Ventricular septal defect, and Insulin resistance

Diseases related with Ventricular septal defect and Insulin resistance

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


Top matches:

Medium match PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6


Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Medium match PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME


Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Low match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

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Other less relevant matches:

Low match PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME


Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Low match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Low match CYSTIC FIBROSIS


Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Low match HYPOPLASTIC LEFT HEART SYNDROME


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.

HYPOPLASTIC LEFT HEART SYNDROME Is also known as hlhs

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASTIC LEFT HEART SYNDROME

Low match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Insulin resistance

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Microcephaly Hypertension Micrognathia Seizures Feeding difficulties Neonatal hypotonia Talipes equinovarus Ileus Elevated hepatic transaminase Acanthosis nigricans Hyperglycemia Recurrent infections Abnormal facial shape Growth delay Neonatal insulin-dependent diabetes mellitus Atrial septal defect Dehydration Congestive heart failure Dilatation Hepatomegaly Ventricular hypertrophy Postnatal growth retardation Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Gastroesophageal reflux Optic disc pallor Scoliosis Postaxial polydactyly Hirsutism Abnormality of the pinna Hyperlordosis Hypoglycemia Pes planus Meconium ileus Narrow mouth Constipation Epidermal acanthosis Peripheral neuropathy Depressed nasal bridge Low-set ears Ptosis Nystagmus Hypertelorism Maternal diabetes Hearing impairment Coarctation of aorta Nephrocalcinosis Thin skin Short stature Reduced subcutaneous adipose tissue Atrial fibrillation Palpitations Severe short stature Hepatic steatosis Hypertriglyceridemia Tachycardia Glucose intolerance Pain Joint stiffness Vomiting Muscle weakness Optic atrophy Flexion contracture Muscle stiffness Arrhythmia Dysphagia Ventricular arrhythmia Ketoacidosis Polycystic ovaries Pancreatitis Sparse and thin eyebrow Generalized hypotonia Abdominal distention Intestinal malrotation Exocrine pancreatic insufficiency Umbilical hernia Precocious puberty Abnormality of the skeletal system Glycosuria Truncus arteriosus Transposition of the great arteries High palate Tetralogy of Fallot Abnormal heart morphology Neonatal respiratory distress Oligohydramnios Abnormal cardiac septum morphology Falls Atlantoaxial instability Congenital generalized lipodystrophy Peripheral axonal neuropathy Vertigo Abnormality of movement Unsteady gait Abnormality of upper lip Dysmetria Lower limb muscle weakness Abnormality of eye movement Abnormality of the foot Limb muscle weakness Dilated cardiomyopathy Abnormal pyramidal sign Pallor Polymorphic ventricular tachycardia Pointed chin Abnormal levels of creatine kinase in blood Intention tremor Spastic gait Limb ataxia Prominent superficial veins Exercise-induced myalgia Lower limb spasticity Left ventricular hypertrophy Involuntary movements Clumsiness Generalized lipodystrophy Prolonged QTc interval Peripheral demyelination Fasting hyperinsulinemia Sensory impairment Chorea Chest pain Atlantoaxial dislocation Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Sensory neuropathy Inability to walk Hypertrophic cardiomyopathy Difficulty walking Prominent umbilicus Abnormality of cardiovascular system morphology Pulmonary artery atresia Double outlet right ventricle Hypoparathyroidism Submucous cleft hard palate Broad hallux Nasal speech Hypocalcemia Short palpebral fissure Bifid uvula Abnormality of metabolism/homeostasis Intellectual disability, mild Aortopulmonary window Cleft palate Aortic valve atresia Mitral atresia Hypoplastic aortic arch Abnormality of chromosome segregation Mitral stenosis Hypoplastic left heart Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Complete atrioventricular canal defect Anomalous origin of one pulmonary artery from ascending aorta Supraventricular tachycardia Depressivity Kyphoscoliosis Reduced visual acuity Gait ataxia Cerebral cortical atrophy Hyperactivity Pes cavus Babinski sign Areflexia Generalized muscle hypertrophy Visual loss Kyphosis Muscle mounding Dystonia Cerebellar atrophy Cardiomyopathy Cervical spine instability Fatigue Gait disturbance Dysarthria Visual impairment Spasticity Abnormality of skeletal muscle fiber size Ataxia Truncal ataxia Slurred speech Paraparesis Spinal cord posterior columns myelin loss Delayed skeletal maturation Elevated serum creatine phosphokinase Failure to thrive in infancy Splenomegaly Myopathy Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Ventricular fibrillation Skeletal muscle hypertrophy Osteoporosis Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Cutis marmorata Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Lipodystrophy Hypothyroidism Increased variability in muscle fiber diameter Spastic paraplegia Long eyelashes Growth hormone deficiency Sudden cardiac death Generalized muscle weakness Exercise intolerance Recurrent bacterial infections Accelerated skeletal maturation Hyperlipidemia Atherosclerosis Ventricular tachycardia Delayed gross motor development Osteopenia Muscular dystrophy Reduced bone mineral density Pyloric stenosis Distal muscle weakness Prominent supraorbital ridges Protruding ear Hyperinsulinemia Myalgia Proximal muscle weakness Rigidity Hepatosplenomegaly Abnormality of the autonomic nervous system Incomprehensible speech Spastic paraparesis Thoracic scoliosis Protuberant abdomen Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Urinary bladder sphincter dysfunction Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Progressive proximal muscle weakness Optic neuropathy Spinocerebellar tract degeneration Hyperactive deep tendon reflexes Visual field defect Decreased motor nerve conduction velocity Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Bradycardia Reduced tendon reflexes Hyposmia IgA deficiency Upper limb amyotrophy Absent vas deferens Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Mildly elevated creatine phosphokinase Gait imbalance Prolonged QT interval Spinal rigidity Lower limb amyotrophy Abnormal echocardiogram Lipoatrophy Poor fine motor coordination T-wave inversion Secondary amenorrhea Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Elevated sweat chloride Nausea Obstructive azoospermia Brachycephaly Muscular hypotonia of the trunk Proteinuria Abnormality of the nervous system Conductive hearing impairment Thin upper lip vermilion Coarse facial features Macrotia Mandibular prognathia Hyperkeratosis Polydactyly Upslanted palpebral fissure Abnormality of the kidney Prominent forehead Posteriorly rotated ears Clinodactyly of the 5th finger Absent speech Short nose Intellectual disability, severe Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Myopia Brachydactyly Telecanthus Feeding difficulties in infancy Motor delay Hypertrichosis Sparse eyebrow Poor suck Coarse hair Abnormality of the outer ear Narrow palate Generalized hirsutism Narrow face Preauricular skin tag Wide anterior fontanel Dental crowding Fine hair Sparse hair Microcornea Single transverse palmar crease Thick vermilion border Iris coloboma Long face Dry skin Astigmatism Smooth philtrum Carious teeth Coloboma Blepharophimosis Epicanthus Muscular hypotonia Metatarsus adductus Abdominal wall defect Hepatitis Gliosis Pulmonic stenosis Small for gestational age Inguinal hernia Hernia Cerebral atrophy Abnormality of the placenta Labial hypertrophy Small anterior fontanelle Abnormality of earlobe Cardiac arrest Hypoplastic fingernail Shallow orbits Prominent occiput Gingival overgrowth Abnormality of the face Cardiomegaly Prominent nose Generalized myoclonic seizures Macroglossia Joint laxity Retrognathia Congenital diaphragmatic hernia Hyperbilirubinemia Strabismus Microcolon Total absence of the pericardium Colon perforation Congenital defect of the pericardium Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Intermittent diarrhea Patent foramen ovale Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Interrupted aortic arch Ureteral duplication Prolonged partial thromboplastin time Mild microcephaly Single umbilical artery Pulmonary artery stenosis Congenital hypothyroidism Clitoral hypertrophy Abnormality of the thyroid gland Recurrent bronchopulmonary infections Cirrhosis Hypercalciuria Tachypnea Azoospermia Recurrent pneumonia Sinusitis Bronchiectasis Abnormal lung morphology Decreased antibody level in blood Asthma Dyskinesia Cryptorchidism Clubbing Infertility Delayed puberty Malabsorption Cough Scarring Abnormality of the liver Respiratory tract infection Carcinoma Respiratory failure Abdominal pain Recurrent respiratory infections Portal hypertension Intestinal obstruction Diarrhea Allergy Pancreatic adenocarcinoma Productive cough Obstructive lung disease Secretory diarrhea Chronic pancreatitis Chronic infection Nasal polyposis Rectal prolapse Pneumothorax Biliary cirrhosis Abnormality of the pancreas Emphysema Cor pulmonale Chronic obstructive pulmonary disease Chronic lung disease Neoplasm of the pancreas Hemoptysis Wheezing Bronchitis Male infertility Steatorrhea Malnutrition Pulmonary fibrosis Immunodeficiency Neoplasm Prematurely aged appearance Abnormality of the upper urinary tract Obesity Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Diastema Apnea Advanced eruption of teeth Hypocholesterolemia Long penis Thick nail Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Bell-shaped thorax Growth hormone excess Cerebellar hypoplasia Pectus carinatum Elevated serum alanine aminotransferase Microretrognathia Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Acute pancreatitis Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Skin tags Insulin-resistant diabetes mellitus Slender long bone Cone-shaped epiphysis Aortic aneurysm Metaphyseal widening Retinal detachment Talipes Aplasia/Hypoplasia of the pancreas Cerebellar agenesis Secundum atrial septal defect Overlapping fingers Severe intrauterine growth retardation Bilateral talipes equinovarus Optic nerve hypoplasia Short chin Type II diabetes mellitus Convex nasal ridge Triangular face Adipose tissue loss



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Tetralogy of Fallot, related diseases and genetic alterations

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