CHNG8
MCID: HYP857
MIFTS: 23

Hypothyroidism, Congenital, Nongoitrous, 8 (CHNG8)

Categories: Bone diseases, Ear 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 57 29 6
Chng8 57 12 73
Hypothyroidism, Congenital, Non-Goitrous, 8 73
Congenital Nongoitrous Hypothyroidism 8 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
fatigue
reduced penetrance in some families
some carrier females are affected

Inheritance:
x-linked


HPO:

31
hypothyroidism, congenital, nongoitrous, 8:
Inheritance x-linked inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111837
OMIM® 57 301033
OMIM Phenotypic Series 57 PS275200
MeSH 44 D003409

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, and related phenotypes are decreased circulating free t4 level and macrocephaly

Disease Ontology : 12 A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has material basis in heterozygous or hemizygous mutation in TBL1X on chromosome Xp22.3-p22.2.

OMIM® : 57 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) (Updated 05-Mar-2021)

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 8

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 8

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 8:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 decreased circulating free t4 level 31 very rare (1%) HP:0033078
2 macrocephaly 31 HP:0000256
3 constipation 31 HP:0002019
4 attention deficit hyperactivity disorder 31 HP:0007018
5 secondary amenorrhea 31 HP:0000869
6 hypercholesterolemia 31 HP:0003124
7 central hypothyroidism 31 HP:0011787
8 diminished ability to concentrate 31 HP:0031987
9 inappropriately normal thyroid-stimulating hormone level 31 HP:0033075

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

Genetic tests related to Hypothyroidism, Congenital, Nongoitrous, 8:

# Genetic test Affiliating Genes
1 Hypothyroidism, Congenital, Nongoitrous, 8 29 TBL1X

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 8

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

40
Thyroid, Hypothalamus, Pituitary

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. 57 6
30591955 2019
2
Mutations in TBL1X Are Associated With Central Hypothyroidism. 57 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.1015C>T (p.Arg339Ter) SNV Likely pathogenic 691491 rs1601844140 X:9661421-9661421 X:9693381-9693381
2 TBL1X NM_005647.4(TBL1X):c.1249G>A (p.Ala417Thr) SNV Uncertain significance 870340 X:9677300-9677300 X:9709260-9709260
3 TBL1X NM_005647.4(TBL1X):c.1258T>C (p.Trp420Arg) SNV Uncertain significance 870341 X:9677309-9677309 X:9709269-9709269
4 TBL1X NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) SNV Uncertain significance 691488 rs1601855785 X:9677297-9677297 X:9709257-9709257
5 TBL1X NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) SNV Uncertain significance 691489 rs1601857538 X:9679721-9679721 X:9711681-9711681
6 TBL1X NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) SNV Uncertain significance 691490 rs1601857555 X:9679737-9679737 X:9711697-9711697

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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