Heterotaxy, Visceral, 7, Autosomal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Heterotaxy, Visceral, 7, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 7, Autosomal:

Name: Heterotaxy, Visceral, 7, Autosomal ⁵⁷ ⁷⁵ ²⁹

Htx7 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
some patients may be asymptomatic
spectrum of laterality defects

HPO:

³²

heterotaxy, visceral, 7, autosomal:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616749

MedGen ⁴² C4225217 CN235018

MeSH ⁴⁴ D059446

SNOMED-CT via HPO ⁶⁹ 258211005 253366007 405752007 more

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Summaries for Heterotaxy, Visceral, 7, Autosomal

UniProtKB/Swiss-Prot : ⁷⁵ Heterotaxy, visceral, 7, autosomal: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive.

MalaCards based summary : Heterotaxy, Visceral, 7, Autosomal, is also known as htx7. An important gene associated with Heterotaxy, Visceral, 7, Autosomal is MMP21 (Matrix Metallopeptidase 21). Affiliated tissues include heart, liver and lung, and related phenotypes are atrial septal defect and intestinal malrotation

OMIM : ⁵⁷ Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (616749)

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Related Diseases for Heterotaxy, Visceral, 7, Autosomal

Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 5, Autosomal	Heterotaxy, Visceral, 2, Autosomal
Heterotaxy, Visceral, 3, Autosomal	Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 6, Autosomal	Heterotaxy, Visceral, 7, Autosomal
Heterotaxy, Visceral, 8, Autosomal

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Symptoms & Phenotypes for Heterotaxy, Visceral, 7, Autosomal

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Gastrointestinal:
intestinal malrotation

Abdomen Spleen:
polysplenia

Abdomen Liver:
midline liver

Respiratory Lung:
pulmonary isomerism

Cardiovascular Heart:
dextrocardia
atrioventricular canal defect
transposition of the great arteries
septal defects
total anomalous pulmonary venous return
more

Abdomen:
situs inversus
situs ambiguus

Cardiovascular Vascular:
interrupted vena cava drainage

Skin Nails Hair Skin:
cyanosis due to congenital heart defect

Clinical features from OMIM:

616749

Human phenotypes related to Heterotaxy, Visceral, 7, Autosomal:

³² (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	atrial septal defect ³²		HP:0001631
2	intestinal malrotation ³²		HP:0002566
3	situs inversus totalis ³²		HP:0001696
4	atrioventricular canal defect ³²		HP:0006695
5	transposition of the great arteries ³²	very rare (1%)	HP:0001669
6	interrupted aortic arch ³²		HP:0011611
7	mitral atresia ³²	very rare (1%)	HP:0011560
8	polysplenia ³²		HP:0001748
9	pulmonary artery hypoplasia ³²	very rare (1%)	HP:0004971
10	pulmonary artery atresia ³²		HP:0004935
11	hypoplasia of right ventricle ³²		HP:0004762
12	heterotaxy ³²		HP:0030853
13	right aortic arch ³²	very rare (1%)	HP:0012020
14	common atrium ³²		HP:0011565
15	total anomalous pulmonary venous return ³²		HP:0005160
16	abnormal aortic valve morphology ³²	very rare (1%)	HP:0001646
17	abnormal tricuspid valve morphology ³²	very rare (1%)	HP:0001702
18	interrupted inferior vena cava with azygous continuation ³²		HP:0011671

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Drugs & Therapeutics for Heterotaxy, Visceral, 7, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 7, Autosomal

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Genetic Tests for Heterotaxy, Visceral, 7, Autosomal

Genetic tests related to Heterotaxy, Visceral, 7, Autosomal:

#	Genetic test	Affiliating Genes
1	Heterotaxy, Visceral, 7, Autosomal ²⁹	MMP21

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Anatomical Context for Heterotaxy, Visceral, 7, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 7, Autosomal:

⁴¹

Heart, Liver, Lung, Spleen

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Publications for Heterotaxy, Visceral, 7, Autosomal

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Genes for Heterotaxy, Visceral, 7, Autosomal

Genes related to Heterotaxy, Visceral, 7, Autosomal (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MMP21	Matrix Metallopeptidase 21	Protein Coding	928.67	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Heterotaxy, Visceral, 7, Autosomal

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 7, Autosomal:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MMP21	p.Arg31Trp	VAR_076319	rs746379956
2	MMP21	p.Glu215Lys	VAR_076320	rs145789868
3	MMP21	p.Ile226Thr	VAR_076321	rs781127723
4	MMP21	p.His283Tyr	VAR_076322	rs143482986
5	MMP21	p.Ile285Thr	VAR_076323	rs747668147
6	MMP21	p.Ala321Pro	VAR_076324	rs773125891
7	MMP21	p.Arg360Cys	VAR_076325	rs946722250
8	MMP21	p.Arg375His	VAR_076326

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Expression for Heterotaxy, Visceral, 7, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 7, Autosomal.

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Pathways for Heterotaxy, Visceral, 7, Autosomal

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GO Terms for Heterotaxy, Visceral, 7, Autosomal

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Heterotaxy, Visceral, 7, Autosomal (HTX7)

Aliases & Classifications for Heterotaxy, Visceral, 7, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 7, Autosomal:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Heterotaxy, Visceral, 7, Autosomal

Related Diseases for Heterotaxy, Visceral, 7, Autosomal

Diseases in the Visceral Heterotaxy family:

Symptoms & Phenotypes for Heterotaxy, Visceral, 7, Autosomal

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Heterotaxy, Visceral, 7, Autosomal:

Drugs & Therapeutics for Heterotaxy, Visceral, 7, Autosomal

Genetic Tests for Heterotaxy, Visceral, 7, Autosomal

Genetic tests related to Heterotaxy, Visceral, 7, Autosomal:

Anatomical Context for Heterotaxy, Visceral, 7, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 7, Autosomal:

Publications for Heterotaxy, Visceral, 7, Autosomal

Genes for Heterotaxy, Visceral, 7, Autosomal

Genes related to Heterotaxy, Visceral, 7, Autosomal (1 elite genes):

Variations for Heterotaxy, Visceral, 7, Autosomal

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 7, Autosomal:

Expression for Heterotaxy, Visceral, 7, Autosomal

Pathways for Heterotaxy, Visceral, 7, Autosomal

GO Terms for Heterotaxy, Visceral, 7, Autosomal

Sources for Heterotaxy, Visceral, 7, Autosomal