Gene Summary

Name:
chemokine (C-C motif) receptor 2
Synonyms:
Cmkbr2,  CCR2B,  CCR2A,  CKR2,  CC-CKR-2,  CKR2A,  CKR2B

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Ccr2em1(IMPC)H HOM Early adult 9.98×10-05
decreased lymphocyte cell number Ccr2em1(IMPC)H HOM Late adult 1.33×10-05
decreased monocyte cell number Ccr2em1(IMPC)H HOM Late adult 2.07×10-11
increased eosinophil cell number Ccr2em1(IMPC)H HOM Late adult 3.39×10-21
enlarged heart Ccr2em1(IMPC)H HOM Late adult 0.00
decreased neutrophil cell number Ccr2em1(IMPC)H HOM Late adult 3.57×10-08

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.

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Ccr2 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 Ccr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Immunodeficiency 19
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media OMIM:615617
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Immunodeficiency 40
Lymphopenia OMIM:616433
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Lymphopenia, Chronic oral can... ORPHA:169160
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections OMIM:606445
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropenia OMIM:300988
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Immunodeficiency 8
Lymphopenia OMIM:615401
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis, Increased circulating antibody level OMIM:118900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflamma... OMIM:618108
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneum... OMIM:269840
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, ... OMIM:603554
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 104
Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocytopenia, Chronic... OMIM:608971
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia, Recurrent infections OMIM:615387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Panhypogammaglob... OMIM:601457
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency 24
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Decreased specific ... OMIM:615897
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... OMIM:209920
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... OMIM:618204
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Low neutrophil alkaline phosphatase, Recurrent bacterial infection... OMIM:245480
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Eczema, At... OMIM:243700
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly... OMIM:619802
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Eosinophilia, Hepatosplenomegaly, Membranous ... OMIM:618999
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Papular Xanthoma
Histiocytosis ORPHA:158008
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Immune Deficiency Disease
Recurrent bacterial infections, Fulminant hepatitis, Decreased circulating total IgM, Cholangitis... OMIM:242850
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Medi... OMIM:300853
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In... OMIM:610163
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... OMIM:618282
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Recurrent bacteria... OMIM:613502
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Recurrent otitis ... OMIM:614379
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619874
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... OMIM:147060
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... OMIM:619220
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... ORPHA:276
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Bardet-Biedl Syndrome 16
Respiratory distress, Retinal degeneration, Rod-cone dystrophy, Cognitive impairment, Bronchiolit... OMIM:615993
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le... OMIM:603909
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Lymphocytosis, Abd... OMIM:301074
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Diarrhea, B lymp... ORPHA:277
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Hepatomegaly, Chronic oral candidia... OMIM:300400
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613494
Cinca Syndrome
Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Meningitis, Uveitis, Anemia... OMIM:607115
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Ceroid Lipofuscinosis, Neuronal, 6A
Motor deterioration, Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Diarrhea, Thrombocy... OMIM:618963
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... OMIM:619773
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... ORPHA:33355
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Hemophagocytosis, Hepatic failure, Aplastic anemia, Pancytopenia, Lymphadenopathy, ... OMIM:308240
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Aut... OMIM:613496
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Concentric hype... OMIM:204200
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Tube feeding, Lymphopenia, Decreased circulating IgG level, Olig... OMIM:619510
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Diamond-Blackfan Anemia 4
Atrial septal defect, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Eczema, Autoimmune thrombocytop... OMIM:304790
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Immunodeficiency 22
Diarrhea, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Panniculitis OMIM:615758
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Ethanolaminosis
Cardiomegaly OMIM:227150
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Mantle Cell Lymphoma
Anorexia, Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Elevat... ORPHA:829
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Lymphoproliferative Syndrome 2
EBV meningitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplasti... OMIM:615122
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent infection of the gastrointestinal tract, Recurren... ORPHA:486
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Acute kidney injury... OMIM:615008
Cystic Echinococcosis
Unusual infection, Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly,... ORPHA:400
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy OMIM:613217
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morphology, P... ORPHA:39041
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss ORPHA:930
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... ORPHA:33110
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... OMIM:618534
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Thrombocytopenia OMIM:616744
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... OMIM:618261
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 102
Hepatomegaly, Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:301082
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Atopic dermatit... ORPHA:2070
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Eczema, Recurrent pneumonia, Recurrent otitis media, Ly... OMIM:616651
Wells Syndrome
Eosinophilia ORPHA:901
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Uve... OMIM:617388
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Eczema, Decreased circulating antibody level, Recurrent pneumon... ORPHA:353298
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Senior-Loken Syndrome 4
Anemia, Polydipsia, Rod-cone dystrophy OMIM:606996
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi... OMIM:617056
Folate Malabsorption, Hereditary
Failure to thrive, Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Neutrope... OMIM:229050
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Feeding difficultie... OMIM:616050
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anorexia, Hepatosplenomegaly, Diarrhea, Increased circ... OMIM:209950
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... ORPHA:26790
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Anoperineal fistula, Chroni... OMIM:615607
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Intermittent t... OMIM:616740
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Mental deterioration, Retinopathy, Pigmentary retinopathy, Neurodegeneration, O... OMIM:610951
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Isolated Congenital Hypoglossia/Aglossia
Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Nasogastric tube feeding i... ORPHA:141152
Diarrhea 9
Failure to thrive, Villous atrophy, Diarrhea OMIM:618168
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Sepsis, Abnormality of the lymphatic system, Chronic otitis ... ORPHA:47
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Sterile abscess, Hepatosplenomegaly, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... ORPHA:2198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612925
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia, Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Polyp... OMIM:615986
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Cognitive impairment ORPHA:1178
Immunodeficiency 31C
Lymphopenia, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Autoimmune hem... OMIM:614162
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Interstitial pneumonitis,... ORPHA:139402
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612926
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulatin... OMIM:616100
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... OMIM:615978
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... ORPHA:388
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612922
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Neuropathy, Ataxia, And Retinitis Pigmentosa
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy... OMIM:551500
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, D... OMIM:301078
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy, R... OMIM:602271
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Cerebral atrophy, Retinal degeneration, Progressive language deteriora... ORPHA:79264
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Barth Syndrome
Abnormality of neutrophils, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Psychomotor deterior... OMIM:256730
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:2246
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thrombocytopenia, Arthritis... ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Bardet-Biedl Syndrome 17
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Cognitive impairment, Cone/cone-rod dystrop... OMIM:615994
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Melioidosis
Splenic abscess, Unusual skin infection, Prostatitis, Osteoarthritis, Sepsis, Abnormality of the ... ORPHA:31202
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenop... ORPHA:2686
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cardiomyopathy, Neutropenia OMIM:604250
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormal lymphocy... ORPHA:229717
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Diarrhea, Vomiting, Feeding difficulties in infancy, Abnormal intestine morpho... OMIM:606528
Immunodeficiency 23
Lymphopenia, Eosinophilia, Eczema, Membranoproliferative glomerulonephritis, Abscess, Severe vari... OMIM:615816
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... OMIM:619658
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Constrictive pericarditis... ORPHA:67
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Macular degeneration ORPHA:85334
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo... OMIM:600351
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Non-caseating epithelioid cell granulomatosis, Elevated circulating cre... OMIM:607665
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Otiti... OMIM:613179
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, Enterocolitis, Leuk... OMIM:243150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased prop... OMIM:617241
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54057
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, T lymphocytop... OMIM:618806
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... OMIM:306400
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections OMIM:605309
Spinocerebellar Ataxia 7
Macular degeneration, Mental deterioration, Pigmentary retinopathy, Optic atrophy, Dysphagia OMIM:164500
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Nephronophthisis 11
Anemia, Polydipsia, Anisocoria, Retinal degeneration OMIM:613550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea OMIM:615592
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... ORPHA:3261
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Zika Virus Disease
Absent foveal reflex, Skin rash, Retinal pigment epithelial mottling, Chorioretinal atrophy, Macu... ORPHA:448237
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Sepsis, Cholestasis ORPHA:570422
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic OMIM:615863
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... OMIM:224100
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Sandhoff Disease