CHNG5
MCID: HYP762
MIFTS: 20

Hypothyroidism, Congenital, Nongoitrous, 5 (CHNG5)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 5

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 5:

Name: Hypothyroidism, Congenital, Nongoitrous, 5 58 30 6 74
Chng5 58 12 76
Hypothyroidism, Congenital Nongoitrous, 5 58 13
Hypothyroidism, Congenital, Non-Goitrous, 5 76
Congenital Nongoitrous Hypothyroidism 5 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypothyroidism, congenital, nongoitrous, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070125
OMIM 58 225250
MeSH 45 D003409
ICD10 34 E03.1
MedGen 43 C2673630
UMLS 74 C2673630

Summaries for Hypothyroidism, Congenital, Nongoitrous, 5

UniProtKB/Swiss-Prot : 76 Hypothyroidism, congenital, non-goitrous, 5: A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 5, is also known as chng5. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 5 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include thyroid, and related phenotypes are intellectual disability, severe and abnormality of metabolism/homeostasis

Disease Ontology : 12 A congenital hypothyroidism that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

Description from OMIM: 225250

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 5

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 5

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 5:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 33 HP:0010864
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 growth delay 33 HP:0001510
4 intellectual disability, progressive 33 HP:0006887
5 thyroid hypoplasia 33 HP:0005990
6 congenital hypothyroidism 33 HP:0000851
7 ectopic thyroid 33 HP:0100028

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
growth retardation, severe (if untreated)

Endocrine Features:
hypothyroidism, nongoitrous
hypoplastic thyroid gland
ectopic thyroid gland

Neurologic Central Nervous System:
mental retardation, severe (if untreated)

Laboratory Abnormalities:
increased tsh
decreased free t(3)/free t(4)

Clinical features from OMIM:

225250

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 5

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 5

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 5

Genetic tests related to Hypothyroidism, Congenital, Nongoitrous, 5:

# Genetic test Affiliating Genes
1 Hypothyroidism, Congenital, Nongoitrous, 5 30 NKX2-5

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 5

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 5:

42
Thyroid

Publications for Hypothyroidism, Congenital, Nongoitrous, 5

Variations for Hypothyroidism, Congenital, Nongoitrous, 5

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 5:

76
# Symbol AA change Variation ID SNP ID
1 NKX2-5 p.Ala119Ser VAR_047869 rs137852684
2 NKX2-5 p.Arg161Pro VAR_047870 rs137852685

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.73C> T (p.Arg25Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28936670 GRCh37 Chromosome 5, 172662014: 172662014
2 NKX2-5 NM_004387.3(NKX2-5): c.73C> T (p.Arg25Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28936670 GRCh38 Chromosome 5, 173235011: 173235011
3 NKX2-5 NM_004387.3(NKX2-5): c.355G> T (p.Ala119Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852684 GRCh37 Chromosome 5, 172660192: 172660192
4 NKX2-5 NM_004387.3(NKX2-5): c.355G> T (p.Ala119Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852684 GRCh38 Chromosome 5, 173233189: 173233189
5 NKX2-5 NM_004387.3(NKX2-5): c.482G> C (p.Arg161Pro) single nucleotide variant Pathogenic rs137852685 GRCh37 Chromosome 5, 172660065: 172660065
6 NKX2-5 NM_004387.3(NKX2-5): c.482G> C (p.Arg161Pro) single nucleotide variant Pathogenic rs137852685 GRCh38 Chromosome 5, 173233062: 173233062

Expression for Hypothyroidism, Congenital, Nongoitrous, 5

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 5.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 5

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 5

Sources for Hypothyroidism, Congenital, Nongoitrous, 5

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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