CHNG9
MCID: HYP858
MIFTS: 18

Hypothyroidism, Congenital, Nongoitrous, 9 (CHNG9)

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

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 9

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 9:

Name: Hypothyroidism, Congenital, Nongoitrous, 9 56 6
Chng9 56 73
Hypothyroidism, Congenital, Non-Goitrous, 9 73

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
carrier females have ft4 levels in the lower half of the reference interval


Classifications:



External Ids:

OMIM 56 301035
OMIM Phenotypic Series 56 PS275200
MeSH 43 D003409
MedGen 41 CN262332

Summaries for Hypothyroidism, Congenital, Nongoitrous, 9

UniProtKB/Swiss-Prot : 73 Hypothyroidism, congenital, non-goitrous, 9: A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients have a small thyroid gland with low free T4 levels and inappropriately normal levels of thyrotropin.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 9, is also known as chng9. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 9 is IRS4 (Insulin Receptor Substrate 4). Affiliated tissues include thyroid, hypothalamus and pituitary.

OMIM : 56 Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018). (301035)

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 9

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 9

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Teeth:
delayed tooth eruption

Endocrine Features:
central hypothyroidism
small thyroid gland
low free t4 (ft4)
inappropriately normal tsh
delayed pubertal growth (rare)

Clinical features from OMIM:

301035

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 9

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 9

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 9

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 9

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 9:

40
Thyroid, Hypothalamus, Pituitary, Bone

Publications for Hypothyroidism, Congenital, Nongoitrous, 9

Articles related to Hypothyroidism, Congenital, Nongoitrous, 9:

# Title Authors PMID Year
1
Mutations in IRS4 are associated with central hypothyroidism. 56 6
30061370 2018

Variations for Hypothyroidism, Congenital, Nongoitrous, 9

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 9:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRS4 NM_003604.2(IRS4):c.643G>T (p.Gly215Ter)SNV Pathogenic 691492 X:107978932-107978932 X:108735702-108735702
2 IRS4 NM_003604.2(IRS4):c.1772dup (p.Lys592fs)duplication Pathogenic 691493 X:107977802-107977803 X:108734572-108734573
3 IRS4 NM_003604.2(IRS4):c.3161_3165del (p.Cys1054fs)deletion Pathogenic 691494 X:107976410-107976414 X:108733180-108733184

Expression for Hypothyroidism, Congenital, Nongoitrous, 9

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 9.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 9

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 9

Sources for Hypothyroidism, Congenital, Nongoitrous, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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