Gene Summary

DEAD/H box helicase 58
6430573D20Rik,  RIG-I,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 58

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Ddx58em1(IMPC)Mbp HOM Early adult 0.00
impaired glucose tolerance Ddx58em1(IMPC)Mbp HOM Early adult 2.71×10-06
small liver Ddx58em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Ddx58em1(IMPC)Mbp HOM Early adult 1.64×10-25

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.


XRay Images Whole Body Dorso Ventral

54 Images

Eye Morphology

Images Slit Lamp

2 Images


XRay Images Whole Body Lateral Orientation

18 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Ddx58 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.

The table below shows human diseases associated to Ddx58 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Singleton-Merten Syndrome 2

The table below shows human diseases predicted to be associated to Ddx58 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, B-cell lym... OMIM:619164
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, C... OMIM:616005
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia... ORPHA:98849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary ... OMIM:608971
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Weight loss, Splenomegaly, B-cell lymphoma, Abnormality of the gastroi... ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... OMIM:300635
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... OMIM:615767
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... OMIM:618969
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, T lymp... OMIM:618108
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, ... OMIM:616871
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Immunodeficiency 19
Diarrhea, Recurrent otitis media, Lymphopenia, Failure to thrive OMIM:615617
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Familial Thrombocytosis
Thrombocytosis, Myelodysplasia, Weight loss, Chronic myelogenous leukemia, Splenomegaly, Acute my... ORPHA:71493
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... OMIM:615897
Combined Immunodeficiency Due To Zap70 Deficiency
Stomatitis, Lymphadenopathy, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, ... ORPHA:911
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Absent tonsils, Lack of T cel... ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Failure to thrive, Recurrent otitis... OMIM:618495
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anorexia, Hepatomegaly, Cachexia, Lymphadenopathy, Hemangioma, Anem... ORPHA:824
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Nausea and vomiting, Hepatomegaly, Anorexia, Acute leukemia, Chronic leukemia, Splenomegaly, Sarc... ORPHA:98292
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Reduced natural killer cell ... OMIM:616050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Failure to thrive, Splenomegaly, Panhypogammaglob... OMIM:269840
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Failure to thrive, T lymphocytopenia, Failure to thrive secondary t... OMIM:601457
Aggressive Systemic Mastocytosis
Neutropenia, Leukemia, Lymphadenopathy, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hyperspl... ORPHA:98850
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, B-cell lymphoma, Splenomegaly OMIM:619437
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Hodgkin lymphoma, Decreased CD69 upregulation upon TCR activation, B... OMIM:300853
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... ORPHA:3243
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Thrombocytopenia, Colitis OMIM:616744
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anorexia, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopath... OMIM:209950
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increase... ORPHA:100024
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Sarcoma, M... ORPHA:66661
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... ORPHA:86841
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Leukocytosis, Hepatomegaly, Acute leukemia, Chronic otitis media, Lymphadeno... ORPHA:3226
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Decreased circulating antibody ... ORPHA:33355
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... OMIM:619041
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Skin r... OMIM:618963
Unclassified Myelodysplastic Syndrome
Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute... ORPHA:98827
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Lymphadenopathy, Abscess, Recurrent tonsillitis, Splenomegaly, Granuloma, ... OMIM:618935
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Lymphoproliferative disorder, Splenomegaly, Autoimmune hemolytic anem... ORPHA:90033
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Lymphadenopathy, Weight loss, Lymphoma, Splenomegaly, Breast carcinoma, B... ORPHA:86893
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Failure to ... OMIM:617718
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Bronchiectas... OMIM:618534
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... ORPHA:906
Immunodeficiency 40
Lymphopenia OMIM:616433
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Barr... ORPHA:70482
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Anal atresi... OMIM:605724
Caspase 8 Deficiency
Eczema, Pneumonia, Lymphadenopathy, Failure to thrive, Decreased circulating IgA level, Decreased... OMIM:607271
Immunodeficiency 8
Hyperactivity OMIM:615401
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... OMIM:614172
Immunodeficiency 85 And Autoimmunity
Eczema, Tube feeding, Erythroderma, Villous atrophy, Vomiting, Failure to thrive in infancy, Decr... OMIM:619510
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Neutropenia, Biliary t... OMIM:209920
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... OMIM:615190
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Neutropenia, Lymphadenopathy, Failure to thrive, Increased circulating IgA level, I... ORPHA:169154
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Eosinophilia, Ne... ORPHA:486
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Colitis, Failure to thrive, ... OMIM:608809
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Monoclonal elevation of circulating I... ORPHA:91139
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... ORPHA:524
Cyclic Neutropenia
Sinusitis, Peritonitis, Lymphadenopathy, Decreased eosinophil count, Recurrent tonsillitis, Perio... ORPHA:2686
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Immunodeficiency 17
Eczema, Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Decreased propo... OMIM:615607
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Aplastic anemia OMIM:614743
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia... OMIM:618999
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Cutaneo... OMIM:600802
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Burkitt lymphoma, Fulminant ... OMIM:308240
Amed Syndrome, Digenic
Myelodysplasia, Leukopenia, Failure to thrive, Bone marrow hypocellularity, Anemia, Acute myeloid... OMIM:619151
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anorexia, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic l... ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Anal canal squamous carcin... ORPHA:217390
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Feeding difficulties, Weight loss, Splenomegaly, Jaundice ORPHA:79238
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Ascites, Lymphadenopathy, Weight loss, ... ORPHA:26790
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Weight loss, Malabso... ORPHA:42642
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absence of spe... OMIM:618986
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Lymphoma,... OMIM:619126
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... OMIM:150550
Hodgkin Lymphoma
Hepatomegaly, Anorexia, Lymphadenopathy, Weight loss, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Celiac dis... OMIM:619375
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, Neoplasm of the central... ORPHA:83469
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... ORPHA:99867
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Decreased proport... OMIM:615518
Hepatomegaly, Anorexia, Leukopenia, Rhinitis, Lymphadenopathy, Weight loss, Anemia, Splenomegaly,... ORPHA:507
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Lymphadenopathy, Decreased circula... OMIM:616100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hereditary Spherocytosis
Hepatomegaly, Abdominal distention, Gout, Anemia, Cholelithiasis, Splenomegaly, Maculopapular exa... ORPHA:822
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Myelodysplasia, Anemia, Bone marrow hypocellularity, Myeloid leukemi... OMIM:614742
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... OMIM:259710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Neutropenia in ... ORPHA:37042
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Infectious encephalitis, Erythroderma, Neutropenia, Lymphadenopathy, Reduced natura... ORPHA:540
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Failure... OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Ascites, Weight loss, An... ORPHA:2070
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Hepatocellular carcinoma, Erythroid hyperplasia, Elevated hepatic iro... ORPHA:231222
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Failure to thrive in infancy, Small for gestational age, Feeding difficulties, Hypoplasia... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Thrombocyt... OMIM:603552
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myelodysplasia, Myositis, Increased circulating ant... ORPHA:48104
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Lung abscess, Protracted diarrhea, Gast... ORPHA:67
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia OMIM:610247
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Lymphadenopathy, Abnormality of ... ORPHA:79456
Wolman Disease
Nausea and vomiting, Hepatomegaly, Cachexia, Esophageal varix, Ascites, Abdominal distention, Ane... ORPHA:75233
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... OMIM:266600
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Lymphoma, Splenomegaly, Increased... ORPHA:37748
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Cholesteatoma, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disea... OMIM:619381
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph... ORPHA:54251
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neutropil antibo... ORPHA:572
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
N Syndrome
Leukemia, Neoplasm OMIM:310465
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Villous atrophy, Failure to thr... OMIM:606367
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Diarrhea, Jaundice, Absent tonsils, Lymph node hypo... ORPHA:276
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... OMIM:259720
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Lymphoproliferative Syndrome 2
Hepatomegaly, Hodgkin lymphoma, Ascites, Lymphoproliferative disorder, Lymphadenopathy, Decreased... OMIM:615122
Burkitt Lymphoma
Nausea and vomiting, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of th... ORPHA:543
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... OMIM:618261
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal larg... ORPHA:2198
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Indolent Systemic Mastocytosis
Hepatomegaly, Abdominal cramps, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Mac... ORPHA:98848
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Failure to thrive, Hyp... OMIM:603554
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Lymphoproliferative Syndrome 1
Hepatomegaly, Hodgkin lymphoma, Leukopenia, Stomatitis, Lymphadenopathy, Lymphoproliferative diso... OMIM:613011
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... ORPHA:47612
Myocarditis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Leukocytosis, Bloody mucoid diarr... ORPHA:810
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... ORPHA:443811
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Lymphadenopathy, Weight loss, Bone marrow hypocellularity, Neoplasm, Lymp... ORPHA:391
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of th... ORPHA:229717
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Lymphedema, Primary, With Myelodysplasia
Leukemia, Myelodysplasia, Pancytopenia OMIM:614038
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased circulating IgA ... OMIM:240500
Refractory Celiac Disease
Inflammatory abnormality of the skin, Jejunitis, Macrocytic anemia, Villous atrophy, Normocytic a... ORPHA:398063
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Pulmonary Blastoma
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Rhabdoid Tumor
Nausea and vomiting, Neoplasm of the central nervous system, Lymphadenopathy, Weight loss, Anemia... ORPHA:69077
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... OMIM:611762
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypochromic microcytic anemia, Hepatocellular carcinoma, Hepatic fi... ORPHA:231226
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Hepatomegaly,... ORPHA:77297
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Failure to thrive,... ORPHA:79303
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Abnormality of the peritoneum, Lymphom... ORPHA:545
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Chronic otitis media, Hepatitis, Conjunctivitis, Recurrent cutaneous absc... ORPHA:47
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Primary Erythromelalgia
Leukemia ORPHA:90026
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Cardiomegaly ORPHA:88643
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Protracted diarrhea, Failure to thrive, Decre... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Erythroderma, Decreased circulating total IgA, Pneumonia, Protracted diarrhea, Failure ... ORPHA:169160
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Neurofibromatosis Type 1
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... ORPHA:636
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, H... ORPHA:231214
Sinusitis, Hodgkin lymphoma, Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasi... OMIM:208900
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Abdominal ... OMIM:618852
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Feeding difficulties, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Classic Mycosis Fungoides
Hepatomegaly, Eczema, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Lymp... ORPHA:2584
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... OMIM:601399
Galactosemia Iii
Hepatomegaly, Vomiting, Failure to thrive, Splenomegaly, Jaundice OMIM:230350
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Diarrhe... OMIM:308230
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Pancreatoblastoma, Oropharyngeal squ... ORPHA:443167
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Malabsorption, Neoplasm, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... ORPHA:2137
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Failure to thrive in infancy, Recurrent aspiration pneumonia, ... ORPHA:79124
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Obesity OMIM:605309
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Bloody diarrhea, Thrombocytosis, Defective T cell proliferation, Failure to thrive,... OMIM:618213
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Vomiting, Small for gestational age, Functional abnormal... ORPHA:90051
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Weight loss, Neoplasm of the larynx, Chronic noninfectious lym... ORPHA:100083
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrh... ORPHA:79301
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom... ORPHA:141152
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Multiple lineage mye... ORPHA:86839
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Macroglossia, T lymphocytopenia, Failure to thrive, Decreas... OMIM:242860
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Failure to thrive, C... OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Failure to thrive, Decreased circulating I... OMIM:102700
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Hemolytic anemia, Eczema, Inflammation of the large intestine, Absent microvilli on th... OMIM:600903
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Immunodeficiency 58
Eczema, Allergic rhinitis, Dysphagia, Decreased specific antibody response to vaccination, Helico... OMIM:618131
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... ORPHA:324964
Primary Intestinal Lymphangiectasia
Ascites, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastroin... ORPHA:90362
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopenia, Malnu... ORPHA:811
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... ORPHA:131
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Malabsorption, Lymphoma, Pancytopenia ORPHA:99812
Kaposi Sarcoma
Abnormality of the spleen, Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Weight... ORPHA:33276
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Impaired T cell function, Fa... OMIM:614576
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy... ORPHA:846
Familial Pancreatic Carcinoma
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... ORPHA:1333
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Ménétrier Disease
Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec... ORPHA:2494
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,... OMIM:619313
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Abdominal distention, Sple... ORPHA:3260
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, ... OMIM:614602
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin OMIM:618309
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Idiopathic Achalasia
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux ORPHA:930
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Failure to thrive, Anemia, Splenomegaly, Jaundice, Steatorrhea, ... OMIM:612714
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed to... ORPHA:2930
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Neutropenia, Failure to thrive, Feeding difficulties... ORPHA:79312
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phytohemaggl... OMIM:301000
Bloom Syndrome
Neoplasm of the skin, Acute lymphoblastic leukemia, Decreased circulating antibody level, Gastros... ORPHA:125
Waldenström Macroglobulinemia
Hepatomegaly, Anorexia, Normocytic anemia, Leukemia, Lymphadenopathy, Monoclonal immunoglobulin M... ORPHA:33226
Syndromic Diarrhea
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Hepatic fibrosi... ORPHA:84064
Chronic Beryllium Disease
Weight loss, Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Abnormal proportion... ORPHA:133
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Vomiting, Oval macrocytosis, Abnormal hemogl... ORPHA:35858
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Failure to thrive, Feeding difficulties,... OMIM:230900
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Failure to thrive, Abnormal... ORPHA:39041
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, B lymphocytopenia, Decreased specific antibody response to polysacc... ORPHA:70593
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Myeloproliferative disorder, Splenomegaly OMIM:254450
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Acute leukemia, Weight loss, Splenomegaly, Gastrointestinal hemorrh... ORPHA:729
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Anorexia, Abnormality of the peritoneum ORPHA:2023
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Abnormal intestine morphology, I... ORPHA:391487
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Recurrent infection of the gastrointestinal tract, Decreased pr... ORPHA:83471
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Sézary Syndrome
Hepatomegaly, Neoplasm of the skin, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level,... ORPHA:3162
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Bloody diarrhea, Rectal prolapse, Schistocytosis, Vomiting, Peritonitis, Microangio... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... OMIM:613662
Coproporphyria, Hereditary
Hepatomegaly, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Diarrhea, Abdominal pain,... OMIM:121300
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Abnormal stomach morphology ORPHA:281090
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Lymphadenopathy, Failure to thrive, Splenomegaly, Red... OMIM:609981
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia... OMIM:613179
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Common Variable Immunodeficiency
Failure to thrive in infancy, Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Chronic o... ORPHA:1572
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Small for gestational age, Myelodysplasia, Failure t... OMIM:260400
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Combined Saposin Deficiency
Feeding difficulties, Hepatomegaly, Splenomegaly OMIM:611721
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Myositis, Panniculitis, Cardiomegaly, Arthritis, Hepatosplenomegaly, ... ORPHA:51
Immunodeficiency 22
Diarrhea, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to thrive OMIM:615758
Turcot Syndrome With Polyposis
Thyroid carcinoma, Astrocytoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Failure to thrive, Panniculitis, Anemia, Arth... OMIM:617591
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Nausea, Abdominal distention, Increased fecal coproporphyrin 3... ORPHA:100924
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Lymphadenopathy, Abnormal lymphocyte morphology,... ORPHA:100026
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... ORPHA:158029
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Bloom Syndrome
Small for gestational age, Bronchiectasis, Leukemia, Decreased circulating IgA level, Decreased c... OMIM:210900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight... ORPHA:298
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Eczema, Macrocytic anemia, Vomiting, Megaloblastic anemia, Decreased circulating ... OMIM:617780
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... OMIM:604173
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Malabsorption OMIM:152800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Caroli Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... ORPHA:53035
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Increased circulating antibo... OMIM:615846
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Nausea and vomiting, Hepatomegaly, Anorexia, Leukopenia, Splenomegaly, Hepatic failure, Thrombocy... ORPHA:108
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steato... OMIM:278000
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis OMIM:226990
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Failure to thrive, Vacuolated lymphocytes, Cardiomegaly, Sple... OMIM:269920
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Tracheoesophageal fistu... ORPHA:93941
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypo... ORPHA:381
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Farber Lipogranulomatosis
Hepatomegaly, Failure to thrive, Arthritis, Splenomegaly, Lipogranulomatosis OMIM:228000
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Increased inflammatory response, Intestinal obstru... ORPHA:449400
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Failure to thrive, Increased circulating IgA level, Inc... OMIM:617388
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... ORPHA:388
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... ORPHA:829
Acute Promyelocytic Leukemia
Leukocytosis, Anorexia, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Weight loss, Anemia... ORPHA:520
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemo... ORPHA:79477
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis OMIM:259730
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Squamous cel... OMIM:618849
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Weight loss, Abnormal liver sonography, Neoplasm of the l... ORPHA:90003
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Leukocytosis, Weight loss, Increased circulating IgE level, Hypereosinophilia,... ORPHA:2902
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipe... OMIM:214900
Chronic Granulomatous Disease
Sinusitis, Pyloric stenosis, Eczema, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Sp... ORPHA:379
Autoimmune Hemolytic Anemia
Lymphoma, Splenomegaly, Hemolytic anemia, Abdominal pain, Abnormal leukocyte morphology ORPHA:98375
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Weight loss, Panniculitis, Splenomegaly, Inflammatory abnormal... ORPHA:33577
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Iron deficiency anemia, Abdominal distention, Weight loss, S... ORPHA:309031
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di... ORPHA:75234
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lymphad... OMIM:617099
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Hepatomegaly, Prolonged neonatal jaundice, Vomiting, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... ORPHA:158061
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Cinca Syndrome
Nausea and vomiting, Leukocytosis, Hepatomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Ane... ORPHA:1451
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Adult Idiopathic Neutropenia
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... ORPHA:2688
Immunodeficiency 87 And Autoimmunity
Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Jaundice, Autoimmune hemolyti... OMIM:619573
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgD level, Vomiting, Lymphadenitis, Lymphadenopathy, Chronic ... OMIM:260920
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Gastric varix, Splenomeg... ORPHA:64743
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Cold Agglutinin Disease
Nausea and vomiting, Hepatomegaly, Lymphadenopathy, Splenomegaly, Diarrhea, Hemolytic anemia ORPHA:56425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Multiple myeloma, Weight loss, Pancreatitis, Diarrhea, A... ORPHA:188
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglossia, Lymph... ORPHA:2221
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis OMIM:613313
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Failure to thrive, Splenomegaly, Poor appetite, Diarrhea OMIM:201100
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Failure to thrive, Feeding diffi... OMIM:613489
Niemann-Pick Disease, Type A
Hepatomegaly, Feeding difficulties in infancy, Vomiting, Ascites, Lymphadenopathy, Failure to thr... OMIM:257200
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Myeloproliferative disorder... OMIM:190685
Interstitial pneumonitis, Chronic oral candidiasis, Weight loss, Neoplasm, Increased circulating ... ORPHA:723
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic ... OMIM:601847
Selective Igm Deficiency
Non-infectious meningitis, Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodie... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomye... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomye... OMIM:233710
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Biliary tract ob... ORPHA:400
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hyperactivity, Ataxia, Hepatic steatosis, Gait ataxi... ORPHA:363400
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly OMIM:105200
Weight loss ORPHA:3389
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Cryptogenic Organizing Pneumonia
Leukocytosis, Weight loss, Anorexia, Neutrophilia ORPHA:1302
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Castleman Disease
Nausea and vomiting, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Abdomi... ORPHA:160
Nijmegen Breakage Syndrome
Sinusitis, Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Cleft palate, Rh... OMIM:251260
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocy... OMIM:227645
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... OMIM:619463
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Neuroblastoma, Susceptibility To, 1