MCID: HYP249
MIFTS: 29

Hyperthyroidism, Nonautoimmune

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

Aliases & Classifications for Hyperthyroidism, Nonautoimmune

MalaCards integrated aliases for Hyperthyroidism, Nonautoimmune:

Name: Hyperthyroidism, Nonautoimmune 57 29 13 6 40
Familial Hyperthyroidism Due to Mutations in Tsh Receptor 59 75
Resistance to Thyroid Stimulating Hormone 59 75
Familial Non-Immune Hyperthyroidism 59 75
Hyperthyroidism, Nonautoimmune, Autosomal Dominant 57
Hyperthyroidism Non-Autoimmune Autosomal Dominant 75
Toxic Thyroid Hyperplasia, Autosomal Dominant 57
Toxic Thyroid Hyperplasia Autosomal Dominant 75
Hyperthyroidism, Congenital Nonautoimmune 57
Hyperthyroidism Congenital Non-Autoimmune 75
Hyperthyroidism, Non-Autoimmune 75
Htna 75

Characteristics:

Orphanet epidemiological data:

59
familial hyperthyroidism due to mutations in tsh receptor
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
age at onset ranges from neonatal to adulthood
phenotypic variation
patients usually require total thyroidectomy
distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see )


HPO:

32
hyperthyroidism, nonautoimmune:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Hyperthyroidism, Nonautoimmune

UniProtKB/Swiss-Prot : 75 Hyperthyroidism, non-autoimmune: A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent.

MalaCards based summary : Hyperthyroidism, Nonautoimmune, also known as familial hyperthyroidism due to mutations in tsh receptor, is related to familial hyperthyroidism due to mutations in tsh receptor and hyperthyroidism, and has symptoms including difficulty sleeping An important gene associated with Hyperthyroidism, Nonautoimmune is TSHR (Thyroid Stimulating Hormone Receptor). Affiliated tissues include thyroid, bone and eye, and related phenotypes are hyperthyroidism and goiter

Description from OMIM: 609152

Related Diseases for Hyperthyroidism, Nonautoimmune

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

# Related Disease Score Top Affiliating Genes
1 familial hyperthyroidism due to mutations in tsh receptor 11.4
2 hyperthyroidism 9.8
3 hyperthyroidism, familial gestational 8.9 LOC101928462 TSHR
4 hypothyroidism, congenital, nongoitrous, 1 8.5 CEP128 LOC101928462 TSHR

Symptoms & Phenotypes for Hyperthyroidism, Nonautoimmune

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hyperthyroidism
goiter
thyroid hyperplasia
absence of immune complexes and lymphocytes in thyroid tissue

Cardiovascular Heart:
tachycardia

Skeletal:
advanced bone age

Immunology:
absence of anti-thyroid antibodies

Skin Nails Hair Skin:
absence of dermopathy
absence of pretibial myxedema

Laboratory Abnormalities:
decreased serum thyroid-stimulating hormone (tsh)
increased serum levels of free plasma thyroid hormones

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Neurologic Central Nervous System:
delayed motor development
mental retardation
delayed speech development
sleep difficulties

Growth Weight:
low birth weight

Head And Neck Eyes:
absence of exophthalmos

Prenatal Manifestations Delivery:
premature delivery of affected infants


Clinical features from OMIM:

609152

Human phenotypes related to Hyperthyroidism, Nonautoimmune:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperthyroidism 59 32 Obligate (100%) HP:0000836
2 goiter 59 32 Very frequent (99-80%) HP:0000853
3 small for gestational age 59 32 Very frequent (99-80%) HP:0001518
4 thyroid hyperplasia 59 32 Very frequent (99-80%) HP:0008249
5 hyperactivity 59 32 Frequent (79-30%) HP:0000752
6 motor delay 59 32 Frequent (79-30%) HP:0001270
7 accelerated skeletal maturation 59 32 Frequent (79-30%) HP:0005616
8 activating thyroid-stimulating hormone receptor (tshr) defect 59 Obligate (100%)
9 weight loss 59 Very frequent (99-80%)
10 diarrhea 59 Very frequent (99-80%)
11 hand tremor 59 Very frequent (99-80%)
12 thyrotoxicosis with diffuse goiter 59 Very frequent (99-80%)
13 agitation 59 Frequent (79-30%)
14 global developmental delay 59 Frequent (79-30%)
15 sleep disturbance 59 Frequent (79-30%)
16 proptosis 59 Very rare (<4-1%)
17 abnormal eye morphology 59 Excluded (0%)
18 autoimmune antibody positivity 59 Excluded (0%)
19 delayed speech and language development 32 HP:0000750
20 intellectual disability 32 HP:0001249
21 premature birth 32 HP:0001622
22 tachycardia 32 HP:0001649
23 abnormality of metabolism/homeostasis 32 HP:0001939

UMLS symptoms related to Hyperthyroidism, Nonautoimmune:


difficulty sleeping

Drugs & Therapeutics for Hyperthyroidism, Nonautoimmune

Search Clinical Trials , NIH Clinical Center for Hyperthyroidism, Nonautoimmune

Genetic Tests for Hyperthyroidism, Nonautoimmune

Genetic tests related to Hyperthyroidism, Nonautoimmune:

# Genetic test Affiliating Genes
1 Hyperthyroidism, Nonautoimmune 29 TSHR

Anatomical Context for Hyperthyroidism, Nonautoimmune

MalaCards organs/tissues related to Hyperthyroidism, Nonautoimmune:

41
Thyroid, Bone, Eye

Publications for Hyperthyroidism, Nonautoimmune

Articles related to Hyperthyroidism, Nonautoimmune:

# Title Authors Year
1
Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. ( 22313426 )
2012

Variations for Hyperthyroidism, Nonautoimmune

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

75 (show all 21)
# Symbol AA change Variation ID SNP ID
1 TSHR p.Ser281Asn VAR_003570
2 TSHR p.Ser505Asn VAR_003571
3 TSHR p.Leu629Phe VAR_003575
4 TSHR p.Gly431Ser VAR_011527
5 TSHR p.Met453Thr VAR_011529
6 TSHR p.Met463Val VAR_011530
7 TSHR p.Ile486Phe VAR_011531
8 TSHR p.Ile486Met VAR_011532
9 TSHR p.Ser505Arg VAR_011534
10 TSHR p.Val509Ala VAR_011535
11 TSHR p.Ile568Thr VAR_011539
12 TSHR p.Phe631Leu VAR_011545
13 TSHR p.Thr632Ala VAR_011546
14 TSHR p.Thr632Ile VAR_011547
15 TSHR p.Asp633Glu VAR_011549
16 TSHR p.Pro639Ser VAR_011552
17 TSHR p.Ala647Val VAR_011553
18 TSHR p.Asn650Tyr VAR_011554
19 TSHR p.Asn670Ser VAR_011556
20 TSHR p.Cys672Tyr VAR_011557
21 TSHR p.Val597Phe VAR_021499

ClinVar genetic disease variations for Hyperthyroidism, Nonautoimmune:

6
(show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSHR NM_000369.2(TSHR): c.1891T> C (p.Phe631Leu) single nucleotide variant Pathogenic rs121908861 GRCh37 Chromosome 14, 81610293: 81610293
2 TSHR NM_000369.2(TSHR): c.1891T> C (p.Phe631Leu) single nucleotide variant Pathogenic rs121908861 GRCh38 Chromosome 14, 81143949: 81143949
3 TSHR NM_000369.2(TSHR): c.1358T> C (p.Met453Thr) single nucleotide variant Pathogenic rs121908864 GRCh37 Chromosome 14, 81609760: 81609760
4 TSHR NM_000369.2(TSHR): c.1358T> C (p.Met453Thr) single nucleotide variant Pathogenic rs121908864 GRCh38 Chromosome 14, 81143416: 81143416
5 TSHR NM_000369.2(TSHR): c.1526T> C (p.Val509Ala) single nucleotide variant Pathogenic rs121908874 GRCh37 Chromosome 14, 81609928: 81609928
6 TSHR NM_000369.2(TSHR): c.1526T> C (p.Val509Ala) single nucleotide variant Pathogenic rs121908874 GRCh38 Chromosome 14, 81143584: 81143584
7 TSHR NM_000369.2(TSHR): c.2015G> A (p.Cys672Tyr) single nucleotide variant Pathogenic rs121908875 GRCh37 Chromosome 14, 81610417: 81610417
8 TSHR NM_000369.2(TSHR): c.2015G> A (p.Cys672Tyr) single nucleotide variant Pathogenic rs121908875 GRCh38 Chromosome 14, 81144073: 81144073
9 TSHR NM_000369.2(TSHR): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic rs121908876 GRCh37 Chromosome 14, 81609916: 81609916
10 TSHR NM_000369.2(TSHR): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic rs121908876 GRCh38 Chromosome 14, 81143572: 81143572
11 TSHR NM_000369.2(TSHR): c.1887G> T (p.Leu629Phe) single nucleotide variant Pathogenic rs121908877 GRCh37 Chromosome 14, 81610289: 81610289
12 TSHR NM_000369.2(TSHR): c.1887G> T (p.Leu629Phe) single nucleotide variant Pathogenic rs121908877 GRCh38 Chromosome 14, 81143945: 81143945
13 TSHR NM_000369.2(TSHR): c.842G> A (p.Ser281Asn) single nucleotide variant Pathogenic rs121908873 GRCh37 Chromosome 14, 81606172: 81606172
14 TSHR NM_000369.2(TSHR): c.842G> A (p.Ser281Asn) single nucleotide variant Pathogenic rs121908873 GRCh38 Chromosome 14, 81139828: 81139828
15 TSHR NM_000369.2(TSHR): c.1915C> T (p.Pro639Ser) single nucleotide variant Pathogenic rs121908880 GRCh37 Chromosome 14, 81610317: 81610317
16 TSHR NM_000369.2(TSHR): c.1915C> T (p.Pro639Ser) single nucleotide variant Pathogenic rs121908880 GRCh38 Chromosome 14, 81143973: 81143973
17 TSHR NM_000369.2(TSHR): c.1291G> A (p.Gly431Ser) single nucleotide variant Pathogenic rs121908883 GRCh37 Chromosome 14, 81609693: 81609693
18 TSHR NM_000369.2(TSHR): c.1291G> A (p.Gly431Ser) single nucleotide variant Pathogenic rs121908883 GRCh38 Chromosome 14, 81143349: 81143349
19 TSHR NM_000369.2(TSHR): c.881+3A> G single nucleotide variant Likely benign rs186091357 GRCh38 Chromosome 14, 81139870: 81139870
20 TSHR NM_000369.2(TSHR): c.881+3A> G single nucleotide variant Likely benign rs186091357 GRCh37 Chromosome 14, 81606214: 81606214
21 TSHR NM_000369.2(TSHR): c.545+13A> G single nucleotide variant Likely benign rs2241119 GRCh37 Chromosome 14, 81558965: 81558965
22 TSHR NM_000369.2(TSHR): c.545+13A> G single nucleotide variant Likely benign rs2241119 GRCh38 Chromosome 14, 81092621: 81092621
23 TSHR NM_000369.2(TSHR): c.561T> C (p.Asn187=) single nucleotide variant Likely benign rs2075179 GRCh38 Chromosome 14, 81096654: 81096654
24 TSHR NM_000369.2(TSHR): c.561T> C (p.Asn187=) single nucleotide variant Likely benign rs2075179 GRCh37 Chromosome 14, 81562998: 81562998
25 TSHR NM_000369.2(TSHR): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs113951800 GRCh38 Chromosome 14, 81143435: 81143435
26 TSHR NM_000369.2(TSHR): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs113951800 GRCh37 Chromosome 14, 81609779: 81609779
27 TSHR NM_000369.2(TSHR): c.1290G> A (p.Leu430=) single nucleotide variant Uncertain significance rs375393735 GRCh38 Chromosome 14, 81143348: 81143348
28 TSHR NM_000369.2(TSHR): c.1290G> A (p.Leu430=) single nucleotide variant Uncertain significance rs375393735 GRCh37 Chromosome 14, 81609692: 81609692
29 TSHR NM_000369.2(TSHR): c.*18C> A single nucleotide variant Likely benign rs77789619 GRCh38 Chromosome 14, 81144371: 81144371
30 TSHR NM_000369.2(TSHR): c.*18C> A single nucleotide variant Likely benign rs77789619 GRCh37 Chromosome 14, 81610715: 81610715
31 TSHR NM_000369.2(TSHR): c.*319G> A single nucleotide variant Uncertain significance rs886050857 GRCh38 Chromosome 14, 81144672: 81144672
32 TSHR NM_000369.2(TSHR): c.*319G> A single nucleotide variant Uncertain significance rs886050857 GRCh37 Chromosome 14, 81611016: 81611016
33 TSHR NM_000369.2(TSHR): c.*1154dupT duplication Likely benign rs886050858 GRCh37 Chromosome 14, 81611851: 81611851
34 TSHR NM_000369.2(TSHR): c.*1154dupT duplication Likely benign rs886050858 GRCh38 Chromosome 14, 81145507: 81145507
35 TSHR NM_000369.2(TSHR): c.*1620C> G single nucleotide variant Uncertain significance rs886050860 GRCh38 Chromosome 14, 81145973: 81145973
36 TSHR NM_000369.2(TSHR): c.*1620C> G single nucleotide variant Uncertain significance rs886050860 GRCh37 Chromosome 14, 81612317: 81612317
37 TSHR NM_000369.2(TSHR): c.*1742G> T single nucleotide variant Uncertain significance rs886050861 GRCh38 Chromosome 14, 81146095: 81146095
38 TSHR NM_000369.2(TSHR): c.*1742G> T single nucleotide variant Uncertain significance rs886050861 GRCh37 Chromosome 14, 81612439: 81612439
39 TSHR NM_000369.2(TSHR): c.-60G> A single nucleotide variant Uncertain significance rs201252762 GRCh37 Chromosome 14, 81421965: 81421965
40 TSHR NM_000369.2(TSHR): c.-60G> A single nucleotide variant Uncertain significance rs201252762 GRCh38 Chromosome 14, 80955621: 80955621
41 TSHR NM_000369.2(TSHR): c.171-11T> C single nucleotide variant Uncertain significance rs145265345 GRCh38 Chromosome 14, 81062137: 81062137
42 TSHR NM_000369.2(TSHR): c.171-11T> C single nucleotide variant Uncertain significance rs145265345 GRCh37 Chromosome 14, 81528481: 81528481
43 TSHR NM_000369.2(TSHR): c.615-6C> G single nucleotide variant Uncertain significance rs886050854 GRCh38 Chromosome 14, 81108369: 81108369
44 TSHR NM_000369.2(TSHR): c.615-6C> G single nucleotide variant Uncertain significance rs886050854 GRCh37 Chromosome 14, 81574713: 81574713
45 TSHR NM_000369.2(TSHR): c.692+3G> A single nucleotide variant Uncertain significance rs552128204 GRCh38 Chromosome 14, 81108455: 81108455
46 TSHR NM_000369.2(TSHR): c.692+3G> A single nucleotide variant Uncertain significance rs552128204 GRCh37 Chromosome 14, 81574799: 81574799
47 TSHR NM_000369.2(TSHR): c.*1152T> A single nucleotide variant Likely benign rs2288494 GRCh37 Chromosome 14, 81611849: 81611849
48 TSHR NM_000369.2(TSHR): c.*1152T> A single nucleotide variant Likely benign rs2288494 GRCh38 Chromosome 14, 81145505: 81145505
49 TSHR NM_000369.2(TSHR): c.*1222G> C single nucleotide variant Likely benign rs2288495 GRCh38 Chromosome 14, 81145575: 81145575
50 TSHR NM_000369.2(TSHR): c.*1222G> C single nucleotide variant Likely benign rs2288495 GRCh37 Chromosome 14, 81611919: 81611919

Expression for Hyperthyroidism, Nonautoimmune

Search GEO for disease gene expression data for Hyperthyroidism, Nonautoimmune.

Pathways for Hyperthyroidism, Nonautoimmune

GO Terms for Hyperthyroidism, Nonautoimmune

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