CHNG5
MCID: HYP762
MIFTS: 23

Hypothyroidism, Congenital, Nongoitrous, 5 (CHNG5)

Categories: Bone diseases, Ear diseases, 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 57 29 6 70
Chng5 57 12 72
Hypothyroidism, Congenital Nongoitrous, 5 57 13
Hypothyroidism, Congenital, Nongoitrous, Type 5 39
Hypothyroidism, Congenital, Non-Goitrous, 5 72
Congenital Nongoitrous Hypothyroidism 5 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hypothyroidism, congenital, nongoitrous, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070125
OMIM® 57 225250
OMIM Phenotypic Series 57 PS275200
MeSH 44 D003409
ICD10 32 E03.1
MedGen 41 C2673630
UMLS 70 C2673630

Summaries for Hypothyroidism, Congenital, Nongoitrous, 5

UniProtKB/Swiss-Prot : 72 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 heart, and related phenotypes are intellectual disability, severe and growth delay

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

More information from OMIM: 225250 PS275200

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 5

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 5

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 HP:0010864
2 growth delay 31 HP:0001510
3 intellectual disability, progressive 31 HP:0006887
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 thyroid hypoplasia 31 HP:0005990
6 congenital hypothyroidism 31 HP:0000851
7 ectopic thyroid 31 HP:0100028

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 NKX2-5

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 5

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

40
Thyroid, Heart

Publications for Hypothyroidism, Congenital, Nongoitrous, 5

Articles related to Hypothyroidism, Congenital, Nongoitrous, 5:

# Title Authors PMID Year
1
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 57 6
16418214 2006
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
3
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 6
20456451 2010
4
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 6
19948535 2010
5
NKX2.5 mutations in patients with congenital heart disease. 6
14607454 2003
6
NKX2.5 mutations in patients with tetralogy of fallot. 6
11714651 2001
7
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
8
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 6
10587520 1999

Variations for Hypothyroidism, Congenital, Nongoitrous, 5

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) SNV Pathogenic 9008 rs28936670 GRCh37: 5:172662014-172662014
GRCh38: 5:173235011-173235011
2 NKX2-5 NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) SNV Pathogenic 9018 rs137852684 GRCh37: 5:172660192-172660192
GRCh38: 5:173233189-173233189
3 NKX2-5 NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) SNV Pathogenic 9019 rs137852685 GRCh37: 5:172660065-172660065
GRCh38: 5:173233062-173233062

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

72
# Symbol AA change Variation ID SNP ID
1 NKX2-5 p.Ala119Ser VAR_047869 rs137852684
2 NKX2-5 p.Arg161Pro VAR_047870 rs137852685

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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