Hepatomegaly, and Ventricular septal defect

Diseases related with Hepatomegaly and Ventricular septal defect

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

Top matches:

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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ISOLATED BILIARY ATRESIA Is also known as isolated atresia of bile ducts|non-syndromic biliary atresia

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED BILIARY ATRESIA

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Other less relevant matches:

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

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

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

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

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

Symptoms // Phenotype % cases
Splenomegaly Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Enlarged kidney Abnormality of the face Abdominal wall defect Macroglossia Cholestasis Oligohydramnios Respiratory insufficiency Micrognathia Hepatic fibrosis Polydactyly Umbilical hernia Atrial septal defect Cryptorchidism

Rare Symptoms - Less than 30% cases

Inguinal hernia Generalized hypotonia Thoracic dysplasia Hepatosplenomegaly Cleft palate Stage 5 chronic kidney disease Renal cyst Lateral clavicle hook Dehydration Short long bone Hypoglycemia Omphalocele Renal insufficiency Hemihypertrophy Prominent nose High palate Low-set ears Auricular pit Embryonal neoplasm Anterior creases of earlobe Visceromegaly Diastasis recti Respiratory distress Nevus flammeus Neonatal hypoglycemia Large for gestational age Abnormality of the outer ear Pulmonary hypoplasia Overgrowth Premature birth Short ribs Postaxial polydactyly Oral cleft Portal fibrosis Muscular hypotonia Cataract Jaundice Severe global developmental delay Epiphyseal stippling Generalized neonatal hypotonia Hypertension Intrauterine growth retardation Scarring Cirrhosis Hepatic failure Abnormality of earlobe Situs inversus totalis Portal hypertension Congestive heart failure Chronic kidney disease Short stature Cleft lip Depressed nasal bridge Polyhydramnios Brachydactyly Neonatal respiratory distress Prominent occiput Visual field defect Nephronophthisis Retinal dystrophy Retinal degeneration Precocious puberty Cerebellar vermis hypoplasia Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Global developmental delay Shallow orbits Visual loss Obesity Intellectual disability Oculomotor apraxia Blindness Hydrocephalus Cone-shaped epiphysis Nyctalopia Ventriculomegaly Abnormality of the skeletal system Abnormality of the placenta Thoracic hypoplasia Labial hypertrophy Postaxial hand polydactyly Neonatal insulin-dependent diabetes mellitus Small anterior fontanelle Genu valgum Rhizomelia Glucose intolerance Hypoplastic fingernail Short phalanx of finger Synophrys Growth delay Coarse facial features Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Strabismus Hypospadias Apnea Dextrocardia Psoriasiform dermatitis Supernumerary nipple Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Tethered cord Prune belly Premature skin wrinkling Clitoral hypertrophy Abnormal facial shape Triangular face Anemia Edema Thrombocytopenia Hydronephrosis Wide mouth Short philtrum Small for gestational age Cardiomegaly Thin vermilion border Abnormal bleeding Patent foramen ovale Asthma Coarctation of aorta Pancytopenia Telangiectasia Wide anterior fontanel Decreased liver function Hydrops fetalis Cutis laxa Deep philtrum Poor suck Gingival overgrowth Respiratory failure Generalized myoclonic seizures Pancreatic fibrosis Atretic gallbladder Macrocephaly Syndactyly Narrow chest Ambiguous genitalia Preaxial polydactyly Femoral bowing Acetabular spurs Intrahepatic biliary atresia Neoplasm Muscle weakness Delayed speech and language development Clinodactyly Abnormal heart morphology Micropenis Autistic behavior Facial asymmetry Extrahepatic biliary duct atresia Acholic stools Abnormality of the ureter Increased body weight Feeding difficulties in infancy Glossoptosis Elevated hepatic transaminase Irritability Abnormal cardiac septum morphology Intestinal malrotation Ventricular hypertrophy Hyperbilirubinemia Unconjugated hyperbilirubinemia Right ventricular hypertrophy Polysplenia Asplenia Conjugated hyperbilirubinemia Bile duct proliferation Biliary atresia Dark urine Increased total bilirubin Nephroblastoma Rhabdomyosarcoma Postnatal growth retardation Biliary tract abnormality Atelectasis Esophageal varix Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hepatic cysts Tubulointerstitial fibrosis Hypersplenism Multiple renal cysts Hematemesis Potter facies Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Retrognathia Joint laxity Chronic lung disease Polycystic kidney dysplasia Hypertelorism Decreased fetal movement Feeding difficulties Epicanthus Downslanted palpebral fissures Areflexia High forehead Broad forehead Pulmonic stenosis Round face Secundum atrial septal defect Renal hypoplasia/aplasia Perimembranous ventricular septal defect Right aortic arch Dilatation Macrotia Low-set, posteriorly rotated ears Abnormality of the liver Depressed nasal ridge Abnormal lung morphology Postauricular pit


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Muscle cramps, related diseases and genetic alterations Autoimmunity and Myoclonus, related diseases and genetic alterations