Hepatomegaly, and Colitis

Diseases related with Hepatomegaly and Colitis

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

Top matches:

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

Related symptoms:

  • Failure to thrive
  • Pain
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

High match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Other less relevant matches:

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2 Is also known as ncf2, deficiency of|granulomatous disease, chronic, due to ncf2 deficiency|cgd, autosomal recessive cytochrome b-positive, type ii|neutrophil cytosol factor 2, deficiency of|p67-phox, deficiency of

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

Top 5 symptoms//phenotypes associated to Hepatomegaly and Colitis

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Enterocolitis Seizures Diarrhea Hepatosplenomegaly Generalized hypotonia Abdominal pain Gastrointestinal hemorrhage Growth delay Pancreatitis Intellectual disability Muscular hypotonia Renal insufficiency Global developmental delay Vomiting Recurrent pneumonia Lymphadenopathy Pain Recurrent infections Osteopenia Elevated hepatic transaminase Immunodeficiency Hypertelorism Cirrhosis Hepatitis

Rare Symptoms - Less than 30% cases

Recurrent bacterial skin infections Recurrent Aspergillus infections Decreased activity of NADPH oxidase Recurrent Staphylococcus aureus infections Lymphadenitis Discoid lupus rash Liver abscess Rectal abscess Granulomatosis Eczematoid dermatitis Recurrent Serratia marcescens infections Peritonitis Cellulitis Cataract Osteomyelitis Intestinal obstruction Arthritis Aspiration Sepsis Decreased muscle mass Carcinoma Recurrent Klebsiella infections Neoplasm Recurrent E. coli infections Hypertension Depressivity Congestive heart failure Fever Ascites Cholestasis Abdominal distention Portal hypertension Inflammation of the large intestine Amyloidosis Uveitis Absence of bactericidal oxidative respiratory burst in phagocytes Aciduria Pallor Acidosis Cerebellar atrophy Nystagmus Ataxia Hepatocellular carcinoma Frontal bossing Osteoporosis Recurrent Burkholderia cepacia infections Dehydration Negative nitroblue tetrazolium reduction test Depressed nasal bridge Hepatic steatosis Hepatic fibrosis Abnormal facial shape Chronic hepatitis Lipemia retinalis Villous atrophy Abnormal bleeding Hypoglycemia Hypoalbuminemia Hyperlipidemia Hypertriglyceridemia Hepatic failure Chronic diarrhea High forehead Polyhydramnios Upslanted palpebral fissure Serositis Delayed skeletal maturation Visual loss Pectus excavatum Hypospadias Retrognathia Nyctalopia Neonatal hypotonia Neutrophilia Progressive visual loss Neuritis Gliosis Porokeratosis Erysipelas Renal cyst Polymicrogyria Long philtrum Talipes Abnormality of the cerebral white matter Dolichocephaly Optic neuritis Cervical lymphadenopathy Severe global developmental delay Feeding difficulties in infancy Dilatation Optic atrophy Hypoplasia of the corpus callosum Doll-like facies Xanthomatosis Neoplasm of the liver Breathing dysregulation Fasting hypoglycemia Skeletal myopathy Pyelonephritis Hypoglycemic seizures Microalbuminuria Xanthelasma Intermittent diarrhea Decreased glomerular filtration rate Hepatoblastoma Chronic pancreatitis Distal renal tubular acidosis Hepatocellular adenoma Ventriculomegaly Visual impairment Talipes equinovarus Pharyngitis Split hand Macrocephaly Skeletal muscle atrophy Epicanthus High palate Hypocitraturia Low-set ears Respiratory tract infection Perianal abscess Strabismus Micrognathia Hearing impairment Peripheral demyelination Large fontanelles Increased IgA level Eczema Hypermelanotic macule Flexion contracture Leukocytosis Enlarged kidney Apathy Blindness Urticaria Purpura Conjunctivitis Vasculitis Headache Long eyelashes Nephrotic syndrome Optic disc pallor Migraine Scoliosis Constipation Limitation of joint mobility Rod-cone dystrophy Hyperhidrosis Retinal dystrophy Nausea Arthralgia Myalgia Vertigo Infertility Postnatal growth retardation Papule Cough Erythema Elevated erythrocyte sedimentation rate Microcephaly Heterotopia Cortical dysplasia Chills Pachygyria Skin rash Recurrent aphthous stomatitis Large forehead Acrocyanosis Posterior subcapsular cataract Poor coordination Progressive hearing impairment Decreased nerve conduction velocity Hammertoe Aplasia/Hypoplasia of the cerebellum Delayed cranial suture closure Thoracic hypoplasia Primary adrenal insufficiency Generalized cerebral atrophy/hypoplasia Peripheral visual field loss Subcapsular cataract Calcific stippling Fetal ascites Renal cortical microcysts Episodic fever Chylous ascites Cerebral hypoplasia Scaphocephaly Cerebral dysmyelination Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Gout Vitamin D deficiency Protuberant abdomen Chorioretinitis Microvesicular hepatic steatosis Intestinal lymphangiectasia Secretory diarrhea Reduced antithrombin III activity Reduced factor XI activity Lymphangiectasis Thrombocytopenia Muscular dystrophy Inflammatory abnormality of the skin Recurrent skin infections Glomerulonephritis Pulmonary fibrosis Increased antibody level in blood Pulmonary infiltrates Bladder carcinoma Abnormal thrombosis Deficiency or absence of cytochrome b(-245) Feeding difficulties Gait disturbance Respiratory distress Behavioral abnormality Dystonia Cerebral cortical atrophy Abnormality of the nervous system Lethargy Anorexia Intracranial hemorrhage Megaloblastic anemia Increased mean corpuscular volume Methylmalonic aciduria Type I transferrin isoform profile Protein-losing enteropathy Homocystinuria Uncombable hair Wide nasal bridge Intrauterine growth retardation Prominent forehead Sparse hair Small for gestational age Wide nose Brittle hair Microcytic anemia Woolly hair Trichorrhexis nodosa Hypochromic microcytic anemia Bloody diarrhea Intractable diarrhea Pili canaliculi Decreased serum iron Congenital hepatic fibrosis Coma Generalized edema Hypoproteinemia Hyperinsulinemic hypoglycemia Abnormality of the coagulation cascade Abnormal intestine morphology Lymphedema Malabsorption Abnormality of the cardiovascular system Apnea Edema Increased circulating chylomicron concentration Eruptive xanthomas Acute pancreatitis Hyperlipoproteinemia Spastic ataxia Methylmalonic acidemia Renal tubular acidosis Nephropathy Polyclonal elevation of IgM Spider hemangioma Abnormal large intestine physiology Neoplasm of the gallbladder Recurrent systemic pyogenic infections Dilated superficial abdominal veins Adenocarcinoma of the large intestine Short stature Cognitive impairment Myopathy Recurrent respiratory infections Proteinuria Delayed puberty Lactic acidosis Hematuria Palmar telangiectasia Metabolic acidosis Full cheeks Epistaxis Nephrolithiasis Nephrocalcinosis Atherosclerosis Venous thrombosis Chronic kidney disease Hypercalciuria Elevated alkaline phosphatase Glomerulosclerosis Focal segmental glomerulosclerosis Prolonged bleeding time Hyperuricemia Elevated alkaline phosphatase of hepatic origin Abnormal biliary tract morphology Hyperhomocystinemia Pleural effusion Decreased methylcobalamin Megaloblastic bone marrow Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Encephalopathy Weight loss Jaundice Scarring Autoimmunity Pruritus Type I diabetes mellitus Cholelithiasis Generalized amyotrophy Chronic hepatic failure Histiocytosis Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Prolonged prothrombin time Abnormality of the thyroid gland Cholangitis Cholestatic liver disease Ulcerative colitis Acute hepatic failure Thyroiditis Celiac disease Lung abscess


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