HTFG
MCID: HYP344
MIFTS: 26

Hyperthyroidism, Familial Gestational (HTFG)

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

Aliases & Classifications for Hyperthyroidism, Familial Gestational

MalaCards integrated aliases for Hyperthyroidism, Familial Gestational:

Name: Hyperthyroidism, Familial Gestational 57 29 13 54 6 39 70
Familial Gestational Hyperthyroidism 58 72
Htfg 72

Characteristics:

Orphanet epidemiological data:

58
familial gestational hyperthyroidism
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hyperthyroidism, familial gestational:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

OMIM® 57 603373
MeSH 44 D006980
MESH via Orphanet 45 C566384
ICD10 via Orphanet 33 E05.8
UMLS via Orphanet 71 C1863959
Orphanet 58 ORPHA99819
MedGen 41 C1863959
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Hyperthyroidism, Familial Gestational, also known as familial gestational hyperthyroidism, is related to hyperthyroidism and graves disease 1. An important gene associated with Hyperthyroidism, Familial Gestational is TSHR (Thyroid Stimulating Hormone Receptor). Affiliated tissues include thyroid, and related phenotypes are hyperemesis gravidarum and activating thyroid-stimulating hormone receptor defect

UniProtKB/Swiss-Prot : 72 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 10.2
2 graves disease 1 10.0
3 allergic disease 10.0

Symptoms & Phenotypes for Hyperthyroidism, Familial Gestational

Human phenotypes related to Hyperthyroidism, Familial Gestational:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperemesis gravidarum 58 31 very rare (1%) Obligate (100%) HP:0012188
2 activating thyroid-stimulating hormone receptor defect 31 obligate (100%) HP:0011790
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 goiter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000853
5 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
6 hand tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002378
7 thyroid hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008249
8 thyrotoxicosis with diffuse goiter 58 31 hallmark (90%) Very frequent (99-80%) HP:0011784
9 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
12 agitation 58 31 frequent (33%) Frequent (79-30%) HP:0000713
13 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
14 hyperthyroidism 58 31 very rare (1%) Obligate (100%) HP:0000836
15 tachycardia 31 very rare (1%) HP:0001649
16 decreased thyroid-stimulating hormone level 31 very rare (1%) HP:0031098
17 increased circulating t4 level 31 very rare (1%) HP:0031506
18 activating thyroid-stimulating hormone receptor (tshr) defect 58 Obligate (100%)
19 autoimmune antibody positivity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
vomiting
nausea

Prenatal Manifestations Maternal:
hyperemesis gravidarum

Prenatal Manifestations Delivery:
spontaneous abortion, recurrent

Growth Weight:
weight loss

Laboratory Abnormalities:
decreased tsh
increased serum triiodothyronine (t3)
increased serum free thyroxine (t4)

Endocrine Features:
gestational hyperthyroidism
diffuse goiter

Clinical features from OMIM®:

603373 (Updated 05-Apr-2021)

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:

40
Thyroid

Publications for Hyperthyroidism, Familial Gestational

Articles related to Hyperthyroidism, Familial Gestational:

# Title Authors PMID Year
1
Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. 61 6 57
9854118 1998
2
Novel insights into the molecular mechanisms of human thyrotropin action: structural, physiological, and therapeutic implications for the glycoprotein hormone family. 57
9267761 1997
3
Activating mutations of TSH receptor. 54 61
12707626 2003
4
[From gene to disease; thyroid stimulating hormone receptor, hyperthyroidism and hypothyroidism]. 61 54
11379397 2001
5
New variant (Val597Ile) in transmembrane region of the TSH receptor with human chorionic gonadotropin hypersensitivity in familial gestational hyperthyroidism. 61
32437589 2020
6
TSH receptor gene mutations and familial gestational hyperthyroidism. 61
10427147 1999
7
Pathology of the TSH receptor. 61
10698593 1999

Variations for Hyperthyroidism, Familial Gestational

ClinVar genetic disease variations for Hyperthyroidism, Familial Gestational:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSHR NM_000369.5(TSHR):c.548A>G (p.Lys183Arg) SNV Pathogenic 6453 rs121908879 GRCh37: 14:81562985-81562985
GRCh38: 14:81096641-81096641
2 TSHR NM_000369.5(TSHR):c.667G>T (p.Gly223Ter) SNV Pathogenic 1031536 GRCh37: 14:81574771-81574771
GRCh38: 14:81108427-81108427
3 TSHR NM_000369.5(TSHR):c.2282A>C (p.Gln761Pro) SNV Uncertain significance 1029802 GRCh37: 14:81610684-81610684
GRCh38: 14:81144340-81144340

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

72
# Symbol AA change Variation ID SNP ID
1 TSHR p.Lys183Arg VAR_003566

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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