MCID: HYP762
MIFTS: 20

Hypothyroidism, Congenital, Nongoitrous, 5

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 5

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

Name: Hypothyroidism, Congenital, Nongoitrous, 5 57 29 6 73
Hypothyroidism, Congenital Nongoitrous, 5 57 13
Chng5 57 75
Hypothyroidism, Congenital, Non-Goitrous, 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypothyroidism, congenital, nongoitrous, 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypothyroidism, Congenital, Nongoitrous, 5

UniProtKB/Swiss-Prot : 75 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, also known as hypothyroidism, congenital nongoitrous, 5, is related to congenital nongoitrous hypothryoidism 5. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 5 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include thyroid, and related phenotypes are congenital hypothyroidism and growth delay

Description from OMIM: 225250

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital nongoitrous hypothryoidism 5 11.2

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 5

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 congenital hypothyroidism 32 HP:0000851
2 growth delay 32 HP:0001510
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 thyroid hypoplasia 32 HP:0005990
5 intellectual disability, progressive 32 HP:0006887
6 intellectual disability, severe 32 HP:0010864
7 ectopic thyroid 32 HP:0100028

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:

41
Thyroid

Publications for Hypothyroidism, Congenital, Nongoitrous, 5

Variations for Hypothyroidism, Congenital, Nongoitrous, 5

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

75
# 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.482G> C (p.Arg161Pro) single nucleotide variant Pathogenic rs137852685 GRCh37 Chromosome 5, 172660065: 172660065
2 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
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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