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Gene: Nlk MGI:1201387

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Gene Summary

Name:
nemo like kinase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nlktm2b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Nlktm2b(KOMP)Wtsi HET   Early adult 4.88×10-05
abnormal auditory brainstem response Nlktm2b(KOMP)Wtsi HET   Early adult 6.09×10-06
increased startle reflex Nlktm2b(KOMP)Wtsi HET Early adult 2.53×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Nlk 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 Nlk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocyto... OMIM:616050
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Immunodeficiency 85 And Autoimmunity
Growth delay, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia... OMIM:619510
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Pyknoachondrogenesis
Stillbirth OMIM:265880
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Growth delay, Hemiplegia, Decreased proportion of CD4-positive helper T cells, Redu... OMIM:243700
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Pgm3-Cdg
Hemolytic anemia, Short stature, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Cernunnos-Xlf Deficiency
Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia ORPHA:169079
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred... OMIM:208900
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Mirage Syndrome
Short stature, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia, Cryptorchidi... OMIM:617053
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Ataxia, Portal hypertension, Growth delay, Hepatic fibrosis, Bone marrow hypocellul... OMIM:617341
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Impaired pain sensation ORPHA:2582
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia OMIM:185070
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Short stature OMIM:242860
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Bone Marrow Failure Syndrome 4
Rhizomelia, Short stature, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Immunodeficiency 95
Lymphopenia OMIM:619773
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Thromboc... OMIM:243150
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... ORPHA:543
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Ataxia, Abnormal testis morphology, Tremor, Polycystic ovaries,... ORPHA:100
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Anemia, Bone marrow hypocellularity, Thrombo... OMIM:616435
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet... OMIM:608233
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypoce... OMIM:619151
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Short stature OMIM:602361
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Griscelli Syndrome
Hepatomegaly, Short stature, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatiti... ORPHA:381
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Macrophage Activation Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Immunodeficiency 9
Hypoplasia of the thymus, Difficulty walking OMIM:612782
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... OMIM:614034
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Leuko... OMIM:615190
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Lymphadenitis, Sp... OMIM:618935
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Abnormal T cell subset distribution, B lymphocytopenia, Positive Romberg sign, Decreased ... ORPHA:221139
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... ORPHA:158048
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, T-cell acute lymphoblastic leukemias, Bone marrow hypocell... OMIM:605724
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Short stature, Lymphadenopathy OMIM:607271
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia OMIM:614743
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia OMIM:616744
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ... ORPHA:760
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity OMIM:609054
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 44
Lymphopenia OMIM:616636
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... OMIM:614742
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Syndromic Diarrhea
Hepatomegaly, Short stature, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Abnorm... ORPHA:84064
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Ataxia, Anemia, Hypertonia, Bone marrow hypocellula... ORPHA:3322
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Intrauterine growth retardation, Abnormal natural killer cell morphology, B lymphocytopenia, T ly... OMIM:615966
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Growth delay, Hepatosplenomegaly, Anemia OMIM:607115
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... OMIM:214110
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... ORPHA:210136
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ... OMIM:617237
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hypertonia, Hemophagocytosis... ORPHA:79477
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Sneddon Syndrome
Tremor, Lymphopenia, Hemiplegia, Impaired distal tactile sensation OMIM:182410
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... ORPHA:169160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Intrauterine growth r... OMIM:601186
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Abnormal pyramidal sign, Spasticity, Opisthotonus, Growth delay, Choreoathetosis,... ORPHA:445038
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Torticollis, Hypoplasia of the thymus OMIM:617022
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Ataxia, Cryptorchidism, Growth delay, Leukopenia, B... OMIM:613990
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:616553
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Type I diabetes... ORPHA:436252
Legionnaires Disease
Ataxia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphope... ORPHA:549
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscul... OMIM:127550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Short stature, Decreased response to growth hormone stimulation test, Aplasia... OMIM:618223
Diamond-Blackfan Anemia 11
Short stature, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Leukopenia, B lymp... ORPHA:508542
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Macrovesicular hepatic ste... OMIM:616433
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Hepatic fibrosis, Bone marrow hypocellu... OMIM:613989
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Macrocephaly/Autism Syndrome
Speech apraxia, Hepatomegaly, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Glycogen Storage Disease Ixc
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... OMIM:613027
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy... ORPHA:288
Schimke Immuno-Osseous Dysplasia
Short stature, Abnormality of thyroid physiology, Thrombocytopenia, Disproportionate short-trunk ... ORPHA:1830
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatospleno... OMIM:615688
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia OMIM:620365
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Short stature, Ataxia, Cryptorchidism, Dysmetria, Dysdiadoch... OMIM:616541
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Autoimmune thrombocytopenia, Spastic diplegia, Lymphadenopathy, T lymphocytopenia,... OMIM:607944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity OMIM:618674
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Short stature ORPHA:391307
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Growth delay, Decreased proportion of ... ORPHA:90362
Fanconi Anemia, Complementation Group R
Growth delay, Bone marrow hypocellularity, Anemia OMIM:617244
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Trichothiodystrophy 3, Photosensitive
Short stature, Bilateral cryptorchidism, Hypertonia, Neutropenia, Intrauterine growth retardation... OMIM:616395
Cutis Laxa, Autosomal Recessive, Type Ic
Growth delay, Adrenal hypoplasia, Hypoplasia of the thymus, Accessory spleen OMIM:613177
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Icf Syndrome
Anemia, Lymphopenia, Short stature, Abnormality of neutrophils ORPHA:2268
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Anemia, Abn... OMIM:612199
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... OMIM:240300
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Reni Syndrome
Ataxia, Cryptorchidism, Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism OMIM:617575
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Ataxia, Postnatal growth r... OMIM:616113
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Revesz Syndrome
Aplastic anemia, Ataxia, Hypertonia, Bone marrow hypocellularity, Intrauterine growth retardation OMIM:268130
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality of the endoc... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Ataxia, Bone marrow hypocellularity OMIM:616353
Immunodeficiency 23
Hemolytic anemia, Somatic sensory dysfunction, Ataxia, Eosinophilia, Abscess, Myoclonus, Neutrope... OMIM:615816
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thromboc... ORPHA:93552
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorch... OMIM:603467
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... ORPHA:167
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Inability to walk, Leukopenia, Macrovesicular hepat... OMIM:617303
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... ORPHA:99027
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Broad-based gait, Short stature, Hypergonadotropic hypogonadism, Microc... ORPHA:2959
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Elevated circulating thy... OMIM:242900
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Bone marrow hypocellularity... OMIM:609053
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Short stature, Ataxia, Postnatal growth retardation, Jaundice, Spas... ORPHA:168577
Eec Syndrome
Hypoplasia of the thymus, Anterior hypopituitarism, Short stature, Decreased response to growth h... ORPHA:1896
Digeorge Syndrome
Short stature, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocyto... OMIM:188400
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutrop... ORPHA:51636
Osteopetrosis, Autosomal Dominant 2
Facial paralysis, Bone marrow hypocellularity OMIM:166600
Treacher-Collins Syndrome
Cryptorchidism, Blepharospasm, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyro... ORPHA:861
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Pancreatic steatosis, Throm... OMIM:617052
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Re... OMIM:227645
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Short stature, Abnormality of the tonsils, Splenomegaly, Cry... ORPHA:567
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Disproportionate short stature, Eosinophilia, Hepatic cysts OMIM:617425
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Fanconi Anemia, Complementation Group Q
Growth delay, Bone marrow hypocellularity, Short stature, Biliary atresia OMIM:615272
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Monosomy 22
Hypertonia, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... OMIM:250250
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism... OMIM:620005
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Thrombocytopenia, Cervical lymphadenopathy, Sp... ORPHA:50918
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... ORPHA:228119
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Cowden Syndrome 1
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid ... OMIM:158350
Camurati-Engelmann Disease
Waddling gait, Bone marrow hypocellularity, Anemia, Delayed puberty OMIM:131300
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Increased blood urea nitrogen, Macrot... ORPHA:90321
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Dysmetria, Lymphopenia, Intention tremor OMIM:619708
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Cranioectodermal Dysplasia 4
Short stature, Bone marrow hypocellularity OMIM:614378
Vici Syndrome
Postnatal growth retardation, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutrope... OMIM:242840
Wiedemann-Rautenstrauch Syndrome
Short stature, Cryptorchidism, Increased serum testosterone level, Hypertonia, Hypoplasia of the ... OMIM:264090
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Abnormal liver lobulation, Cryptorchidism ORPHA:99776
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Disproportionate s... ORPHA:508533
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Avian Influenza
Leukopenia, Lymphopenia, Hepatitis, Thrombocytopenia ORPHA:454836
Hennekam Syndrome
Mild postnatal growth retardation, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lym... ORPHA:2136
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Short stature OMIM:619657
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, ... ORPHA:2785
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Re... OMIM:227646
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia ORPHA:2306
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Short stature, T lymphocytopenia, B lymphocytopenia, Intrauterine gr... OMIM:251260
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Short stature, Ataxia, Thrombocytopenia, Cryptorchidism, Le... OMIM:305000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Short stature, Abnormality of neutroph... ORPHA:1775
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia ORPHA:247353
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocy... ORPHA:505248
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... ORPHA:909
Primary Sjögren Syndrome
Normocytic anemia, Somatic sensory dysfunction, Chronic active hepatitis, Parotitis, Chorea, Bili... ORPHA:289390
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Feingold Syndrome 1
Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas OMIM:164280
Khan-Khan-Katsanis Syndrome
Short stature, Hypertonia, Neutropenia, Intrauterine growth retardation, Lymphopenia, Anemia OMIM:618460
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dystoni... ORPHA:845
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Bone marrow hypocellularity, Anemia OMIM:614083
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:216400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Short stature, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom... OMIM:249000
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Short stature ORPHA:221120
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Marburg Hemorrhagic Fever
Reticulocytosis, Dysesthesia, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... ORPHA:99826
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment ORPHA:79255
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension OMIM:268800
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia OMIM:306955
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Short stature, Thrombocytosis, Perianal abscess, Leukocytosis, Peritoniti... ORPHA:2968
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Greenberg Dysplasia
Hepatomegaly, Rhizomelia, Hepatic calcification, Hepatosplenomegaly, Severe short-limb dwarfism, ... OMIM:215140
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Jacobsen Syndrome
Short stature, Cryptorchidism, Growth delay, Bone marrow hypocellularity, Intrauterine growth ret... ORPHA:2308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Mowat-Wilson Syndrome
Broad-based gait, Short stature, Ataxia, Impaired pain sensation, Asplenia, Inability to walk, Cr... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Impaired pain sensation, Asplenia, Inability to walk, Cryptorchi... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Impaired pain sensation, Asplenia, Inability to walk, Cryptorchi... ORPHA:261552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe OMIM:619522

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 Nlk

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 Nlk.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Correlated evolution between CK1δ Protein and the Serine-rich Motif Contributes to Regulating the Mammalian Circadian Clock. The Journal of biological chemistry (November 2016) Nlktm2c(KOMP)Wtsi Nlktm2a(KOMP)Wtsi PMC5217676
Nemo-Like Kinase (NLK) Is a Pathological Signaling Effector in the Mouse Heart. PloS one (October 2016) Nlktm2c(KOMP)Wtsi Nlktm2a(KOMP)Wtsi PMC5072578

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nlktm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Nlktm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nlktm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nlktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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