Hepatomegaly, and Neutropenia

Diseases related with Hepatomegaly and Neutropenia

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Neutropenia 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

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Respiratory distress
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3

Other less relevant matches:

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Neutropenia

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Failure to thrive Pancytopenia Seizures Lymphadenopathy Respiratory distress Increased antibody level in blood Autoimmune hemolytic anemia Petechiae Decreased lymphocyte apoptosis Increased IgM level Generalized hypotonia Immunodeficiency Lethargy Hyperammonemia Follicular hyperplasia Hemolytic anemia Muscular hypotonia Autoimmune thrombocytopenia Coma Vasculitis

Rare Symptoms - Less than 30% cases

Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Antineutrophil antibody positivity Antinuclear antibody positivity Chronic noninfectious lymphadenopathy Rheumatoid factor positive Platelet antibody positive Increased IgG level Coombs-positive hemolytic anemia Reduced delayed hypersensitivity Increased IgA level Antiphospholipid antibody positivity Increased proportion of HLA DR+ T cells Intellectual disability Smooth muscle antibody positivity Dehydration Extramedullary hematopoiesis Decreased methylmalonyl-CoA mutase activity Decreased adenosylcobalamin Methylmalonic acidemia Hyperglycinemia Homocystinuria Methylmalonic aciduria Ketonuria Ketosis Aciduria Recurrent infections Metabolic acidosis Feeding difficulties in infancy Acidosis Vomiting Feeding difficulties Lymphocytosis Purpura Lymphoma Leukemia Iron deficiency anemia Autoimmune neutropenia Nausea and vomiting Hemophagocytosis Renal insufficiency Urticaria Eosinophilia Recurrent bacterial infections Skin rash Pneumonia Hodgkin lymphoma Basal cell carcinoma Glomerulonephritis Hepatitis Autoimmunity Edema Carcinoma Hepatocellular carcinoma Neoplasm Abnormality of the mitochondrion Abnormality of mitochondrial metabolism Encephalopathy Ataxia Optic atrophy Dystonia Uveitis Elevated erythrocyte sedimentation rate Multiple myeloma Increased bone mineral density Congenital neutropenia Giant platelets Poikilocytosis Anisocytosis Enlarged kidney Leukopenia Increased body weight Cerebral visual impairment Generalized edema Autistic behavior Abnormality of the nervous system Blindness Hypoplasia of the corpus callosum Hearing impairment Intermediate uveitis Cervical lymphadenopathy Growth delay Chronic lymphatic leukemia Choreoathetosis Sepsis Premature graying of hair Absence of lymph node germinal center IgE deficiency Impaired memory B cell generation Hypertonia Jaundice Hyperlipidemia Hypopigmentation of hair Impaired Ig class switch recombination Iris hypopigmentation Pulmonary infiltrates Partial albinism Malar rash Gastrointestinal hemorrhage Nephrotic syndrome Reticulocytosis Increased B cell count Recurrent respiratory infections Chorea Hypofibrinogenemia Nephritis Pancreatitis Hemiplegia/hemiparesis Renal tubular dysfunction Hypertriglyceridemia Increased serum ferritin Tremor Respiratory tract infection Monocytosis Decreased antibody level in blood Lymphoproliferative disorder Recurrent upper respiratory tract infections Cardiac arrest IgA deficiency IgG deficiency Myelofibrosis


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