Hepatomegaly, and Abnormality of the kidney

Diseases related with Hepatomegaly and Abnormality of the kidney

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

Top matches:

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014).For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Abnormality of the kidney
  • Abnormality of the liver
  • Hepatic cysts


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2

Other less relevant matches:

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Hepatosplenomegaly
  • Stage 5 chronic kidney disease
  • Cholestasis


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 19; NPHP19

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever
  • Proteinuria


SOURCES: OMIM MESH MENDELIAN

More info about HEME OXYGENASE 1 DEFICIENCY; HMOX1D

Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 Is also known as frts4 with mody

Related symptoms:

  • Short stature
  • Hepatomegaly
  • Diabetes mellitus
  • Acidosis
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4

Low 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

HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abnormality of the kidney

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Growth delay Rare - less than 30% cases
Cholestasis Rare - less than 30% cases
Renal cyst Rare - less than 30% cases

Other less frequent symptoms

Patients with Hepatomegaly and Abnormality of the kidney. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Abdominal pain Vomiting Pain Respiratory distress Splenomegaly Anemia Abnormality of the liver Glomerulonephritis Renal insufficiency Thrombocytopenia Skin rash Neonatal hypoglycemia Nephrocalcinosis Metabolic acidosis Episodic fever Portal hypertension Polycystic kidney dysplasia Ascites Pruritus Aminoaciduria Hyperphosphaturia Dilatation Rickets Hypertension Large for gestational age Glycosuria Hypouricemia Liver abscess Esophageal varix Jaundice Acute hepatitis Membranous nephropathy Chronic infection Dark urine Membranoproliferative glomerulonephritis Hepatocellular carcinoma Hepatitis Cirrhosis Nausea Carcinoma Generalized neonatal hypotonia Cholangitis Colpocephaly Epiphyseal stippling Pachygyria Severe global developmental delay Feeding difficulties in infancy Wide nasal bridge Generalized hypotonia Seizures Cholangiocarcinoma Hypoglycemia Epigastric pain Elevated hepatic transaminase Abnormal myocardium morphology Acidosis Lethargy Hemiplegia/hemiparesis Hyperammonemia Pancreatitis Choreoathetosis Chorea Sepsis Coma Neutropenia Nausea and vomiting Dystonia Neoplasm Optic atrophy Muscular hypotonia Global developmental delay Intellectual disability Purpura Recurrent bacterial infections Decreased antibody level in blood Arthralgia Recurrent respiratory infections Immunodeficiency Renal tubular dysfunction Hepatic cysts Diabetes mellitus Tachycardia Short stature Ventricular flutter Left ventricular noncompaction cardiomyopathy Oliguria Pulmonary edema Left ventricular noncompaction Left ventricular hypertrophy Cardiomegaly Syncope Dilated cardiomyopathy Polycystic liver disease Dyspnea Congestive heart failure Asplenia Hematuria Hemolytic anemia Bile duct proliferation Nephronophthisis Hepatic fibrosis Stage 5 chronic kidney disease Hepatosplenomegaly Fulminant hepatitis


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