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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
abnormal auditory brainstem response Nlktm2b(KOMP)Wtsi HET   Early adult 6.20×10-06
increased startle reflex Nlktm2b(KOMP)Wtsi HET Early adult 2.53×10-05
increased circulating alkaline phosphatase level Nlktm2b(KOMP)Wtsi HET   Early adult 4.88×10-05

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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 Lateral Orientation

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B 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, Impaired proprioception, Ataxia OMIM:176250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Immunodeficiency 54
Reduced natural killer cell count, Postnatal growth retardation, Adrenal insufficiency, Intrauter... OMIM:609981
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay OMIM:619164
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Lymphadenopathy, ... ORPHA:444463
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Short st... OMIM:616050
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Tremor, Splenomega... OMIM:613179
Pyknoachondrogenesis
Stillbirth OMIM:265880
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar... OMIM:617827
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth... OMIM:620133
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Ataxia-Telangiectasia
Dysdiadochokinesis, Inability to walk, Lymphopenia, Myoclonus, Intention tremor, Tremor, Decrease... OMIM:208900
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay ORPHA:169079
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 9
Difficulty walking, Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Mirage Syndrome
Lymphopenia, Paraplegia, Leukopenia, Decreased testicular size, Cryptorchidism, Adrenal insuffici... OMIM:617053
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Spasticity, He... OMIM:617341
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Impaired pain sensation ORPHA:2582
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Short stature OMIM:618116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Hemiplegia, Decreased proportion of CD4-pos... OMIM:243700
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Postnatal growth retardation, Splenomegaly, Decreased proportion of ... OMIM:620632
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Hepatomegaly, Short stature OMIM:620210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac... OMIM:243150
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... ORPHA:79124
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Ataxia-Telangiectasia
Spasticity, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Tremor, Pol... ORPHA:100
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Immunodeficiency 36 With Lymphoproliferation
Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran... OMIM:616005
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Shor... OMIM:616435
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Immunodeficiency 95
Lymphopenia OMIM:619773
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis, T lymphocyt... OMIM:300755
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop... OMIM:619151
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia OMIM:614675
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal B cell count,... OMIM:620430
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Gracile Bone Dysplasia
Short stature, Asplenia, Hypoplastic spleen OMIM:602361
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar... OMIM:620501
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Griscelli Syndrome
Bone marrow hypocellularity, Spasticity, Hepatitis, Leukopenia, Splenomegaly, Hepatomegaly, Lymph... ORPHA:381
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Intrauterine growth retardation, Postnatal growth retard... OMIM:615190
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, ... OMIM:620603
Heme Oxygenase 1 Deficiency
Growth delay, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thromb... OMIM:614034
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... OMIM:612541
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Short stature OMIM:617243
Systemic Lupus Erythematosus 17
Lymphopenia, Chorea, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Caspase 8 Deficiency
Short stature, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Intrauterine growth retardatio... OMIM:605724
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Ataxia, Hepatomegaly ORPHA:391
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia OMIM:614743
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hypoparathyro... ORPHA:699
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation OMIM:600546
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Chorea, Hemolytic anemia, Thrombocytopenia OMIM:616744
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... OMIM:614742
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Lymphopenia, Ab... ORPHA:760
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Immunodeficiency 44
Lymphopenia OMIM:616636
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Intrauterine growth retardation, Postnatal growth retardation OMIM:609054
Isolated Anencephaly
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Intrauterine growth retardation, Abnormality of the liver, Splenom... ORPHA:84064
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly... OMIM:619381
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Hoyeraal-Hreidarsson Syndrome
Ataxia, Bone marrow hypocellularity, Intrauterine growth retardation, Abnormal leukocyte morpholo... ORPHA:3322
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice... OMIM:214110
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal... OMIM:606367
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hypertonia, Hepatomeg... ORPHA:79477
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly... OMIM:615966
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia OMIM:604250
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Intrauterine growth retardation, Cryptorchidism OMIM:616910
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy, Growt... OMIM:613987
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Sneddon Syndrome
Lymphopenia, Hemiplegia, Impaired distal tactile sensation, Tremor OMIM:182410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Microphthalmia, Syndromic 9
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Cryptorchidism, Sho... OMIM:601186
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... ORPHA:169160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation, Torticollis OMIM:617022
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Spasticity, Infection associated neutropenia, Myoclonus, Hepatic ste... ORPHA:445038
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... ORPHA:83471
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Intrauterine growth retardation OMIM:616553
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Autoimm... ORPHA:436252
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Type I ... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Graves ... ORPHA:227982
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Gait ataxia, Decreased proportion of CD4-positive helper T ... ORPHA:572
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Growth delay, Pancytopenia, Leukopenia, Intrauterin... OMIM:613990
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypot... OMIM:304790
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Reticulocytopeni... ORPHA:508542
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Revesz Syndrome
Bone marrow hypocellularity, Broad-based gait, Aplastic anemia, Intrauterine growth retardation, ... OMIM:268130
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Macrocephaly/Autism Syndrome
Speech apraxia, Lymphopenia, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:617591
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Hepatomegaly, Macrovesicular hepatic steatosis, T lymph... OMIM:616433
Diamond-Blackfan Anemia 11
Short stature, Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production OMIM:614900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo... OMIM:613989
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Hemiplegia, ... ORPHA:1830
Immunodeficiency 31C
Growth delay, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Hypothyroidis... OMIM:614162
Glycogen Storage Disease Ixc
Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato... OMIM:613027
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity, Pancytopenia OMIM:613988
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... OMIM:615934
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Spondyloenchondrodysplasia With Immune Dysregulation
Spasticity, Lymphopenia, T lymphocytopenia, Progressive spastic quadriplegia, Hypothyroidism, Lym... OMIM:607944
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Hemiplegia, Hepatosplenomegaly, Lymphopeni... OMIM:615688
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... ORPHA:829
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Disproportionate short-limb short stature, Lymphopenia, Intrauterine growth ret... OMIM:616541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity OMIM:618674
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, Abnormal lymphatic vessel morpholo... ORPHA:90362
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ... ORPHA:457077
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Short stature, Lymphopenia ORPHA:391307
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia... ORPHA:1572
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Short stature ORPHA:2268
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Growth delay OMIM:617244
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Growth delay, Adrenal hypoplasia OMIM:613177
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Intrauterine growth retardation, Neutropenia, Hypertonia, ... OMIM:616395
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr... OMIM:301110
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insuffi... OMIM:240300
Reni Syndrome
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Ataxia OMIM:617575
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Immunodeficiency 23
Somatic sensory dysfunction, Lymphopenia, Myoclonus, Abscess, Eosinophilia, Neutropenia, Ataxia, ... OMIM:615816
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Intrauterine growth retardation, Ataxia OMIM:616353
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Spasticity, Hemiplegia, Postnatal growth retardation, Intrauterine g... OMIM:612199
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Leukopenia, Lymphadenopathy, Thromboc... ORPHA:93552
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, I... OMIM:603467
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... ORPHA:288
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... OMIM:242900
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Broad-based gait, Insulin-resistant diabetes mellitus, Microcytic anem... ORPHA:2959
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Inability to walk, Leukopenia, Splenomegaly, Hepatomegaly, Neutropen... OMIM:617303
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ... OMIM:609053
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Hereditary Cryohydrocytosis With Reduced Stomatin
Spastic paraplegia, Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth retardation, H... ORPHA:168577
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Hemiparesis, Hepatic steatosi... OMIM:188400
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Jaundice, ... ORPHA:167
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Short stature, A... ORPHA:1896
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Neutropenia, ... ORPHA:51636
Treacher-Collins Syndrome
Blepharospasm, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyro... ORPHA:861
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Facial paralysis OMIM:166600
22Q11.2 Deletion Syndrome
Cholelithiasis, Intrauterine growth retardation, Splenomegaly, Cryptorchidism, Hypoplasia of the ... ORPHA:567
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia... ORPHA:391487
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Anemi... OMIM:227645
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries ORPHA:2969
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Disproportionate short stature, Hepatic cysts OMIM:617425
Fanconi Anemia, Complementation Group Q
Short stature, Bone marrow hypocellularity, Growth delay, Biliary atresia OMIM:615272
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis ORPHA:319218
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus, Hypertonia ORPHA:96123
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... ORPHA:562
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Macrocytic anemia, ... OMIM:250250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... OMIM:620005
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... ORPHA:228119
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia OMIM:224230
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Cowden Syndrome 1
Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro... OMIM:158350
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Camurati-Engelmann Disease
Anemia, Bone marrow hypocellularity, Delayed puberty, Waddling gait OMIM:131300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Dysmetria, Head titubation, Ataxia, Intention tremor OMIM:619708
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cranioectodermal Dysplasia 4
Short stature, Bone marrow hypocellularity OMIM:614378
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Decreased pineal volume OMIM:301108
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Vici Syndrome
Lymphopenia, Leukopenia, Postnatal growth retardation, Decreased proportion of CD4-positive helpe... OMIM:242840
Immunodeficiency 87 And Autoimmunity
Growth delay, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Intrauterine growth... OMIM:619573
Wiedemann-Rautenstrauch Syndrome
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Increased serum testos... OMIM:264090
Avian Influenza
Lymphopenia, Leukopenia, Hepatitis, Thrombocytopenia ORPHA:454836
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Disproportionate short stature, Inability to walk, Decreased proportion of CD8-positive T cells, ... ORPHA:508533
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
EEG with generalized slow activity, Optic nerve hypoplasia, Macrotia, Exaggerated startle response OMIM:617864
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hennekam Syndrome
Lymphopenia, Mild postnatal growth retardation, Splenomegaly, Lymphadenopathy, Pulmonary lymphang... ORPHA:2136
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Short stature, Asplenia OMIM:619657
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Resting tremor, Abnormal motor evoked potenti... ORPHA:909
Truncus Arteriosus
Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortical abnormality ORPHA:3384
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Intrauterine gr... OMIM:305000
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Tetraparesis, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomega... ORPHA:2785
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... OMIM:227646
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Nijmegen Breakage Syndrome
Intrauterine growth retardation, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia... OMIM:251260
Dyskeratosis Congenita
Bone marrow hypocellularity, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Cirrhos... ORPHA:1775
Primary Sjögren Syndrome
Normocytic anemia, Thyroiditis, Biliary cirrhosis, Somatic sensory dysfunction, Parotitis, Chroni... ORPHA:289390
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Inability to walk, Hepatosplenomegaly, Leukopenia, Thrombocytopenia,... ORPHA:505248
Generalized Pustular Psoriasis
Lymphopenia, Leukocytosis ORPHA:247353
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Vocal cord paralysis, Asplenia OMIM:164280
Tay-Sachs Disease
Optic atrophy, Increased serum beta-hexosaminidase, Hearing impairment, Laryngeal dystonia, Tremo... ORPHA:845
Khan-Khan-Katsanis Syndrome
Lymphopenia, Intrauterine growth retardation, Neutropenia, Hypertonia, Anemia, Short stature OMIM:618460
Asparagine Synthetase Deficiency
Hypoasparaginemia, EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated st... OMIM:615574
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Developmental And Epileptic Encephalopathy 49
Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response OMIM:617281
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:216400
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hyperglycinemia, Hypsarrhythmia, Exaggerated startle response, Dyston... OMIM:620423
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Meckel Syndrome
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... ORPHA:564
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Fanconi Anemia, Complementation Group L
Anemia, Bone marrow hypocellularity, Intrauterine growth retardation, Growth delay OMIM:614083
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Intrauterine growth retardation, Prolonged neonatal jau... OMIM:620186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:617301
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Intrauterine growth retardation, Sple... OMIM:249000
Pseudoaminopterin Syndrome
Short stature, Asplenia, Cryptorchidism ORPHA:221120
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Mend Syndrome
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... ORPHA:401973
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia OMIM:306955
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt... ORPHA:2968
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... ORPHA:96253
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... ORPHA:744
Mowat-Wilson Syndrome
Spasticity, Broad-based gait, Impaired pain sensation, Inability to walk, Cryptorchidism, Ataxia,... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Broad-based gait, Impaired pain sensation, Inability to walk, Cryptorchidism, Short s... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Broad-based gait, Impaired pain sensation, Inability to walk, Cryptorchidism, Short s... ORPHA:261552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dystonia, Decreased circulating iron concentration, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia 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
Nlktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nlktm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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