CHNG8
MCID: HYP857
MIFTS: 19

Hypothyroidism, Congenital, Nongoitrous, 8 (CHNG8)

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

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 8

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 8:

Name: Hypothyroidism, Congenital, Nongoitrous, 8 56 6
Chng8 56 73
Hypothyroidism, Congenital, Non-Goitrous, 8 73

Characteristics:

OMIM:

56
Miscellaneous:
fatigue
reduced penetrance in some families
some carrier females are affected

Inheritance:
x-linked


Classifications:



External Ids:

OMIM 56 301033
OMIM Phenotypic Series 56 PS275200
MeSH 43 D003409
MedGen 41 CN262333

Summaries for Hypothyroidism, Congenital, Nongoitrous, 8

UniProtKB/Swiss-Prot : 73 Hypothyroidism, congenital, non-goitrous, 8: A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 8, is also known as chng8. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 8 is TBL1X (Transducin Beta Like 1 X-Linked). Affiliated tissues include thyroid, hypothalamus and pituitary.

OMIM : 56 Congenital nongoitrous hypothyroidism-8 (CHNG8) is characterized by relatively mild central hypothyroidism, which may be accompanied by hearing loss in some patients (Heinen et al., 2016). (301033)

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 8

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 8

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
difficulty concentrating
attention deficit/hyperactivity disorder

Head And Neck Ears:
hearing loss, mild to profound (in some patients and carriers)

Endocrine Features:
hypoplastic thyroid
low ft4 level
inappropriately normal tsh level

Abdomen Gastrointestinal:
constipation

Genitourinary Internal Genitalia Female:
secondary amenorrhea

Growth Weight:
weight gain

Neurologic Central Nervous System:
chiari malformation, type 1 (rare)

Laboratory Abnormalities:
hypercholesterolemia <h (5 of 17 mut+)

Clinical features from OMIM:

301033

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 8

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 8

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 8

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 8

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 8:

40
Thyroid, Hypothalamus, Pituitary, Bone

Publications for Hypothyroidism, Congenital, Nongoitrous, 8

Articles related to Hypothyroidism, Congenital, Nongoitrous, 8:

# Title Authors PMID Year
1
Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X. 56 6
30591955 2019
2
Mutations in TBL1X Are Associated With Central Hypothyroidism. 56 6
27603907 2016

Variations for Hypothyroidism, Congenital, Nongoitrous, 8

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 8:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBL1X NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr)SNV Pathogenic 691488 X:9677297-9677297 X:9709257-9709257
2 TBL1X NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)SNV Pathogenic 691489 X:9679721-9679721 X:9711681-9711681
3 TBL1X NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)SNV Pathogenic 691490 X:9679737-9679737 X:9711697-9711697
4 TBL1X NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)SNV Pathogenic 691491 X:9661421-9661421 X:9693381-9693381

Expression for Hypothyroidism, Congenital, Nongoitrous, 8

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 8.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 8

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 8

Sources for Hypothyroidism, Congenital, Nongoitrous, 8

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
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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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