Hepatomegaly, and Atrial septal defect

Diseases related with Hepatomegaly and Atrial septal defect

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

Top matches:

Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Other less relevant matches:

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Atrial septal defect

Symptoms // Phenotype % cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Global developmental delay Hepatic fibrosis Renal cyst Abnormality of the kidney Splenomegaly Respiratory insufficiency Ventricular septal defect Cholestasis Congestive heart failure Hypertelorism Hypertension Seizures Enlarged kidney Hepatosplenomegaly Muscular hypotonia Epicanthus Polycystic kidney dysplasia Pancreatic cysts Decreased fetal movement Low-set ears Renal insufficiency Oligohydramnios Wide anterior fontanel Respiratory failure Hepatic failure Abnormality of the liver Triangular face

Rare Symptoms - Less than 30% cases

Renal dysplasia Stage 5 chronic kidney disease Scarring Feeding difficulties Encephalopathy Muscle weakness Coarctation of aorta Hematuria Jaundice Broad forehead Edema Pulmonic stenosis Diabetes mellitus Hydrops fetalis Situs inversus totalis Abnormal heart morphology Elevated serum creatine phosphokinase Microcephaly Prominent nose Micrognathia Abnormality of the skeletal system Cognitive impairment Hypertrophic cardiomyopathy Sepsis Dilated cardiomyopathy Metabolic acidosis Cardiomyopathy Potter facies Decreased liver function Patent foramen ovale Portal fibrosis Pulmonary hypoplasia Failure to thrive Portal hypertension Abnormal facial shape Rhabdomyolysis Hepatic cysts Depressed nasal bridge Esophageal varix Neonatal hypotonia Hernia Abnormality of glutamine metabolism Pneumonia Hearing impairment Functional respiratory abnormality Micronodular cirrhosis Ureteral atresia Sensorineural hearing impairment Recurrent infections Infra-orbital crease Long philtrum Increased serum bile acid concentration Abnormality of the clitoris Biliary cirrhosis Biventricular hypertrophy Hydronephrosis Double outlet right ventricle Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness CNS demyelination Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Abnormality of the male genitalia Anemia Thrombocytopenia Wide mouth Premature skin wrinkling Short philtrum Small for gestational age Synophrys Thin vermilion border Abnormal bleeding Asthma Pancytopenia Telangiectasia Cutis laxa Deep philtrum Poor suck Clitoral hypertrophy Dextrocardia Multiple glomerular cysts Hiatus hernia Glutaric acidemia Dark urine Pointed chin Rickets Heart murmur Long nose Renal tubular acidosis Posterior embryotoxon Exocrine pancreatic insufficiency Poor coordination Pulmonary artery stenosis Wolff-Parkinson-White syndrome Cholestatic liver disease Peripheral pulmonary artery stenosis Butterfly vertebrae Axenfeld anomaly Renal hypoplasia Flexion contracture Short neck Polydactyly Polymicrogyria Postaxial polydactyly Intestinal malrotation Dandy-Walker malformation Aortic valve stenosis Spontaneous abortion Type I diabetes mellitus Preauricular pit Polysplenia Asplenia Increased body weight Bile duct proliferation Glaucoma Sagittal craniosynostosis Hypothyroidism Osteopenia Umbilical hernia Thin upper lip vermilion Hyperlordosis Craniosynostosis Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Congenital glaucoma Congenital hypothyroidism Thoracolumbar scoliosis Buphthalmos Central hypotonia Tetralogy of Fallot Cystic renal dysplasia Pancreatic hypoplasia Pancreatic fibrosis Splenic cyst Mandibular prognathia Short sternum Proteinuria Abnormal cardiac septum morphology Retinopathy Stroke Pruritus Malabsorption Cyanosis Pigmentary retinopathy Scaphocephaly Tall stature Cholelithiasis Secundum atrial septal defect Nonketotic hypoglycemia Exercise-induced myoglobinuria Hepatocellular necrosis Exercise-induced rhabdomyolysis Cataract High palate Downslanted palpebral fissures Areflexia High forehead Severe global developmental delay Round face Epiphyseal stippling Perimembranous ventricular septal defect Respiratory arrest Right aortic arch Generalized neonatal hypotonia Respiratory distress Dilatation Macrotia Low-set, posteriorly rotated ears Dehydration Depressed nasal ridge Abnormal lung morphology Renal hypoplasia/aplasia Chronic kidney disease Multiple renal cysts Dicarboxylic aciduria Decreased plasma carnitine Atelectasis Hepatic steatosis Pain Myopathy Vomiting Behavioral abnormality Arrhythmia Hyperactivity Autism Hypoglycemia Myalgia Irritability Autistic behavior Lethargy Coma Exercise-induced myalgia Muscle cramps Sudden cardiac death Cardiomegaly Cardiac arrest Muscle stiffness Exercise intolerance Tachypnea Hyperammonemia Pericardial effusion Drowsiness Myoglobinuria Cardiorespiratory arrest Hypoketotic hypoglycemia Chronic lung disease Cholangitis Hyperbilirubinemia Abnormality of the pulmonary artery Ascites Gastrointestinal hemorrhage Venous thrombosis Hemangioma Prolonged bleeding time Microcytic anemia Cellulitis Pulmonary embolism Abnormality of the skull Hypercoagulability Lower limb asymmetry Venous insufficiency Abnormality of the menstrual cycle Intellectual disability Abnormal tricuspid valve morphology Upper limb asymmetry Internal hemorrhage Peripheral arteriovenous fistula Abnormality of skeletal morphology Short stature Wide nasal bridge Hydrocephalus Cerebral atrophy Elevated hepatic transaminase Peripheral demyelination Decreased body weight Macrocephaly Decreased activity of mitochondrial complex IV Congenital hepatic fibrosis Tremor Tubulointerstitial fibrosis Biliary tract abnormality Hypersplenism Hematemesis Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Ataxia Visual impairment Peripheral neuropathy Optic atrophy Ventriculomegaly Decreased activity of mitochondrial complex III Dystonia Feeding difficulties in infancy Peripheral axonal neuropathy Lactic acidosis Increased serum lactate Sensorimotor neuropathy Severe muscular hypotonia Ragged-red muscle fibers Apathy Optic neuropathy Severe lactic acidosis Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Pancreatic dysplasia


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