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Gene: Bahd1 MGI:2139371

Gene Summary

Name:

bromo adjacent homology domain containing 1

Synonyms:

LOC228536

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased lymphocyte cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	7.64×10^-07
increased T cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	2.34×10^-07
increased CD4-negative NK T cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	1.63×10^-06
increased NK cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	4.53×10^-05
increased memory-marker CD4-negative NK T cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	6.66×10^-06
increased neutrophil cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	2.28×10^-05
decreased total retina thickness	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	1.18×10^-05
increased NK T cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	1.38×10^-05
abnormal retina morphology	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	5.60×10^-07
decreased effector memory CD8-positive, alpha-beta T cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	1.91×10^-05
decreased locomotor activity	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	8.40×10^-05
increased startle reflex	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	4.46×10^-06
decreased leukocyte cell number	Bahd1^{tm2b(KOMP)Wtsi}	HET	Early adult	3.11×10^-05

Download data as: TSV XLS

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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

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Immunophenotyping

Panel A FCS file(s)

10 Images

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Immunophenotyping

Panel B FCS file(s)

10 Images

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Human diseases caused by Bahd1 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.

Human diseases associated with Bahd1 (0 diseases)
Human diseases predicted to be associated with Bahd1 (297 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bahd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Aicardi-Goutieres Syndrome 2	Lymphocytosis, Dystonia	OMIM:610181
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Pigmentary retinopathy, Neutropenia, Intention tremor	OMIM:266130
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Dysdiadochokinesis, Loss of ambulation, R...	OMIM:256731
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 95	Lymphopenia	OMIM:619773
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Immunodeficiency 44	Lymphopenia	OMIM:616636
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Chorioretinal coloboma	ORPHA:1116
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Neutropenia, Optic atrophy, Choreoathetosis, Anemia, Dystonia, Lethargy, Thrombocytopenia	ORPHA:289916
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Hermansky-Pudlak Syndrome 9	Leukopenia, Hypopigmentation of the fundus, Ocular albinism, Thrombocytopenia	OMIM:614171
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Optic atrophy, Choreoathetosis, Leukopenia, Anemia, Lethargy, Thromboc...	ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Optic atrophy, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocyt...	ORPHA:79312
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Pancytopenia, Ataxia, Retinal telangiectasi...	OMIM:617341
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Dysmet...	ORPHA:217260
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Spinocerebellar Ataxia, Autosomal Recessive 23	Ataxia, Neutropenia	OMIM:616949
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis...	ORPHA:158048
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph...	ORPHA:3226
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia	OMIM:598500
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count	OMIM:609981
Sneddon Syndrome	Tremor, Lymphopenia	OMIM:182410
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Ataxia-Telangiectasia	Tremor, Lymphopenia, Ataxia, Gait disturbance	ORPHA:100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl...	ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Isovaleric Acidemia	Leukopenia, Pancytopenia, Lethargy, Thrombocytopenia	OMIM:243500
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec...	ORPHA:760
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen...	OMIM:619705
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4...	ORPHA:443811
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:620133
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ...	OMIM:613179
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro...	OMIM:214500
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Chorioretinitis, Optic neuritis, B lymphocytopenia, Neutropenia	OMIM:301081
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Ocular albinism, Hepatospl...	OMIM:608233
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Acute lymphoblastic leukemia, T lymphocytopenia, Choreoathetos...	OMIM:208900
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Lethargy	ORPHA:36238
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count	ORPHA:98813
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Lethargy, Thrombocytopenia	ORPHA:319218
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Optic atrophy, Dysmetria, Dystonia, Lymphopenia, Intention tremor	OMIM:619708
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased...	ORPHA:221139
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:616100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia, Opisthotonus,...	ORPHA:508533
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking	ORPHA:320406
Reni Syndrome	Lymphopenia, Ataxia	OMIM:617575
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Adult-Onset Still Disease	Splenomegaly, Leukocytosis, Neutrophilia	ORPHA:829
Immunodeficiency 23	Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro...	OMIM:127550
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Difficulty walking, Neutropenia	ORPHA:1667
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy	OMIM:260920
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Ataxia, Tremor,...	ORPHA:167
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thromb...	OMIM:242900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Primary Intestinal Lymphangiectasia	Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4+ effector me...	ORPHA:90362
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Ataxia, Hepatosplenomegaly	OMIM:268800
Tay-Sachs Disease	Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dysmetria, Hepatosplenome...	ORPHA:845
Fusariosis	Brain abscess, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, Granuloma, N...	ORPHA:228119
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia	OMIM:605309
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Lymphopenia, Thrombocytosis, Anemia	OMIM:615934
Cowden Syndrome 1	Lymphopenia, Angioid streaks of the fundus, Intention tremor	OMIM:158350
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Lymphopenia, Anemia	OMIM:616541
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Vici Syndrome	Macular atrophy, Ocular albinism, Leukopenia, T lymphocytopenia, Macular hypoplasia, Neutropenia,...	OMIM:242840
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia	OMIM:617591
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Legionnaires Disease	Splenomegaly, Lymphopenia, Ataxia	ORPHA:549
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Splenomegaly, Leukocytosis, Optic atrophy, Hepatosplenomegaly, Leukopenia, ...	OMIM:615688
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Generalized Pustular Psoriasis	Leukocytosis, Lymphopenia	ORPHA:247353
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Anemia	ORPHA:935
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutropenia	ORPHA:51636
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess	OMIM:612852
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Common Variable Immunodeficiency	Splenomegaly, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia	ORPHA:1572
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Lymphopenia, Anemia, Neutropenia	OMIM:618460
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Lujo Hemorrhagic Fever	Resting tremor, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia	OMIM:253800
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Anemia	ORPHA:99843
Familial Mediterranean Fever	Splenomegaly, Leukocytosis, Neutrophilia	OMIM:249100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Kikuchi-Fujimoto Disease	Ataxia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Autoimmune hemolytic an...	OMIM:614162
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce...	OMIM:619381
Isotretinoin-Like Syndrome	Lymphopenia	ORPHA:2306
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Reynolds Syndrome	Splenomegaly, Lymphopenia	OMIM:613471
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Optic neuritis, Decreased proportion of CD4-p...	ORPHA:289390
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia, Optic nerve compression	ORPHA:96253
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Retinal hemorrhage, Leukopenia, Thrombocy...	ORPHA:99827
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, A...	ORPHA:438213
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	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 Bahd1

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 Bahd1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice.	PloS one (May 2020)	Bahd1^{tm1B(KOMP)Wts1}	PMC7224496

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
Bahd1^{tm3e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Bahd1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Bahd1^{tm44058(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bahd1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Bahd1^{tm2b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Bahd1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bahd1 MGI:2139371

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Bahd1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data