Ventricular septal defect, and Respiratory tract infection

Diseases related with Ventricular septal defect and Respiratory tract infection

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Respiratory tract infection that can help you solving undiagnosed cases.

Top matches:

FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.

FADD-RELATED IMMUNODEFICIENCY Is also known as fadd deficiency

Related symptoms:

  • Seizures
  • Fever
  • Ventricular septal defect
  • Cerebral atrophy
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about FADD-RELATED IMMUNODEFICIENCY

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Other less relevant matches:

Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.

SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME Is also known as congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|sam syndrome|severe dermatitis, multiple allergies, and metabolic wasting syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by 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 (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Respiratory tract infection

Symptoms // Phenotype % cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Abnormal cardiac septum morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Ventricular septal defect and Respiratory tract infection. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia Growth delay Pulmonary artery atresia Immunodeficiency Microcephaly Respiratory failure Abnormal heart morphology Pulmonic stenosis Failure to thrive Muscle weakness Patent ductus arteriosus Recurrent infections

Rare Symptoms - Less than 30% cases

Recurrent pneumonia Heart murmur Hernia Respiratory insufficiency Skeletal muscle atrophy Abnormal lung morphology Fever Decreased fetal movement Paralysis Anemia Generalized hypotonia Cardiomegaly Ventriculomegaly Abnormality of cardiovascular system morphology Arrhythmia Hypertelorism Dyspnea Intellectual disability Intrauterine growth retardation Recurrent skin infections Recurrent lower respiratory tract infections Double outlet right ventricle Asthma Pulmonary artery hypoplasia Aciduria Meningitis Aminoaciduria Neutropenia Hip dysplasia Megaloblastic anemia Abnormality of the ureter Abnormal toenail morphology Anisocytosis Abnormality of the liver Poikilocytosis Impaired T cell function Oroticaciduria Folate-unresponsive megaloblastic anemia Hematuria Common atrium Low-set, posteriorly rotated ears Duodenal atresia Situs inversus totalis Holoprosencephaly Dextrocardia Ciliary dyskinesia Transposition of the great arteries Abnormal lung lobation Myelomeningocele Polysplenia Asplenia Abdominal situs inversus Splenomegaly Heterotaxy Biliary atresia Pyrimidine-responsive megaloblastic anemia Single ventricle Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Wide nasal bridge Downslanted palpebral fissures Orotic acid crystalluria Congenital diaphragmatic hernia Reduced orotidine 5-prime phosphate decarboxylase activity Underdeveloped supraorbital ridges Cyanosis Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Sinusitis Increased body weight Easy fatigability Clubbing Preauricular pit Polycythemia Poor appetite Dolichocephaly Hyperventilation Truncus arteriosus Right ventricular hypertrophy Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Thin vermilion border Broad forehead Short stature Pachygyria Micrognathia Low-set ears Talipes equinovarus Polyhydramnios Protruding ear Small for gestational age Long face Convex nasal ridge Ambiguous genitalia Renal agenesis Hypertrichosis Recurrent urinary tract infections Proptosis Narrow face Multicystic kidney dysplasia Clitoral hypertrophy Cortical gyral simplification Scaphocephaly Chronic lung disease Cryptorchidism Brachydactyly Congestive heart failure Clinodactyly Clinodactyly of the 5th finger Oligohydramnios Seizures Intestinal malrotation Parkinsonism with favorable response to dopaminergic medication Chorea Choreoathetosis Infantile muscular hypotonia Hyperkinesis Neonatal respiratory distress Athetosis Interstitial pulmonary abnormality Abnormality of the thyroid gland Congenital hypothyroidism Increased thyroid-stimulating hormone level Abnormality of movement Compensated hypothyroidism Thyroid dysgenesis Papule Hypotrichosis Malabsorption Palmoplantar keratoderma Sepsis Inflammatory abnormality of the skin Psoriasiform dermatitis Erythroderma Sleep disturbance Apnea Esophagitis Nephrotic syndrome Cerebral atrophy Encephalopathy Elevated hepatic transaminase Generalized-onset seizure Cholestasis Decreased liver function Hepatic fibrosis Autoimmune antibody positivity Nephropathy Verrucae Difficulty walking Enterocolitis Membranous nephropathy Recurrent abscess formation Ataxia Muscular hypotonia Motor delay Dysarthria Dystonia Gait ataxia Hypothyroidism Congenital ichthyosiform erythroderma Hypergranulosis Dyskinesia Tetraparesis Abnormal mitochondrial number Scoliosis Flexion contracture Abnormality of the skeletal system Areflexia Umbilical hernia Proximal muscle weakness Joint laxity Muscular hypotonia of the trunk Spinal muscular atrophy Abnormal cardiac atrium morphology Axonal degeneration EMG: neuropathic changes Proximal amyotrophy Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Proximal muscle weakness in lower limbs Cleft palate Cerebellar hypoplasia Anal atresia Abnormality of the pulmonary veins Abnormal ventricular filling Acantholysis Eosinophilia Orthokeratosis Hypernatremia Cardiomyopathy Edema Myopathy Dilatation Abnormality of metabolism/homeostasis Inability to walk Ascites Syncope Atrioventricular block Histiocytoid cardiomyopathy Myocardial fibrosis Restrictive cardiomyopathy Abnormal myocardium morphology Pulmonary edema Myofibrillar myopathy Endocardial fibroelastosis Skeletal myopathy Abnormality of the mitochondrion Abnormal left ventricle morphology Abnormality of cardiovascular system physiology Absence of the pulmonary valve


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