Gene Summary

Name:
diaphanous related formin 1
Synonyms:
Drf1,  D18Wsu154e,  Diap1,  mDia1,  Dia1,  p140mDia

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
increased blood urea nitrogen level Diaph1em1(IMPC)Rbrc HOM   Early adult 1.71×10-05

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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 Diaph1 mutations

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

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

The table below shows human diseases associated to Diaph1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Recurrent infections, Decreased proportion of CD4-positive T cells ORPHA:477814
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Seizures, Cortical Blindness, And Microcephaly Syndrome
Short stature, Growth delay, Bronchiectasis OMIM:616632
Moyamoya Disease
ORPHA:2573

The table below shows human diseases predicted to be associated to Diaph1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn... OMIM:212050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
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
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum,... OMIM:618982
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Chro... ORPHA:33355
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur... ORPHA:499
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... OMIM:616911
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency 48
Pneumocystis carinii pneumonia, Recurrent candida infections, Panhypogammaglobulinemia, Abnormal ... OMIM:269840
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... OMIM:618987
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Micr... ORPHA:846
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Omenn Syndrome
Thyroiditis, Pneumonia, Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hep... ORPHA:39041
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Immunodeficiency 44
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... OMIM:616636
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... OMIM:615767
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag... OMIM:615214
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Thrombo... OMIM:603552
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Pleural effusion, Lympha... OMIM:619644
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Classic Mycosis Fungoides
Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphad... ORPHA:2584
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Delayed eruption of teeth, Tooth agenesis, Abnormal fingernail morph... ORPHA:2325
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decreased circul... OMIM:300400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Monocytosis OMIM:615592
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, Erythroderma, Lymphadenop... ORPHA:3162
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Dehydration ORPHA:79312
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... ORPHA:486
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Eosinophilia... OMIM:304790
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormality of humoral immunit... ORPHA:277
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Omenn Syndrome
Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, ... OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Eczematoid dermatitis... OMIM:606367
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplen... OMIM:259710
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia ORPHA:2688
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... ORPHA:217390
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Hepatosplenomegaly... ORPHA:210110
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Systemic Lupus Erythematosus 17
Alopecia, Myelitis, Lymphopenia, Leukopenia, Malar rash, Oral ulcer, Optic neuritis, Thrombocytop... OMIM:301080
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Dehydration ORPHA:28
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... ORPHA:98813
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis... OMIM:607115
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... OMIM:618963
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly, Monocyt... OMIM:226990
Odonto-Onycho Dysplasia-Alopecia Syndrome
Tooth malposition, Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Ab... ORPHA:2722
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia, Dehydration ORPHA:27
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus ORPHA:37748
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alop... OMIM:615387
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... ORPHA:169160
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Neutropenia, Sinusitis, Arthritis, Conjuncti... ORPHA:33110
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Intrauterine g... OMIM:620565
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Peeling Skin Syndrome 1
Nail dystrophy, Eosinophilia, Onycholysis, Erythroderma, Brittle hair, Short stature, Pruritus OMIM:270300
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy... ORPHA:79456
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Congenital Syphilis
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Synovitis, High pal... ORPHA:499009
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Chol... OMIM:615895
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrow... ORPHA:61
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos... ORPHA:139402
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Abnormality o... ORPHA:47
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Hyperna... OMIM:256500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... OMIM:617021
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Abnormality of the dentition, Alopecia, Recurrent pneumonia, Atopic dermatitis, Cutaneous abscess... OMIM:618282
Dominant Beta-Thalassemia
Abnormality of the dentition, Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullar... ORPHA:231226
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, R... OMIM:615631
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Dehydration OMIM:243500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Oral ulcer, Otitis media, Erythroid hy... OMIM:612541
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... OMIM:619510
Propionic Acidemia
Eczematoid dermatitis, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, A... OMIM:606054
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ... OMIM:616873
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Infectious encephalitis, He... ORPHA:540
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Fanconi Anemia, Complementation Group S
Dental malocclusion, Thick upper lip vermilion, Macrodontia, Long eyelashes, Low anterior hairlin... OMIM:617883
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... ORPHA:231214
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Lymphedema, Furro... ORPHA:2930
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma... OMIM:246400
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Isolated Agammaglobulinemia
Pneumonia, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormality of the lymphatic ... ORPHA:229717
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Decr... ORPHA:911
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Disseminated molluscum contagiosum, Eosinophilia, Severe cytomeg... OMIM:617638
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Short stature OMIM:259730
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... ORPHA:331206
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent... OMIM:301078
Zimmermann-Laband Syndrome
Bifid uvula, Facial hypertrichosis, Growth delay, Hypoplastic fingernail, Long eyelashes, Thick e... ORPHA:3473
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of scalp, Anonychia, E... ORPHA:79402
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Carious teeth, Lymphopenia, Postnatal growth retardation, Aphthous ulcer, Lip ... OMIM:620603
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Neutropenia, Chronic Familial
Gingivitis, Periodontitis, Neutropenia, Premature loss of teeth OMIM:162700
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Osteopetrosis, Autosomal Recessive 5
Growth delay, Extramedullary hematopoiesis, Long philtrum, Ascites, Hepatosplenomegaly, Pancytope... OMIM:259720
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Recurrent otitis media,... OMIM:615607
Leishmaniasis
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... ORPHA:507
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce... OMIM:607616
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Hypopigmentation of hair, Neutropenia ORPHA:90023
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Downturned corners of mouth, Long philtrum, Eczematoid ... OMIM:616651
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Short stature, Neutropenia OMIM:616022
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Downturned corners of mouth, Long philtrum, Eczematoid ... ORPHA:353298
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis, Early balding, Curly hair OMIM:121270
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Hepatomegaly, Recurrent skin... OMIM:620210
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus OMIM:607685
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusit... OMIM:616576
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Alopecia, Microangiopathic hemolytic anemia, Ascites, Lymphopenia,... ORPHA:93552
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid... ORPHA:436159
Generalized Pustular Psoriasis
Lymphopenia, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, Geographic tongue, Art... ORPHA:247353
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Premature loss of teeth OMIM:114580
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse axillary hair, Pruritus, Sparse scalp hair ORPHA:505
Congenital Toxoplasmosis
Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocyt... ORPHA:858
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemoly... OMIM:615010
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... ORPHA:98850
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno... OMIM:603909
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Diamond-Blackfan Anemia 9
Anemia, Webbed neck, Growth delay OMIM:613308
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Fetal Parvovirus Syndrome
Ascites, Intrauterine growth retardation, Increased nuchal translucency, Thrombocytopenia, Anemia... ORPHA:295
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
Burkitt Lymphoma
Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnormality of the spleen, Abnormali... ORPHA:543
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Micrognathia, Narrow mouth, Anemia, Thin ... ORPHA:1046
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... OMIM:618116
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Carious teeth, Aplastic anemia, Increased mean corpuscular... OMIM:127550
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Growth delay, Ascites, Intrauterine growth re... OMIM:253250
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutrop... ORPHA:79477
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy ORPHA:86893
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... OMIM:604416
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Lymphadenopa... ORPHA:3226
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Lympha... ORPHA:397596
Immunodeficiency 54
Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,... OMIM:609981
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ... OMIM:141300
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Wolcott-Rallison Syndrome
Growth delay, Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Lymphocytosis... ORPHA:1667
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol... OMIM:616100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr... OMIM:614069
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Edema, Pedal edema OMIM:152800
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin... OMIM:137100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormality of the dentition, Periodontitis, Sparse body hair, Gingivitis, ... ORPHA:1008
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... ORPHA:54251
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay OMIM:614082
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening... OMIM:616740
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Lymphadenopathy, A... ORPHA:1451
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Rhizomelia, Leukopenia, Micrognathia, Intrauterine growth retardation, Hepat... OMIM:616271
Rubinstein-Taybi Syndrome 2
Highly arched eyebrow, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Long eyel... OMIM:613684
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia ORPHA:83601
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly, Tubulointerstitial nephrit... OMIM:251000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Lymphopenia, Lymph node hypoplas... OMIM:602450
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Autoimmune thr... OMIM:608184
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Spa... OMIM:619692
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... OMIM:616738
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Gingival overgrowth,... ORPHA:313855
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Alopecia, Dental malocclusion, Selective tooth agenesis, Microcytic anemia, Microgna... ORPHA:2959
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Medi... ORPHA:545
Bleeding Disorder, Platelet-Type, 21
Alopecia, Eczematoid dermatitis, Psoriasiform dermatitis, Thrombocytopenia, Increased mean platel... OMIM:617443
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Pachydermoperiostosis
Eczematoid dermatitis, Abnormal fingernail morphology, Osteomyelitis, Splenomegaly, Joint swellin... ORPHA:2796
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Mixed Connective Tissue Disease
Alopecia, Mediastinal lymphadenopathy, Xerostomia, Leukopenia, Splenomegaly, Joint swelling, Skin... ORPHA:809
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Keratitis, Nail dystrophy, Nail dysplasia, Punctate keratitis, Scarring alopecia o... OMIM:226670
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Deep philtrum, Lympha... OMIM:619750
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ... OMIM:620532
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Postnatal growth retardation, He... ORPHA:79303
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Intrauterine growth retardation,... OMIM:617827
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Parc Syndrome
Alopecia, Microretrognathia, Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia,... OMIM:266265
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... ORPHA:35078
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Noonan Syndrome 4
Webbed neck, Sparse eyebrow, High anterior hairline, Dental malocclusion, Thick vermilion border,... OMIM:610733
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Pruritus, Cholestasis, Portal hypertension, Splenomeg... OMIM:607626
Proteasome-Associated Autoinflammatory Syndrome 3
Periorbital edema, Conjunctivitis, Lymphopenia, Splenomegaly, Skin rash, Myositis, Hepatomegaly, ... OMIM:617591
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia, Short stature OMIM:188150
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Abnormal oral cavity morphology, Lymphadenopathy, Arthriti... ORPHA:42642
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... ORPHA:457077
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Leukocytosis, Absc... ORPHA:810
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... ORPHA:331235
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Recurrent pneumonia, Recurrent otitis media, Hirsutism, Nail dy... OMIM:617475
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Joint swelling, Splenomegaly, Skin rash, In... ORPHA:829
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Oral ulcer, Pustule, Neutropenia, Hepatomegaly, Alopecia, Malar r... ORPHA:50918
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Oral ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Hydrops... ORPHA:163596
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... ORPHA:59303
Acute Generalized Exanthematous Pustulosis
Facial edema, Pruritus, Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, ... ORPHA:293173
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Erythrod... ORPHA:3260
Lamellar Ichthyosis
Abnormality of the dentition, Erythroderma, Everted lower lip vermilion, Aplasia/Hypoplasia of th... ORPHA:313
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Short stature, Short ph... ORPHA:2471
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Pancytopenia, Micro... ORPHA:85321
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Disp... ORPHA:763
Nephronophthisis
Anemia ORPHA:655
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia, Postnatal growth retardation, Severe short stature OMIM:618728
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia... ORPHA:572
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu... ORPHA:77297
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fetalis OMIM:619462
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inad... OMIM:612714
Heme Oxygenase 1 Deficiency
Nephritis, Growth delay, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ane... OMIM:614034
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia OMIM:619693
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Dehydration OMIM:251110
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ... OMIM:618394
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Oral leukoplakia, Fine hair, Premature gr... OMIM:613990
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Postnatal growth retardation, Pan... OMIM:210600
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Distichiasis, Delayed puberty, Anemia, High palate ORPHA:2598
H Syndrome
Alopecia, Cleft upper lip, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepato... ORPHA:168569
Chediak-Higashi Syndrome
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... OMIM:214500
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Nail dystrophy, Follicular hyperplasia, Skin ... OMIM:615934
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:257200
Poikiloderma With Neutropenia
Sparse eyebrow, Carious teeth, Recurrent pneumonia, Sparse lateral eyebrow, Long philtrum, Retrog... OMIM:604173
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Neutropenia, Sho... OMIM:612563
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Hamamy Syndrome
Sparse eyebrow, Hypochromic anemia, Dental malocclusion, Sparse lateral eyebrow, Long philtrum, A... OMIM:611174
Monosomy 22
Retrognathia, Long philtrum, Hepatosplenomegaly, Open mouth, Joint swelling, Aplasia of the thymu... ORPHA:96123
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Netherton Syndrome
Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr... ORPHA:634
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Atopic dermatitis, Webbed neck, Dental malocclusion, Open bite, Mic... OMIM:115150
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Lymphad... OMIM:618048
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Skin rash, Enterocolitis, Thromboc... OMIM:616050
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... OMIM:224120
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Dehydration OMIM:251100
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Pso... OMIM:617237
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eosinophilia, Recurrent respiratory infe... OMIM:618523
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Joint swelling, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomega... ORPHA:85414
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Sparse eyebrow, Webbed neck, Dental malocclusion, Downturned corners of mo... OMIM:616737
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Intrauterine growth retardation, Long philtrum, Dehydration OMIM:618958
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Micrognathia, Oligohydramnios, Intrahepatic bili... OMIM:208085
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Hepatomegaly, Lymphad... ORPHA:158061
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Refractory s... OMIM:557000
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Incontinentia Pigmenti
Supernumerary nipple, Sparse hair, Onychogryposis, Alopecia, Breast aplasia, Breast hypoplasia, R... OMIM:308300
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Long eyelashes, Pustule, Polyhydramnios, Dehydration OMIM:616069
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy, Gingival bleeding OMIM:620514
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion, Small nail OMIM:300210
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Dyskeratosis Congenita
Carious teeth, Periodontitis, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Spa... ORPHA:1775
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Johanson-Blizzard Syndrome
Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Exocrine pancreatic insufficie... ORPHA:2315
Atelis Syndrome 1
Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Thrombocytopenia, Anem... OMIM:620184
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth OMIM:618107
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukoc... ORPHA:514
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Familial Benign Copper Deficiency
Early balding, Acne, Deep philtrum, Anemia, Short stature ORPHA:1551
Spondyloenchondrodysplasia
Pneumonia, Dental malocclusion, Granuloma, Delayed eruption of teeth, Hepatitis, Pancytopenia, Au... ORPHA:1855
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Sparse eyebrow, Webbed neck, Dental malocclusion, Downturned corners of mo... ORPHA:487796
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Sparse eyebrow, Recurrent pneumonia, Dental malocclusion, Widely spaced te... OMIM:619293
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Facial hirsutism, Micrognathia, Splenomegaly, Low pos... OMIM:170100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis,... OMIM:619183
Transaldolase Deficiency
Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Hydrops fetalis, Edema ORPHA:101028
Psoriasis 14, Pustular
Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Oligoarthritis, ... OMIM:614204
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, Open bite, Intrauterine ... ORPHA:1327
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion, Mild short stature OMIM:618292
Idiopathic Trachyonychia
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy a... ORPHA:79153
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Hirsu... OMIM:214150
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Lymphopenia, Recur... OMIM:614868
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Dental malocclusion, Synophrys OMIM:615541
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia, Growth ... ORPHA:79242
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Joint swelling, Skin rash, Increased proportion of CD4-positive T cells, Lymphadeno... OMIM:617099
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Maculopapular... ORPHA:83313
Mevalonic Aciduria
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Fluctua... OMIM:610377
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Combined Immunodeficiency Due To Crac Channel Dysfunction