated Hypoparathyroidism 24 PTH

Anatomical Context for Hypoparathyroidism, Familial Isolated

MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated:

39
Thymus, Eye

Publications for Hypoparathyroidism, Familial Isolated

Variations for Hypoparathyroidism, Familial Isolated

UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Familial Isolated:

66
id Symbol AA change Variation ID SNP ID
1 GCM2 p.Arg47Leu VAR_058044 rs104893959
2 GCM2 p.Gly63Ser VAR_058045 rs104893960
3 GCM2 p.Arg110Trp VAR_065495 rs780594439
4 GCM2 p.Asn502His VAR_065498 rs533942394
5 PTH p.Cys18Arg VAR_006047 rs104894271
6 PTH p.Ser23Pro VAR_018464 rs104894272

ClinVar genetic disease variations for Hypoparathyroidism, Familial Isolated:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GCM2 GCM2, EX1-4DEL deletion Pathogenic
2 GCM2 NM_004752.3(GCM2): c.140G> T (p.Arg47Leu) single nucleotide variant Pathogenic rs104893959 GRCh37 Chromosome 6, 10877576: 10877576
3 GCM2 NM_004752.3(GCM2): c.187G> A (p.Gly63Ser) single nucleotide variant Pathogenic rs104893960 GRCh37 Chromosome 6, 10877529: 10877529
4 PTH NM_000315.3(PTH): c.52T> C (p.Cys18Arg) single nucleotide variant Pathogenic rs104894271 GRCh37 Chromosome 11, 13514351: 13514351
5 PTH PTH, IVS2DS, G-C, +1, EX2DEL deletion Pathogenic
6 PTH NM_000315.3(PTH): c.67T> C (p.Ser23Pro) single nucleotide variant Pathogenic rs104894272 GRCh37 Chromosome 11, 13514336: 13514336
7 CASR NM_000388.3(CASR): c.1934C> A (p.Ala645Asp) single nucleotide variant Likely pathogenic rs193922430 GRCh37 Chromosome 3, 122002735: 122002735
8 GCM2 NM_004752.3(GCM2): c.893delT (p.Ile298Thrfs) deletion Pathogenic rs886037646 GRCh37 Chromosome 6, 10874856: 10874856

Expression for Hypoparathyroidism, Familial Isolated

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

Pathways for Hypoparathyroidism, Familial Isolated

GO Terms for Hypoparathyroidism, Familial Isolated

Biological processes related to Hypoparathyroidism, Familial Isolated according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 8.96 GCM2 PTH
2 cellular calcium ion homeostasis GO:0006874 8.62 GCM2 PTH

Sources for Hypoparathyroidism, Familial Isolated

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
Content
Loading form....