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Gene: Smcr8 MGI:2444720

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
Synonyms:
D030073L15Rik,  2310076G09Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Smcr8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Smcr8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm... OMIM:269840
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Decreased circula... OMIM:619281
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:158061
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... OMIM:604416
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Skin rash, Hepatomegaly OMIM:619175
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab... OMIM:620282
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Enlar... OMIM:209950
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... OMIM:607594
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... OMIM:618935
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Fe... ORPHA:98813
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Increase... OMIM:603552
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diar... OMIM:618495
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... OMIM:611762
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis... OMIM:240500
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... ORPHA:2686
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloint... ORPHA:37042
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,... ORPHA:277
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T ly... OMIM:616433
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis OMIM:614480
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Abdominal pain... ORPHA:2137
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... OMIM:613011
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... ORPHA:859
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Nephritis, Eleva... OMIM:603909
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Hypergalactosemia OMIM:230350
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi... OMIM:214900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis... OMIM:616005
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE... OMIM:606843
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esopha... ORPHA:75234
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul... ORPHA:178320
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... OMIM:620010
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly OMIM:617068
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitryp... OMIM:613490
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties ORPHA:79238
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, ... OMIM:608106
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Splenom... OMIM:615895
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent skin infections, Splenomegaly, Cleft palate, Leukopenia, Dec... OMIM:620210
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatiti... OMIM:614602
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ... ORPHA:90051
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... OMIM:613179
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Pyloric stenosis, Hyperammonemia ORPHA:664
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... OMIM:615387
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... ORPHA:391487
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circu... OMIM:614034
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Elevated circul... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chr... OMIM:614576
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosi... ORPHA:90038
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Azoospermia, Arthritis,... OMIM:602390
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphade... ORPHA:79477
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Immunodeficiency 54
Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:609981
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Splenomegaly, Thrombocytopeni... OMIM:617591
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Feedin... ORPHA:79312
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Diarrhea, In... OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... OMIM:300908
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Increased mean pla... ORPHA:84064
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad... ORPHA:3226
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... OMIM:606367
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Hyperbilirubinemia, Ste... OMIM:235555
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Lymphaden... OMIM:260920
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ... OMIM:301000
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu... ORPHA:158048
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card... OMIM:201475
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenome... ORPHA:567983
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Cold Agglutinin Disease
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia... ORPHA:171
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,... ORPHA:39041
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Bone marrow hypo... ORPHA:391
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnormal intrahepatic bile duct morph... ORPHA:562639
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn... ORPHA:47612
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... ORPHA:824
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... ORPHA:379
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome... ORPHA:1572
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Episodic abdominal pain, Lact... OMIM:238600
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Inflammation ... OMIM:232220
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr... ORPHA:1451
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom... OMIM:257200
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, High pala... ORPHA:443811
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Increased circulating interleukin... ORPHA:160
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Thrombocytopenia OMIM:615085
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatic failure, Hepatitis, Steat... OMIM:613812
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Splenomegaly, Thromboc... OMIM:603553
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Protruding tongue, Malabsorption... ORPHA:2268
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice... ORPHA:549
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Increased circulating ferritin concentr... OMIM:235200
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, G... ORPHA:809
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Anemia... OMIM:170100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa... ORPHA:79259
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediast... ORPHA:91138
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Thrombocytopen... ORPHA:77259
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Splenomegaly, Thrombocytopenia, Gia... OMIM:210250
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Plague
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Sple... ORPHA:707
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... ORPHA:1304
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, High palate, ... OMIM:605309
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Splenic infarction, J... OMIM:603903
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp... OMIM:181000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein conce... OMIM:612852
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Lymp... ORPHA:83317
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Feeding ... OMIM:251880
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Ascit... OMIM:606812
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdomi... ORPHA:3452
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic... OMIM:618641
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor... ORPHA:33577
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... ORPHA:169090
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Splenome... ORPHA:781
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo... ORPHA:342
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh... ORPHA:677
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Skin rash, ... ORPHA:50918
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflamm... OMIM:232240
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Anorexi... ORPHA:33226
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... OMIM:253260
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... OMIM:608233
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Splenomegaly, Thrombocytopenia, Increased... OMIM:222700
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, Elevated circ... OMIM:276700
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Jaundice, ... OMIM:613471
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Constipat... OMIM:239200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia... OMIM:612541
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest... ORPHA:30391
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas... OMIM:612301
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Increased circulating I... ORPHA:99827
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... ORPHA:565612
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Hypoca... OMIM:619991
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Inflammation of the large i... ORPHA:70591
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Biliary cirrhosis, Thyroiditis, Gastrointestinal angiodyspla... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Biliary cirrhosis, Thyroiditis, Gastrointestinal angiodyspla... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Biliary cirrhosis, Thyroiditis, Gastrointestinal angiodyspla... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Biliary cirrhosis, Thyroiditis, Gastrointestinal angiodyspla... ORPHA:99226
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Asplenia, Cryptorchidism, Gastrointestinal dysmotility... ORPHA:2152

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smcr8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smcr8.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis. Autophagy (December 2019) Smcr8tm1.1(KOMP)Vlcg 31847700
Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models. Human molecular genetics (December 2019) Smcr8tm1(KOMP)Vlcg Smcr8tm1.1(KOMP)Vlcg 31625563
A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Science advances (September 2016) Smcr8tm1(KOMP)Vlcg Smcr8tm1.1(KOMP)Vlcg PMC5010369

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Smcr8tm464163(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Smcr8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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