Gene Summary

Name:
nemo like kinase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Distal sensory impairment, Sensory ataxia OMIM:616491
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Intrauterine growth retardation, Splen... OMIM:609981
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Growth delay, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Short stature, Thrombocytopenia, Reduced natural killer cell ... OMIM:616050
Immunodeficiency 19
Lymphopenia OMIM:615617
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, B lymphocytopenia, Perianal abscess, Reduced natural killer cell count OMIM:618108
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Spastic dip... OMIM:613179
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Hepatomegaly, Impaired lymphocyte transformation wit... OMIM:300400
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Growth delay, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Growth delay, Hemiplegia, Redu... OMIM:243700
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Pgm3-Cdg
Cortical myoclonus, Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells... ORPHA:443811
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... OMIM:617827
X-Linked Lymphoproliferative Disease
Pancytopenia, Absent natural killer cells, Histiocytosis, Increased T cell count, Hepatic necrosi... ORPHA:2442
Ataxia-Telangiectasia
T lymphocytopenia, Female hypogonadism, Leukemia, Choreoathetosis, Decreased proportion of CD4-po... OMIM:208900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Thrombocytopenia, Hepatomegaly, Growth del... OMIM:612541
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Impaired pain sensation ORPHA:2582
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Fanconi Anemia, Complementation Group T
Pancytopenia, Bone marrow hypocellularity, Anemia, Short stature, Thrombocytopenia OMIM:616435
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Leukopenia, Intrauterine growth retardation, Cryptorch... OMIM:617053
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Short stature, Asplenia ORPHA:3204
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation ORPHA:89844
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Au... ORPHA:331206
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Rhizomelia, Anemia, Short stature, Thrombocytopenia OMIM:618116
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Hepato... OMIM:608233
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Intrauterine growth retardation, Thrombocytosis, Interface hepatitis, Autoimmune he... OMIM:243150
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Ataxia-Telangiectasia
Polycystic ovaries, Ataxia, Short stature, Spasticity, Aplasia/Hypoplasia of the thymus, Diabetes... ORPHA:100
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Ataxia, Unsteady ... ORPHA:2585
Bone Marrow Failure Syndrome 1
Pancytopenia, Bone marrow hypocellularity, Aplastic anemia OMIM:614675
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Impaired vibration sensation in the lower limbs, Ata... OMIM:159550
Immunodeficiency 31C
Hypothyroidism, Autoimmune hemolytic anemia, Growth delay, Short stature, Diabetes mellitus, Dela... OMIM:614162
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Lymphadenitis, Leukopenia, Impaired neutroph... OMIM:618986
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Shor... OMIM:619151
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune hemolytic anemia, Autoimmune thrombocytope... OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Lymph node h... OMIM:300755
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Immunodeficiency 36
Splenomegaly, Growth delay, Short stature, Chronic lymphatic leukemia, Lymphopenia OMIM:616005
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volu... OMIM:618849
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Thrombocytopenia OMIM:617243
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Growth delay, Testicular atrophy, Cirrhosis, Thrombocy... OMIM:613987
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Ataxia, Jaundice, Hepatomegaly, Abnormalit... ORPHA:381
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Growth ... OMIM:614034
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Gracile Bone Dysplasia
Hypoplastic spleen, Short stature, Asplenia OMIM:602361
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Intention tremor, Decreased proportion of CD4-positive helper T cells, Ataxia, B lymphocytopenia,... ORPHA:221139
Rosaï-Dorfman Disease
Paresthesia, Anemia, Paraplegia, Lymphadenopathy ORPHA:158014
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Leukopenia, Bone marrow hypocellul... OMIM:615190
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Absce... OMIM:618935
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Ataxia, Hepatom... ORPHA:158048
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Bone marrow hypocellularity, Acute myeloid leukemia, Short statu... OMIM:605724
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia, Cirrhosis OMIM:614743
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hypothyroidism, Macronodular cirrhosis, Anemia, ... ORPHA:699
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Ataxia, Lymphadenopathy ORPHA:391
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, Prolonged neonatal... OMIM:224120
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea, Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Refractory anemia OMIM:231095
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Caspase 8 Deficiency
Short stature, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Focal dystonia, Generalized dystonia, P... ORPHA:52368
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation, Torticollis OMIM:617022
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Cervical lymphadenopathy, Thrombocytopenia, Tooth absces... ORPHA:2686
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Stormorken Syndrome
Howell-Jolly bodies, Anemia, Short stature, Asplenia, Thrombocytopenia OMIM:185070
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity OMIM:609054
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Intrauterine growth retardation, Adrenal hypoplasia ORPHA:563609
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Bone marrow hypocellularity, Anemia, Aplastic anemia, Myeloid leukemia, Cirrhosis, ... OMIM:614742
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Anemia of inadequate production OMIM:614900
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Intrauterine growth retardation, Hypothyroid... ORPHA:84064
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Intrahepatic biliary dysgenesis, J... OMIM:214110
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Anemia, Lymphadenopathy OMIM:607115
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulato... OMIM:606367
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Neutropenia, Anemia, Cirrhosis, Lymphopenia OMIM:604250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune hemolytic anemia, Autoimmune... OMIM:102700
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Hepatosplenomegaly, Bone marrow hypocellularity, Nodular regenerative hyperp... ORPHA:210136
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the thymus, Decreased proportion of CD4-positive helper T cells, Absent tonsils, D... OMIM:611926
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Cryptorch... OMIM:613990
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess, Abn... ORPHA:54251
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopath... ORPHA:79477
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Hepatitis, Lympho... ORPHA:169160
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Intrauterine growth retardation, Ataxia, Abnormal leukocyte morpholo... ORPHA:3322
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thromboc... ORPHA:911
Microphthalmia, Syndromic 9
Hypoplastic spleen, Intrauterine growth retardation, Cryptorchidism, Short stature, Multilobulate... OMIM:601186
Sneddon Syndrome
Impaired distal tactile sensation, Lymphopenia, Hemiplegia, Tremor OMIM:182410
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Anemia, Follicular hyperp... OMIM:619381
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Ataxia, Sensory ataxia, Jaundice, Impaired neutrophi... OMIM:613470
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Increased circulating ferritin concent... ORPHA:3240
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Hepatic steatosis, Opisthotonus, Bone marrow hypocellularity, Choreoathe... ORPHA:445038
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Short stature, Aplastic anemia, Thrombocyt... OMIM:613989
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Ataxia, Jaundice, Hepatitis, Lymphadenopathy, Pancreat... ORPHA:549
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Generalized lymphadenopath... ORPHA:829
Thymic Aplasia
T lymphocytopenia, Hypothyroidism, Coombs-positive hemolytic anemia, Decreased proportion of naiv... ORPHA:83471
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Rectal abscess, Hashimoto thyroiditis, Autoimmune hemolytic anem... ORPHA:436252
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Thym... ORPHA:227990
Immunodeficiency 49
Eosinophilia, Lymphopenia, Spastic tetraplegia OMIM:617237
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Thym... ORPHA:227982
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Thrombocytopenia, Ataxia, Anemia, Aplastic anemia, Cirrhosis, Lympho... OMIM:127550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Autoimmune throm... ORPHA:572
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Intrauterine growth retardation, Bone marrow hypocellularity, Aplastic anemia OMIM:616553
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia, Lymphadenopathy OMIM:617718
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Intrauterine growth retardation, Normochromic microcytic anemia... OMIM:610198
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Short stature, Lymphopenia, Motor stereotypy ORPHA:391307
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Chronic hepatit... OMIM:269200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis OMIM:615415
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Rhizomelic arm shortening, Thrombocytopenia, Neutropenia... ORPHA:508542
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean corpuscular volu... ORPHA:86839
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529799
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Schimke Immunoosseous Dysplasia
Intrauterine growth retardation, Waddling gait, Thrombocytopenia, Disproportionate short-trunk sh... OMIM:242900
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Growth d... OMIM:613027
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Cryptorchidism, Ataxia, Lymphopenia, Hypogonadism OMIM:617575
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Anemia, Follicular hyperplasia, Lymphop... OMIM:615934
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Leukopenia, Leukocytosis, Thromboc... OMIM:615688
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Intrauterine growth retardation, Abnormality of thyroid physiology, ... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Dysmetria, Intrauterine growth retardation, Apraxia, Cryptorchidism, Ataxia, Gait... OMIM:616541
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:614520
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Abnormal pyramidal sign, Bone marrow hypocellularity, Intrauterine growth retardation, Ataxia, An... OMIM:612199
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Hypothyroidism, Autoimmune thrombocytopenia, Neutropenia, Short stature, Spast... OMIM:607944
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Bone marrow hypocellularity OMIM:618674
Revesz Syndrome
Intrauterine growth retardation, Bone marrow hypocellularity, Ataxia, Aplastic anemia, Hypertonia OMIM:268130
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Growth delay, Abnormal... ORPHA:90362
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Neutropenia, Short stature, Bilateral cryptorchidism, Lymphopeni... OMIM:616395
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Icf Syndrome
Abnormality of neutrophils, Anemia, Short stature, Lymphopenia ORPHA:2268
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Pediatric Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemiplegia, Lymphadenopathy, Microangiopathic hemolytic anemia, Lym... ORPHA:93552
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Inability to walk, Splenomegaly, Hepatomegaly, Neutropen... OMIM:617303
Fanconi Anemia, Complementation Group F
Leukopenia, Intrauterine growth retardation, Bone marrow hypocellularity, Cryptorchidism, Anemia,... OMIM:603467
Chédiak-Higashi Syndrome
Pancytopenia, Spastic paraplegia, Abnormal leukocyte morphology, Anemia, Abnormality of neutrophi... ORPHA:167
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Decreased serum testosterone concentrati... ORPHA:2959
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Immunodeficiency 23
Cortical myoclonus, Eosinophilia, Somatic sensory dysfunction, Ataxia, Abscess, Neutropenia, Hemo... OMIM:615816
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Congenital hypoplastic anemia, Impaired lymphocyte transformat... OMIM:250250
Fanconi Anemia, Complementation Group I
Hypothyroidism, Intrauterine growth retardation, Bone marrow hypocellularity, Neutropenia, Short ... OMIM:609053
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Whim Syndrome
Lymphadenitis, Parotitis, Neutropenia, Abnormality of neutrophil morphology, Limb ataxia, Poor fi... ORPHA:51636
Eec Syndrome
Hypoplasia of the thymus, Short stature, Decreased response to growth hormone stimulation test, A... ORPHA:1896
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Spastic paraplegia, Ataxia, Jaundice, Short stature, Spontaneous hemolytic cr... ORPHA:168577
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Hepatic cysts, Disproportionate short stature OMIM:617425
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Hypothyroidism, Parathyroid agenesis, Abnormality of the thymu... OMIM:188400
Osteopetrosis, Autosomal Dominant 2
Facial paralysis, Bone marrow hypocellularity OMIM:166600
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Diabetes mellitus, ... ORPHA:811
Treacher-Collins Syndrome
Cryptorchidism, Blepharospasm, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormality of the a... ORPHA:861
Fanconi Anemia, Complementation Group L
Anemia, Intrauterine growth retardation, Bone marrow hypocellularity OMIM:614083
Fanconi Anemia, Complementation Group C
Pancytopenia, Bone marrow hypocellularity, Leukemia, Intrauterine growth retardation, Cryptorchid... OMIM:227645
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Primary hypothyroidism, Hepatosplenomegaly, Autoimmune hemol... ORPHA:391487
Fanconi Anemia, Complementation Group Q
Growth delay, Short stature, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Abdominal situs inversus, Asplenia OMIM:619123
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Hyperthyroidism,... ORPHA:567
Mccune-Albright Syndrome
Pancytopenia, Cholestasis, Abnormality of the thyroid gland, Ovarian cyst, Increased circulating ... ORPHA:562
Bone Marrow Failure Syndrome 3
Pancytopenia, Exocrine pancreatic insufficiency, Bone marrow hypocellularity, Intrauterine growth... OMIM:617052
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Thrombocytopenia, Hepatitis, Lymphopenia ORPHA:319218
Cranioectodermal Dysplasia 4
Short stature, Bone marrow hypocellularity OMIM:614378
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Monosomy 22
Hypertonia, Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Fusariosis
Abnormality of the liver, Lung abscess, Peritonitis, Neutropenia, Granuloma, Abnormality of the s... ORPHA:228119
Nijmegen Breakage Syndrome
T lymphocytopenia, Intrauterine growth retardation, Autoimmune hemolytic anemia, Short stature, B... OMIM:251260
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Ataxia, Neutrope... ORPHA:50918
Feingold Syndrome 1
Accessory spleen, Vocal cord paralysis, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysmetria, Intention tremor, Ataxia, Head titubation, Lymphopenia OMIM:619708
Camurati-Engelmann Disease
Anemia, Delayed puberty, Waddling gait, Bone marrow hypocellularity OMIM:131300
Popov-Chang syndrome
Short stature, Lymphopenia OMIM:618428
Cowden Syndrome 1
Hypothyroidism, Intention tremor, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, Thyroiditis, ... OMIM:158350
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Cryptorchidism, Biliary tract abnormality, Asplenia OMIM:156810
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Cockayne Syndrome Type 1
Hearing impairment, Increased blood urea nitrogen, Macrotia, Absent brainstem auditory responses,... ORPHA:90321
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Opisthotonus, Motor stereotypy, Inability to walk, Decrease... ORPHA:508533
Mosaic Trisomy 9
Cryptorchidism, Intrauterine growth retardation, Abnormal liver lobulation, Asplenia ORPHA:99776
Infantile Krabbe Disease
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... ORPHA:206436
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia OMIM:224230
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Tetraparesis, Leukopenia, Bone marrow hypocellularity, Hepatomegaly, Secondary hype... ORPHA:2785
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Intrauterine growth retardation, Cholestasis, Autoimmune hemolytic anemia, Dec... OMIM:619573
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Hashimoto thyroiditis, Short stature, Hypoparathyroidism, Decreased r... OMIM:618223
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Cryptorch... OMIM:305000
Hennekam Syndrome
Lymphangioma, Mild postnatal growth retardation, Splenomegaly, Pulmonary lymphangiectasia, Lympha... ORPHA:2136
Fanconi Anemia, Complementation Group D2
Pancytopenia, Bone marrow hypocellularity, Leukemia, Cryptorchidism, Neutropenia, Anemia, Short s... OMIM:227646
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Intrauterine growth retardation ORPHA:3384
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Short stature, Asplenia OMIM:619657
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Noonan Syndrome 14
Cryptorchidism, Short stature, Lymphopenia OMIM:619745
Primary Sjögren Syndrome
Biliary cirrhosis, Somatic sensory dysfunction, Leukopenia, Normocytic anemia, Parotitis, Chronic... ORPHA:289390
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Inability to walk, Anemia, Thrombocy... ORPHA:505248
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Optic neuropathy, Decre... ORPHA:909
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Dyskeratosis Congenita
Bone marrow hypocellularity, Intrauterine growth retardation, Abnormal testis morphology, Splenom... ORPHA:1775
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia, Optic atrophy ORPHA:79330
Avian Influenza
Leukopenia, Hepatitis, Lymphopenia, Thrombocytopenia ORPHA:454836
Meckel Syndrome, Type 1
Intrauterine growth retardation, Accessory spleen, Bile duct proliferation, Cryptorchidism, Splen... OMIM:249000
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Lujo Hemorrhagic Fever
Leukocytosis, Resting tremor, Leukopenia, Lymphopenia, Fulminant hepatitis, Thrombocytopenia ORPHA:319213
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Cryptorchidism, Congenital hepatic fibrosis, Cystic liver dis... ORPHA:564
Tay-Sachs Disease
Dystonia, Increased serum beta-hexosaminidase, Laryngeal dystonia, Exaggerated startle response, ... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Cockayne Syndrome B
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:133540
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Orchitis, Pancreatitis, Thrombocytopenia, Jaundice, D... ORPHA:99826
Cockayne Syndrome A
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:216400
Pseudoaminopterin Syndrome
Cryptorchidism, Short stature, Asplenia ORPHA:221120
Leukocyte Adhesion Deficiency
Leukocytosis, Bone marrow hypocellularity, Impaired neutrophil chemotaxis, Intrauterine growth re... ORPHA:2968
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Optic atrophy, Exaggerated startle response OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Exaggerated startle response ORPHA:438216
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Greenberg Dysplasia
Hepatosplenomegaly, Bone marrow hypocellularity, Rhizomelia, Pancreatic islet-cell hyperplasia, H... OMIM:215140
Cushing Disease
Pituitary corticotropic cell adenoma, Leukocytosis, Decreased eosinophil count, Increased urinary... ORPHA:96253
Jacobsen Syndrome
Intrauterine growth retardation, Bone marrow hypocellularity, Cryptorchidism, Growth delay, Short... ORPHA:2308
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Abdominal situs inversus, Biliary atresia, Asplenia, Polysplenia OMIM:306955
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Intrauterine growth retardation, Abdominal situs inversus, Asplenia OMIM:270100
Gm1 Gangliosidosis Type 1
Low-set ears, Macrotia, Hearing impairment, Exaggerated startle response ORPHA:79255
Secondary Intestinal Lymphangiectasia
Cirrhosis, Secondary hyperaldosteronism, Lymphopenia ORPHA:90363
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Asplenia, Pulmonary lymphangiectasia OMIM:265380
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Low-set ears, Optic atrophy OMIM:617527
Proteus Syndrome
Diabetes insipidus, Lymphangioma, Testicular neoplasm, Splenomegaly, Ovarian neoplasm, Thymus hyp... ORPHA:744
Charge Syndrome
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism, Decreased... OMIM:214800
Mowat-Wilson Syndrome
Motor stereotypy, Cryptorchidism, Impaired pain sensation, Inability to walk, Ataxia, Growth dela... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Cryptorchidism, Impaired pain sensation, Hydrocele testis, Inability to walk, S... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Cryptorchidism, Impaired pain sensation, Hydrocele testis, Inability to walk, S... ORPHA:261552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response 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

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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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