GRTHR
MCID: THY114
MIFTS: 27

Thyroid Hormone Resistance, Generalized, Autosomal Recessive (GRTHR)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

MalaCards integrated aliases for Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

Name: Thyroid Hormone Resistance, Generalized, Autosomal Recessive 57 29 6 39 70
Thyroid Hormone Resistance, Autosomal Recessive 57 13
Thyroid Hormone Resistance, Generalized, Autosomal Dominant 70
Generalized Thyroid Hormone Resistance Autosomal Recessive 72
Thyroid Hormone Resistance Syndrome 70
Thyroid Hormone Unresponsiveness 57
Refetoff Syndrome 57
Gthrar 72
Grthr 57
Gthr 57

Characteristics:

OMIM®:

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


HPO:

31
thyroid hormone resistance, generalized, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 274300
UMLS 70 C2937288 C2940786 C3489796

Summaries for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Generalized thyroid hormone resistance autosomal recessive: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone.

MalaCards based summary : Thyroid Hormone Resistance, Generalized, Autosomal Recessive, also known as thyroid hormone resistance, autosomal recessive, is related to thyroid hormone resistance, generalized, autosomal dominant and generalized resistance to thyroid hormone. An important gene associated with Thyroid Hormone Resistance, Generalized, Autosomal Recessive is THRB (Thyroid Hormone Receptor Beta). Affiliated tissues include thyroid and pituitary, and related phenotypes are hearing impairment and epiphyseal stippling

More information from OMIM: 274300

Related Diseases for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Diseases in the Generalized Resistance to Thyroid Hormone family:

Thyroid Hormone Resistance, Generalized, Autosomal Dominant Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 thyroid hormone resistance, generalized, autosomal dominant 11.5
2 generalized resistance to thyroid hormone 11.5
3 congenital hypothyroidism 10.0
4 graves' disease 10.0
5 hypothyroidism 10.0
6 exophthalmos 10.0
7 cardiogenic shock 10.0
8 papillomatosis, confluent and reticulated 10.0
9 thyroid hormone resistance, selective pituitary 10.0
10 graves disease 1 10.0
11 orthostatic intolerance 10.0
12 primary hyperparathyroidism 10.0
13 goiter 10.0
14 hyperparathyroidism 10.0
15 pituitary tumors 10.0
16 tremor 10.0

Graphical network of the top 20 diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:



Diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Symptoms & Phenotypes for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Human phenotypes related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 epiphyseal stippling 31 HP:0010655
3 proptosis 31 HP:0000520
4 goiter 31 HP:0000853
5 small for gestational age 31 HP:0001518
6 impaired sensitivity to thyroid hormone 31 HP:0002930

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neck:
goiter

Ears:
congenital deafness

Endocrine:
end-organ unresponsiveness to thyroid hormone
thyroid hormone receptor-beta gene (thr1) deletion
clinical euthyroidism

Misc:
low birth weight for dates

Eyes:
exophthalmos

Skel:
stippled epiphyses

Lab:
abnormally high pbi
elevated blood thyroid hormones
elevated thyrotropin
normal response to thyrotropin-releasing hormone

Clinical features from OMIM®:

274300 (Updated 05-Apr-2021)

Drugs & Therapeutics for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Genetic Tests for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Genetic tests related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29 THRB

Anatomical Context for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

MalaCards organs/tissues related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

40
Thyroid, Pituitary

Publications for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Articles related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

(show all 15)
# Title Authors PMID Year
1
Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. 6 57
1991834 1991
2
Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. 6 57
4163616 1967
3
Thyroid hormone unresponsiveness in two siblings with intrauterine growth retardation exophthalmos. 57 61
6538138 1984
4
A rare thyroid hormone receptor beta (THR╬▓) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report. 6
24393243 2014
5
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. 6
8013151 1994
6
Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. 6
1682340 1991
7
A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. 6
1653889 1991
8
Thyroid hormone action at the nuclear level. 57
2982308 1985
9
Syndromes of thyroid hormone resistance. 57
6287848 1982
10
Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. 57
6769941 1980
11
Nuclear receptors for thyroid hormone: evidence for nonrandom distribution within chromatin. 57
168576 1975
12
Partial target organ resistance to thyroid hormone. 57
4632689 1973
13
Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones. 57
4123403 1973
14
Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. 57
5047916 1972
15
Congenital hypothyroidism and partial thyroid hormone unresponsiveness of the pituitary in a patient with congenital thyroxine binding albumin elevation. 61
2512164 1989

Variations for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

ClinVar genetic disease variations for Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THRB THRB, EX4-10DEL Deletion Pathogenic 12538 GRCh37:
GRCh38:
2 THRB NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) Deletion Pathogenic 12539 rs387906515 GRCh37: 3:24169122-24169124
GRCh38: 3:24127631-24127633
3 THRB NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) SNV Likely pathogenic 492912 rs750905761 GRCh37: 3:24174889-24174889
GRCh38: 3:24133398-24133398

Expression for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Search GEO for disease gene expression data for Thyroid Hormone Resistance, Generalized, Autosomal Recessive.

Pathways for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

GO Terms for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Sources for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

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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