MCID: HYP562
MIFTS: 31

Hypothyroidism, Congenital, Nongoitrous, 6

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 6

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 6:

Name: Hypothyroidism, Congenital, Nongoitrous, 6 57 29 13 6 73
Chng6 57 75
Hypothyroidism, Congenital, Non-Goitrous, 6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
many features are present only in an untreated patient


HPO:

32
hypothyroidism, congenital, nongoitrous, 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypothyroidism, Congenital, Nongoitrous, 6

UniProtKB/Swiss-Prot : 75 Hypothyroidism, congenital, non-goitrous, 6: A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 6, also known as chng6, is related to congenital nongoitrous hypothryoidism 6, and has symptoms including constipation and dry skin. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 6 is THRA (Thyroid Hormone Receptor Alpha), and among its related pathways/superpathways is Nuclear Receptor transcription pathway. Affiliated tissues include thyroid, pituitary and liver, and related phenotypes are macroglossia and hypertelorism

Description from OMIM: 614450

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 6

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6

Diseases related to Hypothyroidism, Congenital, Nongoitrous, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital nongoitrous hypothryoidism 6 11.2

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
macroglossia

Skin Nails Hair Skin:
dry skin
doughy skin (in some patients)

Skeletal Pelvis:
congenital hip dislocation
absence of hip ossification centers

Neurologic Central Nervous System:
drowsiness
impairment of gross and fine motor coordination
slow reactions
difficulty with writing and drawing
slow, broad-based gait

Skeletal Skull:
delayed bone age
multiple wormian bones
delayed fusion of cranial sutures
patent anterior fontanel

Growth Height:
growth deficit affecting lower segment of body

Head And Neck Nose:
low or flat nasal bridge

Cardiovascular Vascular:
low resting blood pressure
tortuosity of arteries of dorsal hands and feet (in some patients)

Muscle Soft Tissue:
reduced muscle tone but normal power

Neurologic Behavioral Psychiatric Manifestations:
placid affect

Metabolic Features:
decreased basal metabolic rate

Laboratory Abnormalities:
slightly elevated creatine kinase
slightly elevated cholesterol

Abdomen Gastrointestinal:
constipation
dilated bowel
delayed intestinal transit

Hematology:
anemia

Abdomen External Features:
omphalocele

Head And Neck Head:
relative macrocephaly

Head And Neck Teeth:
delayed tooth eruption

Growth Other:
growth retardation

Growth Weight:
increased body mass index

Cardiovascular Heart:
low resting heart rate

Skeletal Limbs:
decreased subischial leg length with normal sitting height
femoral epiphyseal dysgenesis
mild hypermobility and ligamentous laxity at knee and ankle

Neurologic Peripheral Nervous System:
slow deep tendon reflexes

Voice:
slow, monotonous speech
deep or hoarse voice

Endocrine Features:
total and free thyroxine low-normal or subnormal
total and free triiodothyronine high-normal or elevated
total thyroxine to total triiodothyronine ratio markedly low
free thyroxine to free triiodothyronine ratio markedly low
thyroid stimulating hormone normal
more

Clinical features from OMIM:

614450

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 6:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 hypertelorism 32 HP:0000316
3 delayed eruption of teeth 32 HP:0000684
4 congenital hypothyroidism 32 HP:0000851
5 dry skin 32 HP:0000958
6 congenital hip dislocation 32 HP:0001374
7 growth delay 32 HP:0001510
8 omphalocele 32 HP:0001539
9 anemia 32 HP:0001903
10 constipation 32 HP:0002019
11 drowsiness 32 HP:0002329
12 delayed skeletal maturation 32 HP:0002750
13 thyroid hormone receptor defect 32 HP:0002930
14 increased body weight 32 HP:0004324
15 relative macrocephaly 32 HP:0004482
16 increased t3/t4 ratio 32 HP:0012559

UMLS symptoms related to Hypothyroidism, Congenital, Nongoitrous, 6:


constipation, dry skin

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 6

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 6

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 6

Genetic tests related to Hypothyroidism, Congenital, Nongoitrous, 6:

# Genetic test Affiliating Genes
1 Hypothyroidism, Congenital, Nongoitrous, 6 29 THRA

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 6

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 6:

41
Thyroid, Pituitary, Liver, Skin, Bone, Heart, Testes

Publications for Hypothyroidism, Congenital, Nongoitrous, 6

Variations for Hypothyroidism, Congenital, Nongoitrous, 6

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 6:

75
# Symbol AA change Variation ID SNP ID
1 THRA p.Ala263Val VAR_074559
2 THRA p.Asn359Tyr VAR_074560

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 6:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 THRA NM_001190919.1(THRA): c.134G> T (p.Ser45Ile) single nucleotide variant Pathogenic rs137853162 GRCh37 Chromosome 17, 38233773: 38233773
2 THRA NM_001190919.1(THRA): c.134G> T (p.Ser45Ile) single nucleotide variant Pathogenic rs137853162 GRCh38 Chromosome 17, 40077520: 40077520
3 THRA NM_001190919.1(THRA): c.1110G> C (p.Lys370Asn) single nucleotide variant Pathogenic rs137853163 GRCh37 Chromosome 17, 38245586: 38245586
4 THRA NM_001190919.1(THRA): c.1110G> C (p.Lys370Asn) single nucleotide variant Pathogenic rs137853163 GRCh38 Chromosome 17, 40089333: 40089333
5 THRA NM_199334.3(THRA): c.1176C> A (p.Cys392Ter) single nucleotide variant Pathogenic rs876657394 GRCh37 Chromosome 17, 38245652: 38245652
6 THRA NM_199334.3(THRA): c.1176C> A (p.Cys392Ter) single nucleotide variant Pathogenic rs876657394 GRCh38 Chromosome 17, 40089399: 40089399
7 THRA NM_199334.3(THRA): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs876657395 GRCh37 Chromosome 17, 38245683: 38245683
8 THRA NM_199334.3(THRA): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs876657395 GRCh38 Chromosome 17, 40089430: 40089430
9 THRA NM_199334.3(THRA): c.1193C> G (p.Pro398Arg) single nucleotide variant Pathogenic rs876657396 GRCh37 Chromosome 17, 38245669: 38245669
10 THRA NM_199334.3(THRA): c.1193C> G (p.Pro398Arg) single nucleotide variant Pathogenic rs876657396 GRCh38 Chromosome 17, 40089416: 40089416
11 THRA NM_001190918.1(THRA): c.1249C> T (p.Arg417Ter) single nucleotide variant Uncertain significance rs201037953 GRCh37 Chromosome 17, 38249528: 38249528
12 THRA NM_001190918.1(THRA): c.1249C> T (p.Arg417Ter) single nucleotide variant Uncertain significance rs201037953 GRCh38 Chromosome 17, 40093275: 40093275

Expression for Hypothyroidism, Congenital, Nongoitrous, 6

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 6.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 6

Pathways related to Hypothyroidism, Congenital, Nongoitrous, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.58 NR1D1 THRA

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 6

Cellular components related to Hypothyroidism, Congenital, Nongoitrous, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 NR1D1 THRA

Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.32 NR1D1 THRA
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.26 NR1D1 THRA
3 steroid hormone mediated signaling pathway GO:0043401 9.16 NR1D1 THRA
4 intracellular receptor signaling pathway GO:0030522 8.96 NR1D1 THRA
5 hormone-mediated signaling pathway GO:0009755 8.62 NR1D1 THRA

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.48 NR1D1 THRA
2 transcription factor binding GO:0008134 9.46 NR1D1 THRA
3 transcription regulatory region DNA binding GO:0044212 9.43 NR1D1 THRA
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.4 NR1D1 THRA
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.37 NR1D1 THRA
6 ligand-dependent nuclear receptor transcription coactivator activity GO:0030374 9.32 NR1D1 THRA
7 steroid hormone receptor activity GO:0003707 9.26 NR1D1 THRA
8 nuclear receptor activity GO:0004879 9.16 NR1D1 THRA
9 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 8.96 NR1D1 THRA
10 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 8.62 NR1D1 THRA

Sources for Hypothyroidism, Congenital, Nongoitrous, 6

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
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