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Gene: Fam3d MGI:1201784

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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:
FAM3 metabolism regulating signaling molecule D
Synonyms:
Oit1,  2310076N21Rik,  EF-7

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 Fam3d 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 Fam3d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Affective Disorder 1
Depression, Mania OMIM:125480
Major Depressive Disorder
Depression OMIM:608516
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Obsessive-compulsive trait, Emotional lability, Aggressive beha... ORPHA:468726
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, B-cell lymphoma, Lymphadenopat... OMIM:619164
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce... OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Immunodeficiency 70
Verrucae, Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive h... OMIM:618969
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of c... OMIM:616098
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti... OMIM:613502
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc... OMIM:604416
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... OMIM:616050
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Partial absence... OMIM:618108
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal... OMIM:226990
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemi... OMIM:209920
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... OMIM:618752
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... ORPHA:540
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Cardiomegaly ORPHA:88643
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... ORPHA:26790
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hepatome... OMIM:603552
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Ab... OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Reduced natu... OMIM:308240
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematological neoplasm, Neutropenia, A... ORPHA:98850
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Dysgammaglob... ORPHA:100025
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea... OMIM:301074
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ... ORPHA:486
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... ORPHA:3261
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Eczematoid dermatitis, Intestinal lym... OMIM:620632
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract, Lymphadenopathy, Anorexia ORPHA:52416
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha... ORPHA:3243
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Bloody diarrhea, Protracted diarrhea, Leukocytosis, Intestinal obstruc... ORPHA:67
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 46
Conjunctivitis, Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocy... OMIM:616740
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Decreased circulating antibod... ORPHA:397596
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties... OMIM:229050
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-... ORPHA:572
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Verrucae, Osteomyelitis, Malabsorption, Skin rash, Agammaglo... ORPHA:33110
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Malabsorption, Neoplasm, Skin rash... ORPHA:47
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Decreased ... OMIM:601495
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Whim Syndrome 1
Decreased circulating IgG level, Verrucae, Neutropenia, Decreased circulating antibody level, Bro... OMIM:193670
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Eosinophilic Gastroenteritis
Allergic rhinitis, Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Atopic dermatiti... ORPHA:2070
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Volvulus, Malnutrition, Cholestasis, Villous atrophy, Abnormal small intestin... ORPHA:95427
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... OMIM:607594
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Intestinal per... ORPHA:810
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L... OMIM:615387
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen... ORPHA:2137
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl... ORPHA:99867
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Increased circu... OMIM:616395
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Gastroesophageal reflux, Cryptorchidism, Constipation, Neutropenia, Feeding ... OMIM:620012
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Sepsis In Premature Infants
Vomiting, Diarrhea, Abdominal distention, Decreased liver function, Increased circulating interle... ORPHA:90051
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Verrucae, Cutaneous abscess, Eczematoid d... OMIM:618131
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Hepatospl... OMIM:618963
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ... OMIM:619752
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Microangiopathic hemolytic anemia, Bloody diarrhea, Leukocytosis, Reticulocyt... ORPHA:90038
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophili... ORPHA:98849
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de... OMIM:615895
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 15B
Reduced natural killer cell count, Chronic diarrhea, Agammaglobulinemia, Monocytosis, Decreased c... OMIM:615592
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Whim Syndrome
Pneumonia, Recurrent pneumonia, Verrucae, Lymphadenitis, Parotitis, Abnormal neutrophil morpholog... ORPHA:51636
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Squamous c... ORPHA:542592
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Wolman Disease
Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Anemia, ... ORPHA:75233
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific gra... OMIM:617475
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutro... ORPHA:79312
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, L... OMIM:613989
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Hematological neoplasm, Acute infectious pneumonia, Neutrope... ORPHA:73263
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal... OMIM:209950
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Pancytopenia, Hepatospl... OMIM:619858
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Cartilage-Hair Hypoplasia
Basal cell carcinoma, Anal stenosis, Lymphoma, Lymphopenia, Malabsorption, Macrocytic anemia, Aga... OMIM:250250
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Neutropenia, Anemia OMIM:604250
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Decrease... OMIM:300853
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites... OMIM:306400
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Gastric varix, Cirrhosis, Br... OMIM:613490
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Chronic constipation, Rectal prolapse, Epi... ORPHA:209964
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating C... OMIM:620376
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Verrucae, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent aphthous... OMIM:614868
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T... OMIM:240500
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... OMIM:301000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Pelger-Huet Anomaly
Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Median cleft palate, Hyposegmenta... OMIM:169400
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Imerslund-Gräsbeck Syndrome
Vomiting, Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto... ORPHA:35858
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,... OMIM:616871
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Protuberant abdomen, Neutr... OMIM:232220
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... ORPHA:75234
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Neutropenia, ... ORPHA:79477
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Feeding difficulties, Cryptorchidism, Thrombocytopenia, Neutropenia, Nor... OMIM:614857
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the... ORPHA:84064
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... OMIM:612562
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume OMIM:301108
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Neutropenia, Dysphagia, Bronchiectasis, Feeding difficulties OMIM:618253
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Abnormal lymphocyte morphology, Episc... ORPHA:47612
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, M... OMIM:619644
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hepatic steatosis, Elevate... OMIM:201475
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatome... OMIM:617941
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Anemi... OMIM:260400
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens... OMIM:608233
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Abnormal circulating chemokine concentration, G... ORPHA:544482
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Harderoporphyria
Increased fecal harderoporphyrin, Vomiting, Increased circulating ferritin concentration, Splenom... OMIM:618892
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Bone marrow hypocellularity, Abdominal distention, Abnormal pr... ORPHA:1830
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc... OMIM:613990
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia,... OMIM:557000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Hepatomegaly, Tracheoesophageal fistula, Megaloblastic anemia, Neutropen... OMIM:277380
Propionic Acidemia
Vomiting, Eczematoid dermatitis, Pancytopenia, Hepatomegaly, Feeding difficulties in infancy, Con... OMIM:606054
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... OMIM:214500
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... OMIM:619523
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Megaloblastic anemia, Neutropenia, Jaundice, Feeding difficulties OMIM:250940
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inade... OMIM:612714
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Reduced haptoglobin l... OMIM:301110
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... OMIM:601847
Neonatal Lupus Erythematosus
Hepatic failure, Aplastic anemia, Pancytopenia, Malar rash, Abnormality of the liver, Splenomegal... ORPHA:398124
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... ORPHA:562639
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Bil... ORPHA:79301
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Hepatomeg... OMIM:619573
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy ORPHA:66661
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Conjunctivitis, Acute hepatic failure, Malabsorption, Nausea and vom... ORPHA:537
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis... ORPHA:292
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Letterer-Siwe Disease
Abdominal distention, Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, A... OMIM:246400
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Vomiting, Diarrhea, Pancytopenia, Decreased circulating IgA leve... OMIM:275350
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Focal Facial Dermal Dysplasia Type Iv
Hemangioma, Cleft palate, Abnormal mast cell morphology ORPHA:398189
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Leukopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulo... OMIM:251000
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Familial Mediterranean Fever
Vomiting, Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hepatoblasto... OMIM:232240
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Conjunctivitis, Esophagitis, Neopl... ORPHA:2908
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... OMIM:615122
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Ascites, Malabs... ORPHA:131
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Thyroiditis, Inflammation of the large intestine, Diarrhea... ORPHA:79259
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro... ORPHA:167
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Methylmalonic Acidemia With Homocystinuria Type Cblf
Feeding difficulties, Skin rash, Reduced number of intrahepatic bile ducts, Megaloblastic anemia,... ORPHA:79284
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Acute Promyelocytic Leukemia
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia,... ORPHA:520
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Cryptorchidism, Erythroi... OMIM:612541
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate OMIM:614520
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Necrotizing Enterocolitis
Vomiting, Diarrhea, Abdominal distention, Hypoactive bowel sounds, Ascites, Leukocytosis, Periton... ORPHA:391673
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Fusariosis
Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Lymphopenia, Abnormality of the spleen... ORPHA:228119
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Leukopenia, Splenom... OMIM:617303
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Ele... ORPHA:54251
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... OMIM:243180
Immunodeficiency 108 With Autoinflammation
Abdominal pain, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired ne... OMIM:260570
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thro... OMIM:112200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte... ORPHA:228426
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Myelodysplasia, Lympha... OMIM:617827
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the skeletal system, Neoplasm of the rectum, Neop... ORPHA:424019
Chronic Granulomatous Disease
Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Hepatomegaly,... ORPHA:379
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Gout, Neutropenia OMIM:617056
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Schnitzler Syndrome
Lymphoma, Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia... ORPHA:37748
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Splenomegaly, Hepatome... OMIM:607765
American Trypanosomiasis
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Hepatomegaly, ... ORPHA:3386
Cohen Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Leukopenia, Feeding d... OMIM:216550
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev... OMIM:620501
Kasabach-Merritt Phenomenon
Neoplasm of the skin, Abdominal distention, Microangiopathic hemolytic anemia, Capillary hemangio... ORPHA:2330
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia OMIM:618067
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Squamous cell carcinoma of th... OMIM:620443
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... OMIM:614162
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production, Bilateral cleft palate OMIM:614900
Methylcobalamin Deficiency Type Cble
Vomiting, Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic a... ORPHA:2169
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Wolman Disease
Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly OMIM:620151
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Splenomegaly, Portal hypertension, Abnormality ... ORPHA:1414
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane... OMIM:618495
Anal Fistula
Anoperineal fistula, Leukocytosis ORPHA:228113
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Acute Generalized Exanthematous Pustulosis
Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de... ORPHA:293173
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ... OMIM:604173
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Aicardi-Goutieres Syndrome 6
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Wolcott-Rallison Syndrome
Hypoalbuminemia, Exocrine pancreatic insufficiency, Acute hepatic failure, Ascites, Abnormality o... ORPHA:1667
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,... OMIM:251900
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Anorexia, Cervical lymphadenopathy, Leukopenia, Malar rash, Enlar... ORPHA:50918
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Splenomegaly, Hepatomegaly, Steatorrhea, Jau... OMIM:235555
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastr... OMIM:174900
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Lym... ORPHA:3226
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel... OMIM:181000
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Lymphoid nodular hy... ORPHA:210548
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,... OMIM:620603
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Psoriasis 14, Pustular
Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu... OMIM:614204
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Caroli Disease
Cholestasis, Cirrhosis, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Esophageal varix, Intra... ORPHA:53035
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase... ORPHA:507
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El... OMIM:116920
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Mitochondrial swell... OMIM:606812
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Classic Mycosis Fungoides
Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Skin rash,... ORPHA:2584
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Lymphopenia... OMIM:242840
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepa... OMIM:613489
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Galactosemia Iii
Hepatomegaly, Jaundice, Vomiting, Splenomegaly OMIM:230350
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma... OMIM:617052
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Anorexia, Hepatomegaly, Breast carcinoma ORPHA:86893
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Vomiting, Diarrhea, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru... ORPHA:32960
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, In... OMIM:617099
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Dysphagia, Neutropenia OMIM:615471
Methylmalonic Aciduria, Cblb Type
Vomiting, Pancytopenia, Hepatomegaly, Feeding difficulties in infancy, Thrombocytopenia, Neutrope... OMIM:251110
Mednik Syndrome
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Graft Versus Host Disease
Pneumonia, Vomiting, Diarrhea, Hemophagocytosis, Inflammatory abnormality of the skin, Fasciitis,... ORPHA:39812
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Hyper-Igd Syndrome
Vomiting, Diarrhea, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ren... OMIM:260920
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunog... OMIM:242900
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Methylmalonic Aciduria, Cbla Type
Vomiting, Pancytopenia, Hepatomegaly, Feeding difficulties in infancy, Thrombocytopenia, Neutrope... OMIM:251100
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... ORPHA:92050
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Constipa... ORPHA:99745
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Tracheoesoph... OMIM:227646
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphoma, Lymphopenia, Abnormality of the liver, Decreased circulating... ORPHA:1572
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Vomiting, Diarrhea, Aplastic anemia, Nasogastric tube... ORPHA:221008
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Recurrent infection of the gastrointestinal tract, Leukocytosis, Abdominal pain, Abdomi... ORPHA:51890
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Vomiting, Diarrhea, Aplastic anemia, Lymphoma, Nasoga... ORPHA:221016
Omenn Syndrome
Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eo... ORPHA:39041
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Refractory anemia, Adenomatous colonic polyposis, Thyroid carcinoma, ... ORPHA:157794
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated... OMIM:615688
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei... OMIM:607115
Niemann-Pick Disease, Type A
Vomiting, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Feeding... OMIM:257200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Abdominal pain ORPHA:163746
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Myelodysplasia, Reti... ORPHA:508542
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le... ORPHA:809
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Neoplasm of the heart, Cryptorchidism, A... ORPHA:2241
Omenn Syndrome
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep... OMIM:613812
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly ORPHA:2414
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Squamous cell carcinoma of the skin, Malabsorption, Neutropenia, Ano... ORPHA:79430
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Neoplasm of t... OMIM:175200
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Increased mean corpuscular volume, Osteosarcoma, Persistence of hemoglobin ... OMIM:105650
Relapsing Fever
Vomiting, Diarrhea, Leukopenia, Leukocytosis, Jaundice, Elevated circulating C-reactive protein c... ORPHA:91547
Intellectual Developmental Disorder, Autosomal Dominant 54
Gastroesophageal reflux, Eczematoid dermatitis, Chronic constipation, Gastrointestinal dysmotilit... OMIM:617799
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Feeding difficulties, Splenomegaly, Neutropenia OMIM:617050
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... ORPHA:90068
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Neoplasm, Elevated circulating C-reactive pro... ORPHA:70591
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia, Fe... ORPHA:445038
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Feeding difficulties, Neutropenia OMIM:618005
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Thyroid adenoma, Pituitary adenoma, Pituitary prolactin cell adenoma, Adr... OMIM:131100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Subcutaneous panniculitis-like T-... OMIM:618398
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... OMIM:618852
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery... ORPHA:342
Cinca Syndrome
Leukocytosis, Splenomegaly, Nausea and vomiting, Inflammatory abnormality of the eye, Hepatomegal... ORPHA:1451
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Impaired T cell function, Lymphoma, Lymphopenia, Lymph node hypoplasia, Abnormality of... OMIM:613179
Barth Syndrome
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Neutropenia... OMIM:302060
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Tube feeding, ... OMIM:616271
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Increased circulating ferritin concentration, Leukocytosi... ORPHA:829
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,... ORPHA:95455
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Hepatomegaly, Neutropenia, Anemia, Decreased circulating an... ORPHA:175
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal... ORPHA:186
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Goiter, Nausea and vomiting, Splenomegaly, Episcleritis, Thrombocytopenia, N... ORPHA:525731
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Malignant genitourinary tract tumor, Duodenal ade... OMIM:158320
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Vomiting, Diarrhea, Portal fibrosis, Cholestasis, Splenomegaly, Hepatic steatos... ORPHA:264580
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Splenomegaly... ORPHA:91138
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob... ORPHA:3162
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly ORPHA:3035
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype... OMIM:616028
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Revesz Syndrome
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Macrocytic anemia, Neutropenia OMIM:268130
Rothmund-Thomson Syndrome
Neoplasm of the skin, Basal cell carcinoma, Vomiting, Diarrhea, Aplastic anemia, Malar rash, Skin... ORPHA:2909
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C... OMIM:170100
Khan-Khan-Katsanis Syndrome
Lymphopenia, Neutropenia, Anemia, Dysphagia, Feeding difficulties OMIM:618460
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... ORPHA:1304
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,... ORPHA:77259
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Neutropenia OMIM:609053
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Diarrhea, Monoclonal immunoglobulin M proteinemia... ORPHA:33226
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... OMIM:607944
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthr... ORPHA:42642
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Polycythemia Vera
Early satiety, Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Leukocytosis, Splenomeg... ORPHA:729
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Hepatomegaly, Neutrophilia, Elevated ci... OMIM:612852
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Leigh Syndrome
Hepatic failure, Eczematoid dermatitis, Gastrointestinal dysmotility, Neutropenia, Anemia, Dyspha... ORPHA:506
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Increased circulating ferritin concentration, Congenital ... ORPHA:766
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Pancytopenia, Hypersplenism, Decreased circulating IgA level,... OMIM:613385
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Pachydermoperiostosis