Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
small nuclear ribonucleoprotein 40 (U5)
Synonyms:
Wdr57,  0610009C03Rik

IMPC Data Collections

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

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.

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 Snrnp40 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 Snrnp40 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D... OMIM:615615
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 102
Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lym... OMIM:301082
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Decreased propo... OMIM:619802
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral can... OMIM:300400
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent... OMIM:615707
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Absence ... OMIM:269840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... OMIM:618986
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Neutrophil... OMIM:619281
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 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Leukopenia, Congenital ag... OMIM:267500
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Recurrent viral infections, Increased circulating antibody level, Increased circulating... ORPHA:169154
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Alopecia, I... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Severe r... ORPHA:276
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Reduced natural kil... OMIM:614493
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... OMIM:613101
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decre... OMIM:618108
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... OMIM:608898
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Immunodeficiency 15A
Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-po... OMIM:618204
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Decreased circulating IgG lev... OMIM:308240
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Alopecia, Recurren... OMIM:603554
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Thrombocytosis, Chronic infect... ORPHA:86841
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Decreased lymphocyte proliferation in response to a... OMIM:619313
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infect... ORPHA:277
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent bacterial infections, Decreased circulating total IgM, Eos... OMIM:243700
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Increased circulating IgA level, Elevated circulating C-reactive protein conce... OMIM:615934
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Chron... ORPHA:75564
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoim... OMIM:614470
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Immunodeficiency 8
Lymphopenia, Recurrent respiratory infections OMIM:615401
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... OMIM:300988
Immunodeficiency 19
Failure to thrive, Lymphopenia, Recurrent respiratory infections, Recurrent otitis media OMIM:615617
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent inf... ORPHA:35078
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Recur... OMIM:600802
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... OMIM:616941
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Recurren... ORPHA:331206
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Splenomegaly, Hyper... OMIM:609981
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemi... OMIM:601457
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Recur... OMIM:607624
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... ORPHA:572
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Neutropenia, Chronic oral candidiasis, Fair hair, Ocular albini... OMIM:608233
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Immunodeficiency 104
Splenomegaly, Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Sterile abscess, Throm... OMIM:604416
Immunodeficiency 64
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... OMIM:618534
Immunodeficiency 40
Lymphopenia OMIM:616433
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Lymphadenitis, Severe v... ORPHA:331235
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Absence of CD8-positive T cells, Recu... OMIM:608957
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... ORPHA:2442
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, T... OMIM:615607
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Type I diabetes mellitus, Recurrent viral infections, Decreased proportion of ... OMIM:606367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, T lymphocytopenia, Increased circulating IgM ... OMIM:242860
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... ORPHA:217390
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
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
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell recept... OMIM:602450
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Absence of lymph node germinal center, Panhypogammaglobulinemia, Pancy... ORPHA:79124
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:618048
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Abnormal hair morphology, Decreased circulati... OMIM:208900
Syndromic Diarrhea
Lymphopenia, Woolly hair, Brittle hair, Splenomegaly, Small for gestational age, Generalized hypo... ORPHA:84064
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 25
Recurrent candida infections, Autoimmune hemolytic anemia, Increased circulating IgA level, Eosin... OMIM:610163
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Re... OMIM:226300
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... OMIM:603553
Thrombocythemia 3
Thrombocytosis OMIM:614521
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Neutropenia in pres... OMIM:613179
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, L... ORPHA:100024
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic... OMIM:618213
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... OMIM:618982
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:540
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Recurrent bronchopulmonary infections, Pyoderma, Aplasia of the t... OMIM:242700
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Hypopigment... ORPHA:100
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... OMIM:618969
Thrombocythemia 2
Thrombocytosis OMIM:601977
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia, Neonatal hypoproteinem... OMIM:152800
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocytosis, Splenomegaly, H... OMIM:615688
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Melanocytic nevus ORPHA:3319
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Typ... OMIM:616860
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Wiskott-Aldrich Syndrome
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Recurrent otitis media,... ORPHA:444463
Poems Syndrome
Increased circulating antibody level, Hypertrichosis, Leukonychia, Abnormality of the endocrine s... ORPHA:2905
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytosis, Splenom... OMIM:301078
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Spl... OMIM:102700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Abnormal hair quantity, Hypoproteinemia, Lymphopenia ORPHA:1116
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Alopecia, Decreased circulating cortisol level, Sep... ORPHA:293978
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections, Obesity OMIM:605309
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG le... OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... OMIM:224120
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Decreased circulating IgG level, Leukocytos... OMIM:618278
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... OMIM:619381
Reticular Dysgenesis
Failure to thrive, Sepsis, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circula... ORPHA:33355
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia... OMIM:619693
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:158061
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Adrenal insufficiency, Splenomegaly, Extra... ORPHA:231226
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Recurrent lower r... OMIM:612541
Trichohepatoenteric Syndrome 1
Failure to thrive, Woolly hair, Sparse hair, Brittle hair, Splenomegaly, Small for gestational ag... OMIM:222470
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Alopecia, Iron deficiency anemi... OMIM:212750
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased circulating IgG level, Decreased proportion of class-switched memory... OMIM:615767
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... OMIM:616740
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Type I diabetes m... OMIM:614700
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, D... OMIM:619767
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Agammaglobulinemia, X-Linked
Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulating IgA level, Pyoderma, ... OMIM:300755
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, Decreased circu... OMIM:308230
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Recurrent bacteri... OMIM:240500
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Hyperpi... OMIM:604250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent bacteri... OMIM:209920
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Seps... OMIM:616100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired ... OMIM:258900
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral... OMIM:114580
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Brucellosis
Failure to thrive, Elevated circulating C-reactive protein concentration, Orchitis, Leukocytosis,... ORPHA:1304
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Immunodeficiency 37
Recurrent infections, Decreased proportion of central memory CD4-positive, alpha-beta T cells, De... OMIM:616098
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... OMIM:601495
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Immunodeficiency 68
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Recurrent meningitis, Abnor... OMIM:612260
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent bacterial infections, E... ORPHA:486
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Vici Syndrome
Failure to thrive, Recurrent fungal infections, Decreased circulating IgG level, Ocular albinism,... OMIM:242840
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia, Weight loss ORPHA:134
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Splenomegaly, Hypopigmentation of the skin, Increased erythr... ORPHA:79277
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Chronic mucocutaneous candidiasis, Delayed puberty, Diabetes mellitu... OMIM:614162
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Brittle hair, Tiger tail banding... OMIM:616395
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hypergonadot... OMIM:212065
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Weight loss, Hyperuricemia, Anemia ORPHA:20
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Thrombocytope... OMIM:617591
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive OMIM:604273
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Griscelli Syndrome
Abnormal eyebrow morphology, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... ORPHA:381
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... ORPHA:231154
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, T... ORPHA:507
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Recurrent infections, Neutropenia, Lymphadenopathy OMIM:617827
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Cryptorchidism, Monocytosis, Recurrent infections OMIM:610680
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Fine hair, Agammaglobulinemia, Anemia, Recurrent respiratory infections, White hair ORPHA:935
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Persistent EBV viremia, Decreased proportion of class... OMIM:619126
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent ... OMIM:616576
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Low anterior hairline, Small for gestational age,... ORPHA:124
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Hypermelanotic macule, Small for gestational age, Anemia, Coarse hair, ... OMIM:242900
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection, Cryptococcal meningitis OMIM:618309
Icf Syndrome
Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Recurrent ... ORPHA:2268
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Dec... OMIM:616084
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... ORPHA:324636
Immunodeficiency 23
Failure to thrive, Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgE lev... OMIM:615816
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Sepsis, Elevated circulating creatine kinase concentr... ORPHA:94093
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, B lymphocy... OMIM:251260
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Lymphopenia, Hypermelanotic macule, Small for gestational age,... ORPHA:1830
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality of ... ORPHA:848
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigment... OMIM:214500
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Abnormality of neutrophil physiology, Leuk... ORPHA:2968
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Griscelli Syndrome Type 2
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial al... ORPHA:79477
Interstitial Lung And Liver Disease
Failure to thrive, Hyperammonemia, Intraalveolar phospholipid accumulation, Hypothyroidism, Throm... OMIM:615486
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia, Abno... ORPHA:760
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Sepsis, Hypoplasia of the thymus, Abnormal platelet ... ORPHA:906
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Decreased response to growth hormone stimulation test, Pyod... OMIM:307200
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... OMIM:300291
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Recurrent bronchitis, D... ORPHA:1572
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatosplenomegal... OMIM:618935
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia ORPHA:71493
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Popov-Chang syndrome
Failure to thrive, Lymphopenia, Coarse hair, Decreased circulating antibody level, Recurrent otit... OMIM:618428
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Decreased proportion of CD4-positive h... ORPHA:543
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight ... ORPHA:88673
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, H... ORPHA:846
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Elevated circulating long chain fatty acid concentration, Hypoplasia of the th... OMIM:214110
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Increased propo... ORPHA:167
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Sepsis, Leukopenia, Thrombocytopenia ORPHA:319218
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Elevated ... OMIM:614576
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Severe infection, Eosinophilia, Au... OMIM:304790
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair ORPHA:71526
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature graying of hair, Lymphopenia, Sparse hair, Reticular hyperpigmentation, Alop... OMIM:127550
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Cryptorchidism, Sp... OMIM:620005
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreas... OMIM:619375
Cyclic Neutropenia
Lymphopenia, Opportunistic infection, Cervical lymphadenopathy, Severe infection, Sepsis, Recurre... ORPHA:2686
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test OMIM:618624
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproli... ORPHA:3260
Thymoma
Abnormal lymphocyte physiology, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell a... ORPHA:99867
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Elevated circulating C-reactive protein concentrat... OMIM:617099
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Failure to thrive, Sparse scalp hair, Premature graying of hair, G... ORPHA:3322
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Albini... OMIM:614072
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Cryptorchidism, Hypergonadotropic hypo... OMIM:617053
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hyperpigmented nevi, Decreased serum testosterone concentration, Small ... ORPHA:2959
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... OMIM:614878
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Failure to thrive, Decreased serum testosterone concentration, Sple... OMIM:201100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Recurrent upper respiratory tract infections, Leukopenia, B lymphocytopenia, Recurre... ORPHA:508542
Whim Syndrome
Lymphopenia, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections... ORPHA:51636
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:617425
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Hypoplasia of the thymus, Peritoneal abscess, Rectal abscess, Type I... ORPHA:436252
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Cartilage-Hair Hypoplasia
Lymphopenia, Sparse hair, Sparse eyebrow, Congenital hypoplastic anemia, Fair hair, Sparse eyelas... OMIM:250250
Bloom Syndrome
Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Abscess, Abdominal obesit... ORPHA:125
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Recurrent urinary tract infections, Decrea... ORPHA:90045
Diamond-Blackfan Anemia 1
Failure to thrive, Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, ... OMIM:105650
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail, Small for gestational age ORPHA:621
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Anisopoikilocytosis, Abnormal... ORPHA:231214
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Recurrent urinary tract infections, Mediastinal lymphaden... ORPHA:169105
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased mean corpuscular volume, Anemia of inadequate production, Hypoparathyro... ORPHA:231222
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Cholelithiasis, Anemia of inadequate production, In... ORPHA:3202
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Decreased circulating parathyroid hormone level, Hypocalcemia, ... OMIM:188400
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss ORPHA:2221
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antib... ORPHA:391487
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Lead Poisoning
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... ORPHA:330015
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hypogo... OMIM:617575
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Recurrent respiratory inf... OMIM:615758
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Alopecia, Sepsis, Decreased prealbumin level, Type I diabetes mellitus... ORPHA:37042
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Sepsis, Elevated circulating ... ORPHA:454836
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Erythrocytosis, Familial, 5
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:617907
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Elevated circulating C-reactive protein concentration, Hypokalemia, ... OMIM:619573
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... ORPHA:3437
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Abnormal toenail morphology, Anemia, Recurrent respirator... ORPHA:30
Cowden Syndrome 1
Hydrocele testis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Decreased circulati... OMIM:158350
Spondyloenchondrodysplasia With Immune Dysregulation
Hypopigmented skin patches on arms, Neutropenia, Lymphopenia, Hypermelanotic macule, Autoimmune t... OMIM:607944
Erythrocytosis, Familial, 2
Failure to thrive, Elevated circulating erythropoietin concentration, Increased hematocrit, Incre... OMIM:263400
Legionnaires Disease
Lymphopenia, Splenomegaly, Sepsis, Recurrent pharyngitis, Infectious encephalitis, Hyponatremia, ... ORPHA:549
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... OMIM:275350
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Nail dystrophy, Neu... OMIM:613989
Immunodeficiency 49
Hirsutism, Eosinophilia, Lymphopenia OMIM:617237
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Shwachman-Diamond Syndrome 1
Failure to thrive, Neutropenia, Small for gestational age, Persistence of hemoglobin F, Recurrent... OMIM:260400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, HbH hemoglobin, Cryptorc... ORPHA:98791
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Recurrent upper respiratory tract infections, Recurrent lowe... OMIM:233600
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411515
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Seco... ORPHA:90363
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Failure to thrive, Hypocalcemia, Abnormality of thrombocytes,... ORPHA:567
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Abcd Syndrome
Polycythemia, Large for gestational age, Albinism, White eyelashes, White eyebrow OMIM:600501
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Synophrys ORPHA:391307
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Recurrent upper respiratory tract infections, Recurrent pneumonia, O... OMIM:619769
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Eec Syndrome
Thick eyebrow, Decreased response to growth hormone stimulation test, Sparse eyebrow, Generalized... ORPHA:1896
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocyto... ORPHA:88
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Cryptorchidism, Sparse hair, Abnormal circulating lipid concentration, Truncal obesi... OMIM:616541
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Alopecia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphaden... ORPHA:93552
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Thrombocy... OMIM:617718
Treacher-Collins Syndrome
Failure to thrive, Low anterior hairline, Hypoplasia of the thymus, Abnormality of the adrenal gl... ORPHA:861
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Livedoid Vasculopathy
Graves disease, Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperpigmen... ORPHA:542643
Immunodeficiency 58
Cutaneous abscess, Onychomycosis, Failure to thrive, Recurrent upper respiratory tract infections... OMIM:618131
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Lymphangioma, Splenomegaly, Sparse axillary hair, Pulmonary lymphangie... ORPHA:2136
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Decreased circulating total IgM, Severe B lymphocytopenia, Coa... ORPHA:83617
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Obesity, Fair hair, Blue irides OMIM:614613
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Failure to thrive, Increased serum testosterone level, Absent eyebrow, Sparse ... OMIM:264090
Primary Sjögren Syndrome
Increased circulating antibody level, Lymphopenia, Leukopenia, Normocytic anemia, Thrombocytopeni... ORPHA:289390
Doors Syndrome
Low anterior hairline, Toenail dysplasia, Congenital hypothyroidism, Abnormal fingernail morpholo... ORPHA:79500
Fusariosis
Onychomycosis, Unusual CNS infection, Lymphopenia, Invasive fungal infection, Paronychia, Brain a... ORPHA:228119
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Marburg Hemorrhagic Fever
Increased circulating antibody level, Hypokalemia, Lymphopenia, Orchitis, Hyperammonemia, Severe ... ORPHA:99826
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Supernumerary nipple, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemo... OMIM:141750
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Noonan Syndrome 14
Lymphopenia, Sparse hair, Sparse eyebrow, Cryptorchidism, Curly hair, Low posterior hairline OMIM:619745
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Lujo Hemorrhagic Fever
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Sev... ORPHA:319213
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, N... OMIM:222800
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Monosomy 22
Sparse hair, Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia, Synophrys ORPHA:96123
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Splenomegaly OMIM:618541
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... OMIM:618156
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Cryptorchidism, Recurrent urinary tract infections, Infectious encephalitis,... ORPHA:847
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Splenomegaly, Mediastinal lymphadenopathy, Abnormal salivar... OMIM:181000
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Proteus-Like Syndrome
Irregular hyperpigmentation, Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplas... ORPHA:2969
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Cushing Disease
Abdominal obesity, Sparse scalp hair, Hirsutism, Paradoxical increased cortisol secretion on dexa... ORPHA:96253
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Degcags Syndrome
Hypertrichosis, Long eyelashes, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Rec... OMIM:619488
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased hematocrit, Glucagonoma, Increased c... ORPHA:100076
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Cryptorchidism, Hypopigmentation of hair, Iris hypopigmentation, Anemia ORPHA:2719
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411511
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Microsporidiosis
Adrenocortical abnormality, Cachexia, Sepsis, Lymphadenitis, Brain abscess, Abnormality of the pa... ORPHA:2552
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia OMIM:619708
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... ORPHA:177901
Prader-Willi-Like Syndrome
Central adrenal insufficiency, Decreased inhibin B level, Abnormality of the endocrine system, Pr... ORPHA:398073
Velocardiofacial Syndrome
Hypoparathyroidism, Hypocalcemia, Impaired T cell function, Recurrent infections, Cryptorchidism OMIM:192430
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384
Proteus Syndrome
Generalized hirsutism, Abnormality of retinal pigmentation, Ovarian neoplasm, Irregular hyperpigm... ORPHA:744
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Primary hypothyroidism, ... OMIM:219800
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Decreased response to growth hormone st... ORPHA:739
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Splenomegaly, Hypopigmentation of hair, Heterochromia iridis, Premat... ORPHA:163746
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Hypocalcemia, Diabetes mellitus, Abnormality of T cell physiology, Parathyroi... ORPHA:2237
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Hypocalcemia, Fair hair, Decreased response to growth hormone stimulation te... ORPHA:280651
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function, Delayed puberty, Diabetes mellitus, Recurren... OMIM:176690
Charge Syndrome
Hypoparathyroidism, Hypocalcemia, Lymphopenia, Decreased response to growth hormone stimulation t... OMIM:214800

Histopathology

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

There is no histopathology data for Snrnp40

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Snrnp40.

No publications found that use IMPC mice or data for Snrnp40.

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MGI Allele Allele Type Produced
Snrnp40tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Snrnp40tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Snrnp40em1(IMPC)Bay Exon Deletion Mice

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