MCID: HYP562
MIFTS: 24

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 53 28 13 69
Chng6 53 71
Hypothyroidism, Congenital, Non-Goitrous, 6 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
many features are present only in an untreated patient


HPO:

31
hypothyroidism, congenital, nongoitrous, 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypothyroidism, Congenital, Nongoitrous, 6

UniProtKB/Swiss-Prot : 71 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, is also known as chng6, and has symptoms including constipation, dry skin and hypertelorism. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 6 is THRA (Thyroid Hormone Receptor, Alpha). Affiliated tissues include thyroid, liver and pituitary.

Description from OMIM: 614450

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 6

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 6

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
dilated bowel
delayed intestinal transit

Head And Neck Eyes:
hypertelorism

Hematology:
anemia

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

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

Head And Neck Mouth:
macroglossia

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 dry skin 31 HP:0000958
3 hypertelorism 31 HP:0000316
4 macroglossia 31 HP:0000158
5 delayed skeletal maturation 31 HP:0002750
6 anemia 31 HP:0001903
7 delayed eruption of teeth 31 HP:0000684
8 growth delay 31 HP:0001510
9 increased body weight 31 HP:0004324
10 omphalocele 31 HP:0001539
11 congenital hip dislocation 31 HP:0001374
12 relative macrocephaly 31 HP:0004482
13 drowsiness 31 HP:0002329
14 congenital hypothyroidism 31 HP:0000851
15 thyroid hormone receptor defect 31 HP:0002930
16 increased t3/t4 ratio 31 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 28 THRA

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 6

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

38
Thyroid, Liver, Pituitary, 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:

71
# 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
# 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.1110G> C (p.Lys370Asn) single nucleotide variant Pathogenic rs137853163 GRCh37 Chromosome 17, 38245586: 38245586
3 THRA NM_199334.3(THRA): c.1176C> A (p.Cys392Ter) single nucleotide variant Pathogenic rs876657394 GRCh37 Chromosome 17, 38245652: 38245652
4 THRA NM_199334.3(THRA): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs876657395 GRCh37 Chromosome 17, 38245683: 38245683
5 THRA NM_199334.3(THRA): c.1193C> G (p.Pro398Arg) single nucleotide variant Pathogenic rs876657396 GRCh37 Chromosome 17, 38245669: 38245669

Expression for Hypothyroidism, Congenital, Nongoitrous, 6

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

Pathways for Hypothyroidism, Congenital, Nongoitrous, 6

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 6

Sources for Hypothyroidism, Congenital, Nongoitrous, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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