Gene: Snrnp40 MGI:1913835

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
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
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 20
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zoster infec... OMIM:615707
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Generalized lymphadenopathy, Neutropenia, P... OMIM:618986
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619281
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, BCGosis, Leukocytosis, Pancytopenia... OMIM:618963
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infections, Abnorma... ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD4-positive helper T cells, Decreased circulating ... OMIM:312863
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Recurrent viral infection... OMIM:603554
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Thrombocytosis, Periungual erythema, Sparse hair, Increased circul... OMIM:615934
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopeni... OMIM:300853
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent tonsils, Increased circulating IgE ... ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency 8
Lymphopenia, Recurrent respiratory infections OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Immunodeficiency 19
Lymphopenia, Recurrent otitis media, Recurrent respiratory infections, Failure to thrive OMIM:615617
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eosinophilia, ... ORPHA:331206
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Immunodeficiency 54
Recurrent viral infections, Adrenocorticotropic hormone excess, Reduced natural killer cell count... OMIM:609981
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Recurrent bacterial skin infections, Abnormality of the lymph nodes, Lymphadenopat... ORPHA:911
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Albinism, Recurrent bacterial infections, Chronic oral candidiasis, Reduced ... OMIM:608233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Failure to thrive in infancy,... OMIM:606367
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Abnormal hair morpholo... OMIM:208900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Low posterior hairline, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulat... ORPHA:221139
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent bacterial skin infections, Recurren... ORPHA:217390
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Panhypogammaglobulinemi... ORPHA:79124
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent respiratory infections, Absence of CD8-positive T cells, Re... OMIM:608957
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B... OMIM:601495
Syndromic Diarrhea
Hypopigmentation of hair, Thrombocytosis, Abnormality of iron homeostasis, Hypothyroidism, Lympho... ORPHA:84064
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Recurrent otitis media, Herpes simplex encephalitis, Molluscum c... OMIM:618982
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Alopecia, Nail dys... OMIM:601705
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of... OMIM:615631
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Nail dystrophy, Recurren... OMIM:618806
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Abnormal B cell count, Anemia, Splenomegaly, L... ORPHA:100024
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increa... OMIM:610163
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Increased circulating guanosine concen... OMIM:613179
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG lev... OMIM:152800
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Re... OMIM:226300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Decreased circul... ORPHA:100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recurrent otitis... OMIM:615688
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Increased serum interferon-gamma ... ORPHA:540
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Melanocytic nevus, Abnormal hemoglobin, Anemia ORPHA:3319
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Persistent EBV viremia... OMIM:613011
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, B lymphocytopenia, ... OMIM:619164
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism, Recurrent bronchopulmonary infections ORPHA:90023
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Leukonychia, Primary adrenal ... ORPHA:2905
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Pyoderma, Recurrent bronchopulmonary infections, Abnormal T c... OMIM:242700
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent infections, Splenomegaly, Obesity OMIM:605309
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormality of the periungual region, Decreased serum insulin-like grow... ORPHA:293978
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Immunodeficiency 13
T lymphocytopenia, Recurrent upper respiratory tract infections, Lymphopenia, Decreased proportio... OMIM:615518
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Thyroiditis, Weight loss, Delayed puberty, ... OMIM:212750
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Failure t... OMIM:615767
Immunodeficiency, Common Variable, 8, With Autoimmunity
Vitiligo, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lymphaden... OMIM:614700
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocythemia 3
Thrombocytosis OMIM:614521
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Vitiligo, Chronic oral candidiasis, Recurrent gastroenteritis... ORPHA:275
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Hyperpigmentation of the ... OMIM:604250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Chronic oral candidia... OMIM:150550
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly, Recu... OMIM:616005
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:616100
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypothyroidism, Hypocholesterolemia, Decreased ci... OMIM:212065
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Panh... OMIM:209920
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Fa... OMIM:258900
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Alopecia, Chronic mucocutaneous candidiasis, Abnorm... OMIM:114580
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Recurrent meningitis, B lym... OMIM:612260
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Brucellosis
Lung abscess, Thrombocytosis, Increased circulating IgM level, Leukocytosis, Orchitis, Granuloma,... ORPHA:1304
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Trichorrhexis nodosa, Sparse hair, Curly hair, H... OMIM:222470
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Hyperammonemia ORPHA:134
Vici Syndrome
Cutaneous anergy, Hypopigmentation of hair, Albinism, Recurrent fungal infections, Abnormality of... OMIM:242840
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Coarse ... OMIM:242900
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Recurrent ... ORPHA:79277
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Recurrent viral infections, Recurrent sinopulmon... ORPHA:486
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:66628
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Anemia, Leukopenia, Hyperammonemia ORPHA:20
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Recurrent infections, Failure to thrive, ... OMIM:618048
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:179494
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemi... OMIM:618849
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Chronic mucocutaneous ... OMIM:614162
Progressive Multifocal Leukoencephalopathy
Meningitis, Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T c... ORPHA:217260
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Recurr... OMIM:617591
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Pancytopenia, ... ORPHA:507
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... OMIM:618394
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Recurrent infections, Fa... OMIM:618278
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, White hair, Agammaglobulinemia, Anemia, Fine hair, Recurrent respiratory infections ORPHA:935
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Recurrent infections, Failure to thrive OMIM:610680
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia, Recurrent ... ORPHA:2268
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Abnormal erythrocyte morphology, Autoimmune thrombocy... ORPHA:324636
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Low anterior hairline, Pure re... ORPHA:124
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Persistent EBV viremia, Follicular hyperpl... OMIM:619126
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent bronchitis, Autoimmune hemolytic anemia, Recurrent urinary tract inf... OMIM:251260
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypouricemia, Decreased proportion of C... ORPHA:760
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Thyroidit... ORPHA:99867
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Recurrent sta... OMIM:615816
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Recurrent tonsillitis, Thrombocytosis, Hyperinsulinemic hypoglycem... ORPHA:2968
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Spl... ORPHA:848
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Paronychia, Impaired T cell function, Alopecia of scalp, Decreased serum testosterone concentrati... OMIM:201100
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Schimke Immuno-Osseous Dysplasia
Hypermelanotic macule, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportio... ORPHA:1830
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Recur... OMIM:214500
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Common Variable Immunodeficiency
Recurrent bronchitis, Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibo... ORPHA:1572
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymp... ORPHA:90362
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media, Coarse hair, Failure t... OMIM:618428
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Hyperuricemia, Abn... ORPHA:543
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Anemia, Splenomegaly, Hypersplenism, Abnorma... ORPHA:846
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymphopenia, Abnormality of ... ORPHA:90363
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Elevated circulating long chain fatty a... OMIM:214110
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Recurrent bacterial skin in... ORPHA:167
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Wiskott-Aldrich Syndrome
Sepsis, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Recurren... ORPHA:906
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Weight loss, Thrombocytopenia, Hy... ORPHA:88673
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh... OMIM:250250
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Reticular hyperpigmentation, Premature graying of hair, Sparse hair, Lymphopenia, Ridg... OMIM:127550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Tooth abscess, Lymphadenopathy, T... ORPHA:2686
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Failure to thrive, Childhood-onset truncal obesity, Hypopigmentation of the skin, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Failure to thrive, Childhood-onset truncal obesity, Hypopigmentation of the skin, Obesity ORPHA:71526
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Thrombocytopenia, Impaired T... OMIM:614576
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Anemia, Splenomegaly... ORPHA:3260
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Hypoplasia of the thymus OMIM:243150
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Failure to thrive in infancy, Increased proportion... OMIM:617099
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Recurrent urinary tract infections, ... OMIM:617053
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hypergonadotropic hypogonadism, Recurrent viral infections,... ORPHA:2959
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Recurrent infections, Eosinophilia OMIM:617425
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:177910
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Lymphopenia, Neutropenia, Reticulocytopenia, Thromb... ORPHA:508542
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Whim Syndrome
Vitiligo, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Lymphaden... ORPHA:51636
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Bloom Syndrome
Severe toxoplasmosis, Recurrent urinary tract infections, Small for gestational age, Recurrent he... ORPHA:125
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Sparse hair, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Absent eyebr... ORPHA:436252
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, P... ORPHA:90045
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimuation test OMIM:618624
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Thrombocytopenia, Sparse scalp h... ORPHA:3322
Good Syndrome
Decreased circulating antibody level, Recurrent urinary tract infections, Aplasia/Hypoplasia of t... ORPHA:169105
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Hypothyroidism, Extra... ORPHA:231222
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Recurrent Aspergillus infections, Autoimmune thrombocytopenia, Recurrent upper ... ORPHA:391487
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypertriglyceridemia, Adrenal insufficiency, Hypoalb... OMIM:617575
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Weight loss, Generalized hirsutism, Fine hair ORPHA:2221
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Thyroiditis, Neutropenia, Failure to thrive in infancy,... ORPHA:37042
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Recurrent respiratory infections, Failure to... OMIM:615758
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Failure to thrive,... OMIM:275350
Legionnaires Disease
Lymphopenia, Hyponatremia, Encephalitis, Splenomegaly, Recurrent pharyngitis, Sepsis, Bone marrow... ORPHA:549
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Decreased circulating antibody level, Lymphopenia, Thyroi... OMIM:158350
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Vitiligo, Hypopigmented skin patches on arms, Autoimmune thrombocytopenia, Hyp... OMIM:607944
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly, Abnormal toenail morphology, Recurrent respirator... ORPHA:30
Avian Influenza
Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Meningitis, En... ORPHA:454836
Lead Poisoning
Increased circulating IgE level, Decreased circulating osteocalcin level, Abnormal T cell morphol... ORPHA:330015
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Immunodeficiency 49
Lymphopenia, Hirsutism, Eosinophilia OMIM:617237
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Microcytic anemia, HbH hemoglobin, Failure to thrive, Aplasia/Hypoplasia of the e... ORPHA:98791
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency, Synophrys ORPHA:391307
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:411515
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypocalcemia, Hypothyroidism, Cholelithiasis, Hypopigmented skin patches, Thrombo... ORPHA:567
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail, Small for gestational age ORPHA:621
Eec Syndrome
Nail pits, Coarse hair, Slow-growing hair, Hypoplasia of the thymus, Thick eyebrow, Sparse and th... ORPHA:1896
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, Anemia, Bon... ORPHA:88
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Sparse hair, Hypothyroidism, Lymphopenia, Abnormal circulating lipid concentratio... OMIM:616541
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Recurrent infections, Failure to... OMIM:617718
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Leukopenia, Alopecia, Lymphaden... ORPHA:93552
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Livedoid Vasculopathy
Graves disease, Leukocytosis, Polycythemia, Abnormal circulating lipid concentration, Pancytopeni... ORPHA:542643
Treacher-Collins Syndrome
Cryptorchidism, Low anterior hairline, Absent eyelashes, Abnormal hair morphology, Hypoplasia of ... ORPHA:861
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Hennekam Syndrome
Hypocalcemia, Decreased circulating antibody level, Lymphopenia, Sparse axillary hair, Pulmonary ... ORPHA:2136
Immunodeficiency 58
Cutaneous abscess, Recurrent upper respiratory tract infections, Helicobacter pylori infection, D... OMIM:618131
Doors Syndrome
Low anterior hairline, Thrombocytosis, Absent fingernail, Malalignment of the great toenail, Cong... ORPHA:79500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Coarse hair, Cholelithiasis, Biliary hyperplasia, Pancr... ORPHA:83617
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Primary Sjögren Syndrome
Vitiligo, Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cel... ORPHA:289390
Fusariosis
Lung abscess, Lymphopenia, Unusual CNS infection, Granuloma, Neutropenia, Onychomycosis, Paronych... ORPHA:228119
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides, Obesity OMIM:614613
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio... OMIM:141750
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cryptosporidiosis
Decreased proportion of CD4-positive helper T cells, Abnormal T cell count, Failure to thrive, We... ORPHA:1549
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Sparse hair, Synophrys, Hepatosplenomegaly ORPHA:96123
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Recurrent urinary tract infections, Encephalitis, Anemia, Abnormal hemoglobin ORPHA:847
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Bilater... OMIM:618156
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Normochromic an... OMIM:222800
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Enlarged lacrimal glands, Increased circulating antibody level,... OMIM:181000
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Proteus-Like Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Polycystic ovaries, Abnormality of the parathy... ORPHA:2969
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Neutropenia, Weight loss, Ocu... ORPHA:79430
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin OMIM:301040
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Intestinal carcinoid, Increased hematocrit, Elevated circulating growth h... ORPHA:100076
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism, Anemia ORPHA:2719
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:411511
Microsporidiosis
Sepsis, Adrenocortical abnormality, Bronchiolitis, Lymphadenitis, Thyroiditis, Decreased proporti... ORPHA:2552
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Premature pubarche, Prem... ORPHA:398079
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177901
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384
Velocardiofacial Syndrome
Cryptorchidism, Hypocalcemia, Impaired T cell function, Recurrent infections, Hypoparathyroidism OMIM:192430
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:398073
Proteus Syndrome
Generalized hirsutism, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cen... ORPHA:744
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypopigmentation of hair, Male hypogonadism, Pigmentary retinopathy, ... OMIM:219800
Prader-Willi Syndrome
Cryptorchidism, Hypopigmentation of hair, Premature pubarche, Premature adrenarche, Small pituita... ORPHA:739
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Digeorge Syndrome
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypothyroidism, Cholelithiasis, Im... OMIM:188400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemia, Parathyroid hypoplasia, Diabetes mellitus, Hypopa... ORPHA:2237
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Hypocalcemia, Red hair, Pseudohypoparathyroidism, Decreased response to growth ho... ORPHA:280651
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function, Delayed puberty, Small for gestational age,... OMIM:176690
Charge Syndrome
Cryptorchidism, Gonadotropin deficiency, Hypocalcemia, Hypothyroidism, Lymphopenia, Aplasia/Hypop... OMIM:214800
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hirsutis... ORPHA:1359
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354

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
Snrnp40tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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