MCID: HYP562
MIFTS: 25

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 54 24 29 13 69
Chng6 24 71
Hypothyroidism, Congenital, Non-Goitrous, 6 71
Congenital Hypothyroidism, Nongoitrous 6 24

Characteristics:

OMIM:

54
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 : 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 macroglossia, anemia 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:

54

Head And Neck- Mouth:
macroglossia

Growth- Other:
growth retardation

Head And Neck- Eyes:
hypertelorism

Abdomen- Gastroin testinal:
constipation
dilated bowel
delayed intestinal transit

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

Head And Neck- Teeth:
delayed tooth eruption

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

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

Hematology:
anemia

Abdomen- External Features:
omphalocele

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

Head And Neck- Head:
relative macrocephaly

Skeletal- Pelvis:
congenital hip dislocation
absence of hip ossification centers

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

id Genetic test Affiliating Genes
1 Hypothyroidism, Congenital, Nongoitrous, 6 29
2 Congenital Hypothyroidism, Nongoitrous 6 24 THRA

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 6

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

39
Thyroid, Liver, Pituitary, Bone, Skin, Testes, Heart

Publications for Hypothyroidism, Congenital, Nongoitrous, 6

Variations for Hypothyroidism, Congenital, Nongoitrous, 6

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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