Hepatomegaly, and Diarrhea

Diseases related with Hepatomegaly and Diarrhea

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


Top matches:

Medium match 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY


3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY Is also known as hmgcs2 deficiency|hmg-coa synthase deficiency|mitochondrial hmg-coa synthase deficiency

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

Medium match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3


Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 Is also known as cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|mdr3 deficiency|pfic3

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

Medium match COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY


Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

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Other less relevant matches:

Medium match CHOLESTERYL ESTER STORAGE DISEASE


Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.

CHOLESTERYL ESTER STORAGE DISEASE Is also known as cholesterol ester storage disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Jaundice
  • Pruritus


SOURCES: ORPHANET MENDELIAN

More info about CHOLESTERYL ESTER STORAGE DISEASE

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2


Related symptoms:

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3


Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3 Is also known as basd3|oxysterol 7-alpha-hydroxylase deficiency

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Jaundice


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3

Medium match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2


Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2 Is also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|basd2

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Osteoporosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2

Medium 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

Medium match T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY


T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Diarrhea

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Intrahepatic cholestasis Uncommon - Between 30% and 50% cases
Hepatitis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatic failure Elevated hepatic transaminase Jaundice Pruritus Hepatosplenomegaly Coma Cholestasis Elevated alkaline phosphatase

Rare Symptoms - Less than 30% cases


Immunodeficiency Seizures Growth delay Severe combined immunodeficiency Neonatal cholestatic liver disease Biliary tract abnormality Steatorrhea Abnormality of the coagulation cascade Abnormality of the liver Portal fibrosis Giant cell hepatitis Hypoketotic hypoglycemia Malabsorption Vomiting Fever Abnormal bleeding Bloody diarrhea Chronic hepatitis Hyperhidrosis Intractable diarrhea Cognitive impairment Pili canaliculi Global developmental delay Chronic hepatic failure Pallor Uncombable hair Decreased serum iron Hypertyrosinemia Osteoporosis Prolonged prothrombin time Rickets Hyperbilirubinemia Hepatic steatosis Hyperinsulinemic hypoglycemia Lethargy Skin rash Recurrent opportunistic infections Oral ulcer Decrease in T cell count Increased body weight Recurrent otitis media Inflammatory abnormality of the skin Pancytopenia Eczema Otitis media Lymphadenopathy Cough Gastroesophageal reflux Tachycardia Vitamin B1 deficiency Abnormality of fatty-acid metabolism Pancreatic islet-cell hyperplasia Secondary growth hormone deficiency Trichorrhexis nodosa Neonatal hypoglycemia Drowsiness Agitation Large for gestational age Hyperinsulinemia Progressive neurologic deterioration Hypochromic microcytic anemia Abnormal facial shape Villous atrophy Combined immunodeficiency Adrenal calcification Arteriosclerosis Esophageal varix Hypercholesterolemia Hypertriglyceridemia Nausea and vomiting Recurrent candida infections Panhypogammaglobulinemia Eczematoid dermatitis Pneumonia Neoplasm Bile duct proliferation Portal hypertension Hypertension Hypoglycemic coma Respiratory arrest Recurrent hypoglycemia Hypoglycemia Encephalopathy Abnormality of metabolism/homeostasis Short stature Carcinoma Woolly hair Wide nasal bridge Microcytic anemia Colitis Brittle hair Chronic diarrhea Wide nose Small for gestational age Sparse hair Prominent forehead Intrauterine growth retardation Depressed nasal bridge Hepatocellular carcinoma Anemia Hypertelorism Acholic stools Congenital hepatic fibrosis Abnormality of coagulation Gastrointestinal hemorrhage Intermittent jaundice Fat malabsorption Conjugated hyperbilirubinemia Failure to thrive secondary to recurrent infections



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