Hepatomegaly, and Behavioral abnormality

Diseases related with Hepatomegaly and Behavioral abnormality

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


Top matches:

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3 Is also known as naga deficiency type 3|schindler disease type 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3

Low match FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY


Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

Low match HYPERINSULINISM DUE TO UCP2 DEFICIENCY


HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

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Other less relevant matches:

Low match ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS


Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS Is also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS

Low match GLYCOGEN STORAGE DISEASE IXB; GSD9B


GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Low match ISOLATED BILIARY ATRESIA


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

Low match HYPERINSULINISM DUE TO HNF1A DEFICIENCY


Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Low match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4


BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

Low match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY


Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Low match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY


Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Behavioral abnormality

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Drowsiness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Coma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Behavioral abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tachycardia Diarrhea Lethargy Neonatal hypoglycemia Irritability Elevated hepatic transaminase Hyperbilirubinemia Hyperinsulinemic hypoglycemia Abnormality of fatty-acid metabolism Agitation Pancreatic islet-cell hyperplasia Hypoketotic hypoglycemia Hyperhidrosis Pallor Progressive neurologic deterioration Hyperinsulinemia Large for gestational age Cognitive impairment Vitamin B1 deficiency Secondary growth hormone deficiency Intellectual disability Jaundice Hepatic failure Failure to thrive Cirrhosis Generalized hypotonia

Rare Symptoms - Less than 30% cases


Abnormality of the coagulation cascade Conjugated hyperbilirubinemia Fatigue Scarring Cholestasis Increased body weight Microcephaly Decreased circulating cortisol level Abdominal distention Abnormal brain FDG positron emission tomography Hypoglycemia Metabolic acidosis Ketosis Lactic acidosis Acidosis Intrahepatic biliary atresia Acholic stools Unconjugated hyperbilirubinemia Increased total bilirubin Dark urine Biliary atresia Portal fibrosis Bile duct proliferation Increased urinary glycerol Asplenia Right ventricular hypertrophy Portal hypertension Autism Situs inversus totalis Hypertrophic cardiomyopathy Ventricular hypertrophy Intestinal malrotation Abnormal cardiac septum morphology Patent ductus arteriosus Polysplenia Atretic gallbladder Extrahepatic biliary duct atresia Hepatitis Strabismus Cataract Giant cell hepatitis Fat malabsorption Intrahepatic cholestasis Prolonged neonatal jaundice Steatorrhea Hypergonadotropic hypogonadism Single transverse palmar crease Hypertension Malabsorption Abnormality of the liver Depressivity Frontal bossing Epicanthus Fasting hypoglycemia Neonatal hypotonia Tremor Ventricular septal defect Recurrent hypoglycemia Increased muscle glycogen content Ascites Hypersplenism Microvesicular hepatic steatosis Apnea Acute hepatic failure Mitochondrial myopathy Hypoalbuminemia Aciduria Increased serum lactate Hepatic steatosis Short stature Tachypnea Feeding difficulties in infancy Hyperuricemia Hyperventilation Myopathy Feeding difficulties Severe lactic acidosis Neonatal hyperbilirubinemia Macrovesicular hepatic steatosis Muscle weakness Increased hepatic glycogen content Hypertriglyceridemia Exercise-induced myalgia Impaired gluconeogenesis Myoglobinuria Hypercholesterolemia Exercise intolerance Muscle stiffness Decreased liver function Progressive muscle weakness Muscle cramps Pain Muscular hypotonia Nausea Nausea and vomiting Fever Myalgia Headache Dyspnea Skeletal muscle atrophy Mitochondrial respiratory chain defects



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