MCID: HYP344
MIFTS: 23

Hyperthyroidism, Familial Gestational

Categories: Genetic diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperthyroidism, Familial Gestational

MalaCards integrated aliases for Hyperthyroidism, Familial Gestational:

Name: Hyperthyroidism, Familial Gestational 57 29 13 55 6 40 73
Familial Gestational Hyperthyroidism 59 75
Htfg 75

Characteristics:

Orphanet epidemiological data:

59
familial gestational hyperthyroidism
Inheritance: Autosomal dominant;

HPO:

32
hyperthyroidism, familial gestational:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603373
Orphanet 59 ORPHA99819
UMLS via Orphanet 74 C1863959
ICD10 via Orphanet 34 E05.8
MESH via Orphanet 45 C566384
MedGen 42 C1863959
MeSH 44 D006980
UMLS 73 C1863959

Summaries for Hyperthyroidism, Familial Gestational

OMIM : 57 Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see 118860) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (231090), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997). (603373)

MalaCards based summary : Hyperthyroidism, Familial Gestational, also known as familial gestational hyperthyroidism, is related to hyperthyroidism and hyperthyroidism, nonautoimmune. An important gene associated with Hyperthyroidism, Familial Gestational is TSHR (Thyroid Stimulating Hormone Receptor). Affiliated tissues include thyroid, and related phenotypes are hyperthyroidism and hyperemesis gravidarum

UniProtKB/Swiss-Prot : 75 Familial gestational hyperthyroidism: A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy.

Related Diseases for Hyperthyroidism, Familial Gestational

Diseases related to Hyperthyroidism, Familial Gestational via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperthyroidism 9.8
2 hyperthyroidism, nonautoimmune 9.2 LOC101928462 TSHR
3 hypothyroidism, congenital, nongoitrous, 1 9.0 LOC101928462 TSHR

Symptoms & Phenotypes for Hyperthyroidism, Familial Gestational

Clinical features from OMIM:

603373

Human phenotypes related to Hyperthyroidism, Familial Gestational:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperthyroidism 59 32 Obligate (100%) HP:0000836
2 hyperemesis gravidarum 59 32 obligate (100%) Obligate (100%) HP:0012188
3 goiter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000853
4 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
5 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
6 hand tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002378
7 thyroid hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008249
8 thyrotoxicosis with diffuse goiter 59 32 hallmark (90%) Very frequent (99-80%) HP:0011784
9 agitation 59 32 frequent (33%) Frequent (79-30%) HP:0000713
10 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
11 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
12 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
13 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
14 activating thyroid-stimulating hormone receptor (tshr) defect 59 Obligate (100%)
15 autoimmune antibody positivity 59 Excluded (0%)
16 activating thyroid-stimulating hormone receptor defect 32 obligate (100%) HP:0011790

Drugs & Therapeutics for Hyperthyroidism, Familial Gestational

Search Clinical Trials , NIH Clinical Center for Hyperthyroidism, Familial Gestational

Genetic Tests for Hyperthyroidism, Familial Gestational

Genetic tests related to Hyperthyroidism, Familial Gestational:

# Genetic test Affiliating Genes
1 Hyperthyroidism, Familial Gestational 29 TSHR

Anatomical Context for Hyperthyroidism, Familial Gestational

MalaCards organs/tissues related to Hyperthyroidism, Familial Gestational:

41
Thyroid

Publications for Hyperthyroidism, Familial Gestational

Articles related to Hyperthyroidism, Familial Gestational:

# Title Authors Year
1
Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. ( 9854118 )
1998

Variations for Hyperthyroidism, Familial Gestational

UniProtKB/Swiss-Prot genetic disease variations for Hyperthyroidism, Familial Gestational:

75
# Symbol AA change Variation ID SNP ID
1 TSHR p.Lys183Arg VAR_003566

ClinVar genetic disease variations for Hyperthyroidism, Familial Gestational:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSHR NM_000369.2(TSHR): c.548A> G (p.Lys183Arg) single nucleotide variant Pathogenic rs121908879 GRCh37 Chromosome 14, 81562985: 81562985
2 TSHR NM_000369.2(TSHR): c.548A> G (p.Lys183Arg) single nucleotide variant Pathogenic rs121908879 GRCh38 Chromosome 14, 81096641: 81096641

Expression for Hyperthyroidism, Familial Gestational

Search GEO for disease gene expression data for Hyperthyroidism, Familial Gestational.

Pathways for Hyperthyroidism, Familial Gestational

GO Terms for Hyperthyroidism, Familial Gestational

Sources for Hyperthyroidism, Familial Gestational

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....