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 ⁷² ²⁹ ⁶

Htx7 ⁵⁷ ⁷²

Heterotaxy, Visceral, Autosomal, Type 7 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
some patients may be asymptomatic
spectrum of laterality defects

HPO:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616749

OMIM Phenotypic Series ⁵⁷ PS306955

MeSH ⁴⁴ D059446

MedGen ⁴¹ C4225217 CN235018

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Summaries for Heterotaxy, Visceral, 7, Autosomal

UniProtKB/Swiss-Prot : ⁷² 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 be 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 spleen, heart and liver, and related phenotypes are abnormal aortic valve morphology and abnormal tricuspid valve morphology

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) (Updated 05-Apr-2021)

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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

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

³¹ (show all 19)

#	Description	HPO Frequency	HPO Source Accession
1	abnormal aortic valve morphology ³¹	very rare (1%)	HP:0001646
2	abnormal tricuspid valve morphology ³¹	very rare (1%)	HP:0001702
3	transposition of the great arteries ³¹	very rare (1%)	HP:0001669
4	mitral atresia ³¹	very rare (1%)	HP:0011560
5	pulmonary artery hypoplasia ³¹	very rare (1%)	HP:0004971
6	right aortic arch ³¹	very rare (1%)	HP:0012020
7	atrial septal defect ³¹		HP:0001631
8	interrupted aortic arch ³¹		HP:0011611
9	intestinal malrotation ³¹		HP:0002566
10	situs inversus totalis ³¹		HP:0001696
11	atrioventricular canal defect ³¹		HP:0006695
12	cyanosis ³¹		HP:0000961
13	polysplenia ³¹		HP:0001748
14	pulmonary artery atresia ³¹		HP:0004935
15	common atrium ³¹		HP:0011565
16	hypoplasia of right ventricle ³¹		HP:0004762
17	heterotaxy ³¹		HP:0030853
18	interrupted inferior vena cava with azygous continuation ³¹		HP:0011671
19	total anomalous pulmonary venous return ³¹		HP:0005160

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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
total anomalous pulmonary venous return
septal defects
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 (Updated 05-Apr-2021)

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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:

⁴⁰

Spleen, Heart, Liver

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Publications for Heterotaxy, Visceral, 7, Autosomal

Articles related to Heterotaxy, Visceral, 7, Autosomal:

#	Title	Authors	PMID	Year
1	A human laterality disorder caused by a homozygous deleterious mutation in MMP21. ⁵⁷	Perles Z...Katsanis N	26429889	2015
2	Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. ⁵⁷	Akawi N...DDD study	26437029	2015
3	MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. ⁵⁷	Guimier A...Gordon CT	26437028	2015
4	Global genetic analysis in mice unveils central role for cilia in congenital heart disease. ⁵⁷	Li Y...Lo CW	25807483	2015

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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	PubMed IDs
1	MMP21	Matrix Metallopeptidase 21	Protein Coding	1343.32	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Heterotaxy, Visceral, 7, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 7, Autosomal:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MMP21	NM_147191.1(MMP21):c.643G>A (p.Glu215Lys)	SNV	Pathogenic	545547	rs145789868	GRCh37: 10:127462454-127462454 GRCh38: 10:125773885-125773885
2	MMP21	NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)	SNV	Pathogenic	265317	rs145119918	GRCh37: 10:127456139-127456139 GRCh38: 10:125767570-125767570
3	MMP21	NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	SNV	Pathogenic	289001	rs137955225	GRCh37: 10:127458937-127458937 GRCh38: 10:125770368-125770368
4	MMP21	NM_147191.1(MMP21):c.557G>T (p.Ser186Ile)	SNV	Likely pathogenic	545548	rs1312300020	GRCh37: 10:127462540-127462540 GRCh38: 10:125773971-125773971
5	MMP21	NM_147191.1(MMP21):c.281G>C (p.Arg94Pro)	SNV	Likely pathogenic	976665		GRCh37: 10:127462816-127462816 GRCh38: 10:125774247-125774247
6	MMP21	NM_147191.1(MMP21):c.1123C>T (p.Arg375Cys)	SNV	Uncertain significance	1027776		GRCh37: 10:127459017-127459017 GRCh38: 10:125770448-125770448
7	MMP21	NM_147191.1(MMP21):c.890C>T (p.Thr297Met)	SNV	Uncertain significance	1027777		GRCh37: 10:127460876-127460876 GRCh38: 10:125772307-125772307

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

⁷²

#	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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⁷³ Wikipedia

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Articles related to 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

ClinVar genetic disease 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