Hypothyroidism, Congenital, Nongoitrous, 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 8

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

Name: Hypothyroidism, Congenital, Nongoitrous, 8 ⁵⁶ ²⁹ ⁶

Chng8 ⁵⁶ ¹² ⁷³

Hypothyroidism, Congenital, Non-Goitrous, 8 ⁷³

Congenital Nongoitrous Hypothyroidism 8 ¹²

Characteristics:

OMIM:

⁵⁶

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

Inheritance:
x-linked

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111837

OMIM ⁵⁶ 301033

OMIM Phenotypic Series ⁵⁶ PS275200

MeSH ⁴³ D003409

MedGen ⁴¹ CN262333

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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.

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 : 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)

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Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 8

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Hypothyroidism, Congenital, Nongoitrous, 5	Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Congenital, Nongoitrous, 8
Hypothyroidism, Congenital, Nongoitrous, 9	Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6	Hypothyroidism, Congenital, Nongoitrous, 7

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Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 8

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Head:
macrocephaly

Genitourinary Internal Genitalia Female:
secondary amenorrhea

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

Growth Height:
short stature

Abdomen Gastrointestinal:
constipation

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

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Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 8

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

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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

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Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 8

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

⁴⁰

Thyroid, Hypothalamus, Pituitary

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Publications for Hypothyroidism, Congenital, Nongoitrous, 8

Articles related to Hypothyroidism, Congenital, Nongoitrous, 8:

(showing 2, show less)

#	Title	Authors	PMID	Year
1	Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X. ⁶ ⁵⁶	Garcia M...Moreno JC	30591955	2019
2	Mutations in TBL1X Are Associated With Central Hypothyroidism. ⁶ ⁵⁶	Heinen CA...van Trotsenburg AS	27603907	2016

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Genes for Hypothyroidism, Congenital, Nongoitrous, 8

Genes related to Hypothyroidism, Congenital, Nongoitrous, 8 (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	508.47	Molecular basis known ⁵⁶ GeneCards inferred via : Variants (show sections)

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Variations for Hypothyroidism, Congenital, Nongoitrous, 8

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

⁶ (showing 6, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	TBL1X	NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)	SNV	Likely pathogenic	691491	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	X:9677297-9677297	X:9709257-9709257
5	TBL1X	NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)	SNV	Uncertain significance	691489	X:9679721-9679721	X:9711681-9711681
6	TBL1X	NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)	SNV	Uncertain significance	691490	X:9679737-9679737	X:9711697-9711697

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Expression for Hypothyroidism, Congenital, Nongoitrous, 8

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

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Pathways for Hypothyroidism, Congenital, Nongoitrous, 8

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GO Terms for Hypothyroidism, Congenital, Nongoitrous, 8

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Sources for Hypothyroidism, Congenital, Nongoitrous, 8

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypothyroidism, Congenital, Nongoitrous, 8 (CHNG8)

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 8

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

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Hypothyroidism, Congenital, Nongoitrous, 8

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 8

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 8

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 8

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 8

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

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 8

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

Publications for Hypothyroidism, Congenital, Nongoitrous, 8

Articles related to Hypothyroidism, Congenital, Nongoitrous, 8:

Genes for Hypothyroidism, Congenital, Nongoitrous, 8

Genes related to Hypothyroidism, Congenital, Nongoitrous, 8 (1 elite genes):

Variations for Hypothyroidism, Congenital, Nongoitrous, 8

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

Expression for Hypothyroidism, Congenital, Nongoitrous, 8

Pathways for Hypothyroidism, Congenital, Nongoitrous, 8

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 8

Sources for Hypothyroidism, Congenital, Nongoitrous, 8