Hepatomegaly, and Sepsis

Diseases related with Hepatomegaly and Sepsis

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

Top matches:

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

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant|lad1v|leukocyte adhesion deficiency 1 variant|lad-iii|leukocyte adhesion deficiency-1 variant|iadd|leukocyte adhesion deficiency 3|integrin activation deficiency disease

Related symptoms:

  • Pain
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY TYPE III

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis|cgd

Related symptoms:

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption


SOURCES: ORPHANET MENDELIAN

More info about CHRONIC GRANULOMATOUS DISEASE

Other less relevant matches:

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

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

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

High match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Sepsis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Immunodeficiency Anemia Leukocytosis Muscular hypotonia Inflammatory abnormality of the skin Lethargy Recurrent infections Carcinoma Failure to thrive Hepatic failure Abnormality of the liver Recurrent bacterial infections Feeding difficulties

Rare Symptoms - Less than 30% cases

Otitis media Thrombocytosis Meningitis Hypoketotic hypoglycemia Conjugated hyperbilirubinemia Hypertrophic cardiomyopathy Skin rash Hepatocellular carcinoma Gingivitis Global developmental delay Autoimmunity Liver abscess Hyperbilirubinemia Hepatocellular necrosis Severe short stature Stomatitis Scaling skin Lymphadenopathy Pneumonia Hemiplegia/hemiparesis Growth delay Hepatic steatosis Respiratory distress Elevated serum creatine phosphokinase Arrhythmia Sudden cardiac death Neutropenia Coma Chronic diarrhea Choreoathetosis Pancreatitis Hyperammonemia Pruritus Cellulitis Seizures Pain Myopathy Recurrent skin infections Osteomyelitis Cardiomegaly Chronic recurrent multifocal osteomyelitis Weight loss Dysarthria Fused cervical vertebrae Fetal distress Cognitive impairment Onychomadesis Low-grade fever Neurodegeneration Cerebral vasculitis Hemolytic anemia Periostitis Intellectual disability Pustule Recurrent Burkholderia cepacia infections Chorioretinitis Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Decreased activity of NADPH oxidase Recurrent Aspergillus infections Recurrent Klebsiella infections Bladder carcinoma Recurrent Serratia marcescens infections Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Negative nitroblue tetrazolium reduction test Deficiency or absence of cytochrome b(-245) Joint swelling Respiratory insufficiency Hyperkeratosis Osteopenia Arthralgia Decreased antibody level in blood Vasculitis Osteolysis Psoriasiform dermatitis Hyperostosis Interstitial pulmonary abnormality Vertebral fusion Fragile skin Epidermal acanthosis Increased IgM level Recurrent otitis media Thyroiditis Nephrotic syndrome Abnormality of the metaphysis Thickened skin Short toe Increased body weight Shock Disproportionate short-limb short stature Eosinophilia Erythroderma Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Hashimoto thyroiditis Dry skin Severe combined immunodeficiency Hypoproteinemia Recurrent viral infections Hypoplasia of the thymus Cellular immunodeficiency Metaphyseal chondrodysplasia B lymphocytopenia Recurrent fungal infections Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Lymphoma Hypotrichosis Clumsiness Recurrent bacterial skin infections Involuntary movements Leukoencephalopathy Encephalitis IgA deficiency IgG deficiency Recurrent lower respiratory tract infections Agammaglobulinemia Cholangitis IgM deficiency Chronic hepatitis Dysgammaglobulinemia Sclerosing cholangitis Papule Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Edema Alopecia Hypothyroidism Rectal abscess Hyperlipidemia Eczematoid dermatitis Cirrhosis Mediastinal lymphadenopathy Abnormality of neutrophils Short stature Hearing impairment Sensorineural hearing impairment Areflexia Pes cavus Rod-cone dystrophy Jaundice Ophthalmoplegia Neuronal loss in central nervous system Chronic obstructive pulmonary disease Cholestasis Hepatic fibrosis Congenital sensorineural hearing impairment Malnutrition Steatorrhea Intrahepatic cholestasis Fat malabsorption Intermittent jaundice Vitamin E deficiency Civatte bodies Inflammatory abnormality of the eye Macule Intrahepatic cholestasis with episodic jaundice Osteopetrosis Optic atrophy Dystonia Renal insufficiency Nausea and vomiting Chorea Renal tubular dysfunction Abnormal bleeding Epistaxis Subcutaneous nodule Petechiae Abnormal thrombocyte morphology Hypermelanotic macule Extramedullary hematopoiesis Abnormality of the lymph nodes Decreased platelet glycoprotein IIb-IIIa Recurrent respiratory infections Malabsorption Eczema Cutaneous photosensitivity Sinusitis Skin ulcer Pyloric stenosis Tracheoesophageal fistula Increased serum bile acid concentration Muscle weakness Granulomatosis Hyperemesis gravidarum Hypertriglyceridemia Reduced tendon reflexes Loss of consciousness Renal tubular acidosis Elevated serum creatinine Nonketotic hypoglycemia Prenatal maternal abnormality Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Transient hyperlipidemia Feeding difficulties in infancy Muscular dystrophy Aspiration Recurrent pneumonia Glomerulonephritis Intestinal obstruction Pulmonary fibrosis Increased antibody level in blood Colitis Pulmonary infiltrates Peritonitis Neurological speech impairment Elevated hepatic transaminase Cardiomyopathy Rhabdomyolysis Vomiting Encephalopathy Myalgia Irritability Nephropathy Dehydration Progressive muscle weakness Cardiac arrest Tachypnea Infantile muscular hypotonia Myoglobinuria Hypoglycemia Decreased plasma carnitine Skeletal myopathy Hepatic encephalopathy Dicarboxylic aciduria Exercise-induced myoglobinuria Neonatal sepsis Generalized hypotonia Skeletal muscle atrophy Fatigue Behavioral abnormality Acidosis Severe B lymphocytopenia


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