Hepatomegaly, and Renal cyst

Diseases related with Hepatomegaly and Renal cyst

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

Top matches:

Medium match CAROLI DISEASE

Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

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 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hepatomegaly
  • Wide nasal bridge
  • Feeding difficulties in infancy


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

Other less relevant matches:

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld|autosomal dominant polycystic liver disease|adpcld

Related symptoms:

  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED POLYCYSTIC LIVER DISEASE

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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Renal cyst

Symptoms // Phenotype % cases
Dilatation Common - Between 50% and 80% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Polycystic kidney dysplasia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cholestasis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Feeding difficulties in infancy Hypertension Respiratory insufficiency Oligohydramnios Pulmonary hypoplasia Abnormality of the liver Respiratory failure Generalized neonatal hypotonia Epiphyseal stippling Enlarged kidney Multiple renal cysts Global developmental delay

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Stage 5 chronic kidney disease Portal fibrosis Absence of renal corticomedullary differentiation Abdominal pain High forehead Ascites Portal hypertension Hepatic cysts Hepatic fibrosis Cystic renal dysplasia Situs inversus totalis Esophageal varix Cholangitis Wide nasal bridge Renal insufficiency Chronic tubulointerstitial nephritis Cataract Hyperkalemic metabolic acidosis Spasticity Cryptorchidism Hyperreflexia Renal cortical microcysts Elevated serum creatinine Tubulointerstitial abnormality Oliguria Hyperechogenic kidneys Pulmonary insufficiency Cholestatic liver disease Tubulointerstitial nephritis Edema Nephronophthisis Hyperkalemia Polyuria Nephritis Polydipsia Metabolic acidosis Nephropathy Ventriculomegaly Pain Cerebellar hypoplasia Depressed nasal ridge Hypoplasia of the ear cartilage Periportal fibrosis Potter facies Hematemesis Hypersplenism Biliary tract abnormality Tubulointerstitial fibrosis Pancreatic cysts Congenital hepatic fibrosis Atelectasis Chronic lung disease Chronic kidney disease Renal hypoplasia/aplasia Abnormal lung morphology Dehydration Polydactyly Micrognathia Abnormality of the cerebral white matter Congenital cataract Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Ventricular septal defect Scarring Atrial septal defect Congestive heart failure Splenomegaly Macrotia Hepatosplenomegaly Low-set, posteriorly rotated ears Respiratory distress Renal agenesis Abnormal cardiac septum morphology Calcific stippling Polycystic liver disease Increased total bilirubin Abnormality of the pancreas Abnormality of the respiratory system Cerebral hemorrhage Elevated alkaline phosphatase Back pain Abnormality of the cardiovascular system Gastrointestinal hemorrhage Abdominal distention Abnormality of the nervous system Gastroesophageal reflux Epicanthus inversus Anteverted nares Upslanted palpebral fissure Epicanthus Hypertelorism Colpocephaly Pachygyria Severe global developmental delay Cholangiocarcinoma Liver abscess Epigastric pain Episodic fever Pruritus Vomiting Fever Failure to thrive Elevated hepatic transaminase Acidosis Bradycardia Anemia Pancreatic dysplasia Heterotaxy Agenesis of cerebellar vermis Asplenia Truncus arteriosus Femoral bowing Aortic valve stenosis Cardiomegaly Narrow chest Pulmonic stenosis Hypertrophic cardiomyopathy Talipes equinovarus Flat face Apnea Areflexia Low-set ears Large face Severe failure to thrive CNS hypomyelination Infantile muscular hypotonia Lissencephaly Severe muscular hypotonia Decreased liver function Wide anterior fontanel Large fontanelles Triangular face Polymicrogyria Azotemia


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