MCID: HYP354
MIFTS: 21

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 54 24 13
Hypothyroidism, Congenital, Nongoitrous, 5 29 69
Hypothyroidism, Congenital, Non-Goitrous, 5 71
Chng5 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Hypothyroidism, Congenital Nongoitrous, 5

UniProtKB/Swiss-Prot : 71 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 hypothyroidism, congenital, nongoitrous, 5, and has symptoms including intellectual disability, severe, ectopic thyroid and congenital hypothyroidism. An important gene associated with Hypothyroidism, Congenital Nongoitrous, 5 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include thyroid.

Description from OMIM: 225250

Related Diseases for Hypothyroidism, Congenital Nongoitrous, 5

Symptoms & Phenotypes for Hypothyroidism, Congenital Nongoitrous, 5

Symptoms via clinical synopsis from OMIM:

54

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

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

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

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


Clinical features from OMIM:

225250

Human phenotypes related to Hypothyroidism, Congenital Nongoitrous, 5:

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

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:

id Genetic test Affiliating Genes
1 Hypothyroidism, Congenital, Nongoitrous, 5 29
2 Hypothyroidism, Congenital Nongoitrous, 5 24 NKX2-5

Anatomical Context for Hypothyroidism, Congenital Nongoitrous, 5

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

39
Thyroid

Publications for Hypothyroidism, Congenital Nongoitrous, 5

Variations for Hypothyroidism, Congenital Nongoitrous, 5

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

71
id 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
id 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

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
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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