NKX2-5 gene related symptoms and diseases

All the information presented here about the NKX2-5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to NKX2-5 gene

Symptoms // Phenotype	% Cases
Ventricular septal defect	Uncommon - Between 30% and 50% cases
Abnormal heart morphology	Uncommon - Between 30% and 50% cases
Arrhythmia	Uncommon - Between 30% and 50% cases
Growth delay	Rare - less than 30% cases
Atrial septal defect	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with NKX2-5 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Hypoplastic left heart
Muscle weakness
Tetralogy of Fallot
Abnormal cardiac septum morphology
Abnormality of cardiovascular system morphology
Global developmental delay
Abnormality of metabolism/homeostasis
Double outlet right ventricle

And 165 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NKX2-5 gene

Here you will find a list of rare diseases related to the NKX2-5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Alternate names

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT Is also known as familial lev disease, familial lenÈgre disease, familial lev-lenÈgre disease, pfhbib, hereditary bundle branch defect, familial pccd, familial progressive heart block

Description

Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Arrhythmia
Abnormal heart morphology
Abdominal pain
Dyspnea
Vertigo

More info about FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

SOURCES: OMIM ORPHANET

TETRALOGY OF FALLOT

Description

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Most common symptoms of TETRALOGY OF FALLOT

Growth delay
Muscle weakness
Cryptorchidism
Anemia
Brachydactyly

More info about TETRALOGY OF FALLOT

SOURCES: OMIM MESH ORPHANET

FAMILIAL BICUSPID AORTIC VALVE

Alternate names

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of, aortic stenosis, calcific, aortic valve, bicuspid, familial bav, bav, bicuspid aortic valve, aortic valve disease

Description

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Most common symptoms of FAMILIAL BICUSPID AORTIC VALVE

Hypertension
Fever
Ventricular septal defect
Cardiomyopathy
Atrial septal defect

More info about FAMILIAL BICUSPID AORTIC VALVE

SOURCES: ORPHANET OMIM

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE

Alternate names

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE Is also known as asd, ostium secundum type

More info about ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE

SOURCES: ORPHANET

CONOTRUNCAL HEART MALFORMATIONS; CTHM

Most common symptoms of CONOTRUNCAL HEART MALFORMATIONS; CTHM

Intellectual disability
Global developmental delay
Hypertelorism
Cleft palate
Depressed nasal bridge

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

SOURCES: OMIM

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

Most common symptoms of HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

Growth delay
Intellectual disability, severe
Abnormality of metabolism/homeostasis
Intellectual disability, progressive
Congenital hypothyroidism

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

SOURCES: OMIM MESH

ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

Alternate names

ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME Is also known as asd with or without atrioventricular conduction defects

Description

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.

Most common symptoms of ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

Ventricular septal defect
Atrial septal defect
Arrhythmia
Abnormal heart morphology
Abnormal cardiac septum morphology

More info about ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

SOURCES: OMIM ORPHANET

HYPOPLASTIC LEFT HEART SYNDROME

Alternate names

HYPOPLASTIC LEFT HEART SYNDROME Is also known as hlhs

Description

Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.

Most common symptoms of HYPOPLASTIC LEFT HEART SYNDROME

Ventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Hypoplastic left heart
Maternal diabetes

More info about HYPOPLASTIC LEFT HEART SYNDROME

SOURCES: OMIM ORPHANET

FAMILIAL ATRIAL FIBRILLATION

Alternate names

FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant

Description

Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

Pain
Respiratory distress
Arrhythmia
Stroke
Dilated cardiomyopathy

More info about FAMILIAL ATRIAL FIBRILLATION

SOURCES: OMIM MESH ORPHANET

FAMILIAL ISOLATED CONGENITAL ASPLENIA

Alternate names

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia, asplenia, familial, hyposplenia, isolated congenital

Description

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

Most common symptoms of FAMILIAL ISOLATED CONGENITAL ASPLENIA

Fever
Vomiting
Immunodeficiency
Abnormality of metabolism/homeostasis
Sepsis

More info about FAMILIAL ISOLATED CONGENITAL ASPLENIA

SOURCES: OMIM ORPHANET MESH

VENTRICULAR SEPTAL DEFECT 3; VSD3

Description

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7 ), tetralogy of Fallot (see TOF, {187500}), conotruncal malformations (see {217095}), and hypoplastic left heart syndrome (HLHS2 ).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Most common symptoms of VENTRICULAR SEPTAL DEFECT 3; VSD3

Hypertension
Ventricular septal defect
Atrial septal defect
Congestive heart failure
Abnormality of cardiovascular system morphology

More info about VENTRICULAR SEPTAL DEFECT 3; VSD3

SOURCES: OMIM

DELETION 5Q35

Alternate names

DELETION 5Q35 Is also known as telomeric deletion 5q, distal 5q deletion, del (5)(qter), del (5)(q35), monosomy 5q35

Description

Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.

More info about DELETION 5Q35

SOURCES: ORPHANET

THYROID ECTOPIA

Description

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Most common symptoms of THYROID ECTOPIA

Global developmental delay
Short stature
Growth delay
Muscle weakness
Muscular hypotonia

More info about THYROID ECTOPIA

SOURCES: ORPHANET

ATHYREOSIS

Description

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Most common symptoms of ATHYREOSIS

Global developmental delay
Short stature
Growth delay
Muscle weakness
Muscular hypotonia

More info about ATHYREOSIS

SOURCES: ORPHANET

Search interest in NKX2-5

Potential gene panels for NKX2-5 gene

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

NKX2-5 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NKX2-5 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to NKX2-5 gene

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Alternate names

Description

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

TETRALOGY OF FALLOT

Description

Most common symptoms of TETRALOGY OF FALLOT

FAMILIAL BICUSPID AORTIC VALVE

Alternate names

Description

Most common symptoms of FAMILIAL BICUSPID AORTIC VALVE

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE

Alternate names

CONOTRUNCAL HEART MALFORMATIONS; CTHM

Most common symptoms of CONOTRUNCAL HEART MALFORMATIONS; CTHM

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

Most common symptoms of HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

Alternate names

Description

Most common symptoms of ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

HYPOPLASTIC LEFT HEART SYNDROME

Alternate names

Description

Most common symptoms of HYPOPLASTIC LEFT HEART SYNDROME

FAMILIAL ATRIAL FIBRILLATION

Alternate names

Description

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

FAMILIAL ISOLATED CONGENITAL ASPLENIA

Alternate names

Description

Most common symptoms of FAMILIAL ISOLATED CONGENITAL ASPLENIA

VENTRICULAR SEPTAL DEFECT 3; VSD3

Description

Most common symptoms of VENTRICULAR SEPTAL DEFECT 3; VSD3

DELETION 5Q35

Alternate names

Description

THYROID ECTOPIA

Description

Most common symptoms of THYROID ECTOPIA

ATHYREOSIS

Description

Most common symptoms of ATHYREOSIS

Search interest in NKX2-5

Potential gene panels for NKX2-5 gene

Comprehensive Cardiac Panel Panel

Ciliopathies Panel

Heterotaxia Panel

Atrioventricular Block Panel Panel

Congenital Heart Disease Panel Panel

NKX2.5 Sequencing Panel

Heterotaxy V2 Panel Panel

NKX2.5 sequencing Panel

NKX2.5 deletion/duplication analysis Panel

NKX2-5 Panel

Comprehensive Arrhythmia Panel Panel

CardioNext with TTN Panel

CMNext with TTN Panel

CustomNext: Cardio Panel

DCMNext with TTN Panel

RhythmNext Panel

RhythmFirst reflex RhythmNext Panel

NKX2-5 mutation analysis Panel

NKX2-5. Complete sequencing Panel

Atrial septal defect 7, with or without AV conduction defects (sequence analysis of NKX2-5 gene) Panel

Isolated Nonsyndromic Congenital Heart Disease/Defects Panel

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel

Isolated Nonsyndromic Congenital Heart Defects via NKX2-5 Gene Sequencing with CNV Detection Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

Ciliopathy Sequencing Panel with CNV Detection Panel