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Gene: Srcap MGI:2444036

Gene Summary

Name:

Snf2-related CREBBP activator protein

Synonyms:

D030022P06Rik, B930091H02Rik, F630004O05Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
thrombocytopenia		Srcap^{em1(IMPC)Wtsi}	HET		Early adult	3.46×10^-05
abnormal hair growth		Srcap^{em1(IMPC)Wtsi}	HET		Early adult	8.12×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Srcap^{em1(IMPC)Wtsi}
head, HET, Female, WTSI

Srcap^{em1(IMPC)Wtsi}
eye, abnormal eye morphology, eye opacity, corneal opacity, HET, Female, WTSI

Human diseases caused by Srcap 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 Srcap (4 diseases)
Human diseases predicted to be associated with Srcap (445 diseases)

The table below shows human diseases associated to Srcap by orthology or direct annotation.

Disease	Matching phenotypes	Source
Floating-Harbor Syndrome	Low posterior hairline, Long eyelashes, Hirsutism	OMIM:136140
Non-Specific Syndromic Intellectual Disability	Highly arched eyebrow, Frontal upsweep of hair	ORPHA:528084
Floating-Harbor Syndrome		ORPHA:2044
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities		OMIM:619595

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

Disease	Matching phenotypes	Source
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Hypotrichosis 1	Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo...	OMIM:605389
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp	OMIM:610753
Hypotrichosis 4	Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair	OMIM:146550
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hypotrichosis Simplex	Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ...	ORPHA:55654
Hypotrichosis 14	Sparse hair, Sparse body hair	OMIM:618275
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Sea-Blue Histiocyte Disease	Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Hypotrichosis 13	Sparse and thin eyebrow, Sparse hair, Woolly hair	OMIM:615896
Hypotrichosis 5	Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair	OMIM:612841
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits	ORPHA:169095
Amegakaryocytic Thrombocytopenia, Congenital	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Hypotrichosis 11	Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil...	OMIM:615059
Alopecia Universalis Congenita	Alopecia universalis, Alopecia	OMIM:203655
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Thrombocytopenia 7	Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla...	OMIM:619130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia	OMIM:124900
Alopecia Universalis	Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes	ORPHA:701
Hypotrichosis 10	Sparse eyelashes, Sparse eyebrow, Sparse body hair	OMIM:614238
Alopecia Areata 1	Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Pancytopenia And Occlusive Vascular Disease	Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	OMIM:167850
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Hypertrichosis Lanuginosa Congenita	Double eyebrow, Congenital, generalized hypertrichosis	OMIM:145700
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Mental Retardation Syndrome 1	Alopecia universalis	OMIM:203650
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Hypotrichosis 7	Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair	OMIM:604379
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Alopecia, Sparse hair, Dystrophic toenail	OMIM:614928
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Bleeding Disorder, Platelet-Type, 16	Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired...	OMIM:187800
Graham Little-Piccardi-Lassueur Syndrome	Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair	ORPHA:505
Woolly Hair, Autosomal Recessive 3	Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair	OMIM:616760
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Trichodysplasia-Xeroderma Syndrome	Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S...	ORPHA:3361
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair	OMIM:614931
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri...	OMIM:117850
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia	ORPHA:1410
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Bleeding Disorder, Platelet-Type, 24	Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach...	OMIM:619271
Platelet Signal Processing Defect	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele...	OMIM:173590
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia	OMIM:133180
Trichodysplasia-Xeroderma	Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ...	OMIM:190360
Ectodermal Dysplasia 4, Hair/Nail Type	Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na...	OMIM:602032
Woolly Hair, Autosomal Dominant	Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair	OMIM:194300
Sebastian syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:605249
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:615285
Macrothrombocytopenia and progressive sensorineural deafness	Thrombocytopenia, Macrothrombocytopenia, Giant platelets	OMIM:600208
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Alopecia, Impaired platelet aggregation	OMIM:617443
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia...	OMIM:614929
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia	OMIM:314050
Angioma Serpiginosum, X-Linked	Fine hair, Nail dystrophy, Sparse hair	OMIM:300652
Monilethrix	Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair	OMIM:158000
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Hypotrichosis 8	Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,...	OMIM:278150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr...	OMIM:619041
Hypotrichosis 12	Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars...	OMIM:615885
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair	OMIM:234030
Palmoplantar Keratoderma And Woolly Hair	Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc...	OMIM:616099
Fanconi Anemia, Complementation Group T	Pancytopenia, Thrombocytopenia, Anemia	OMIM:616435
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Gray Platelet Syndrome	Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly	ORPHA:721
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Woolly Hair	Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g...	ORPHA:170
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia	OMIM:616576
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia, Nail dystrophy, Nail dysplasia	OMIM:613987
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr...	ORPHA:98826
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Polycythemia Vera	Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Cernunnos-Xlf Deficiency	B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia	ORPHA:169079
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair	OMIM:211390
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:187950
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:155100
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair	OMIM:164680
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Anemia	OMIM:616176
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto...	OMIM:159550
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia	ORPHA:859
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:603552
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon...	OMIM:601399
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia	OMIM:616738
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Tufted Angioma	Anemia, Thrombocytopenia, Hypertrichosis	ORPHA:1063
+173470 integrin, beta-3	Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag...	OMIM:173470
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia	OMIM:614171
Omenn Syndrome	B lymphocytopenia, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe B lymphocytop...	OMIM:603554
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production	OMIM:300367
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly	OMIM:610539
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia	OMIM:598500
Wt Limb-Blood Syndrome	Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia	OMIM:194350
Fechtner syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:153640
Specific Granule Deficiency 2	Hirsutism, Neutropenia, Absent neutrophil specific granules, Anemia, Nail dysplasia, Fragile nail...	OMIM:617475
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation	OMIM:231200
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Nail dystrophy, Alopecia, Anemia, Aplastic anemia, Lymphopenia, Thrombocytopenia, Sp...	OMIM:127550
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:613101
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Thrombocytopenia, Sideroblastic anemia	OMIM:617021
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Griscelli Syndrome	Silver-gray hair, Leukopenia, White hair, Abnormal eyebrow morphology, Splenomegaly, Thrombocytop...	ORPHA:381
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Autoinflammatory Syndrome, Familial, Behcet-Like	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Nail dystrophy, Nail dysplasia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Prem...	OMIM:613989
Immunodeficiency 10	Thrombocytopenia, Nail dysplasia, Autoimmune hemolytic anemia	OMIM:612783
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia	OMIM:611490
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Alopecia, Anemia, Autoimmune thrombocytopenia, Thr...	OMIM:304790
Isovaleric Acidemia	Pancytopenia, Thrombocytopenia, Leukopenia	OMIM:243500
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:54057
Dyskeratosis Congenita, Autosomal Dominant 3	Fine hair, Leukopenia, Alopecia, Nail dysplasia, Pancytopenia, Thrombocytopenia, Aplastic anemia,...	OMIM:613990
Aicardi-Goutieres Syndrome 4	Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph...	OMIM:308240
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:231000
Folate Malabsorption, Hereditary	Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis	OMIM:617718
Proteasome-Associated Autoinflammatory Syndrome 2	Thrombocytopenia	OMIM:618048
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia	OMIM:254900
Hoyeraal-Hreidarsson Syndrome	Thrombocytopenia, Nail dystrophy, Anemia, Generalized hypopigmentation of hair, Abnormal leukocyt...	ORPHA:3322
Beta-Thalassemia	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia	ORPHA:848
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi...	OMIM:613011
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Hermansky-Pudlak Syndrome 5	Thrombocytopenia, Albinism	OMIM:614074
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Thrombocytopenia, Leukopenia	OMIM:619151
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu...	ORPHA:824
Babesiosis	Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly	ORPHA:108
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp...	ORPHA:158057
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse eyelashes, Small nail, Thrombocytopenia, Nail dystrophy, Pterygium of nails, Nail dysplasi...	OMIM:224230
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly	OMIM:150550
Myh9-Related Disease	Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc...	ORPHA:182050
Leishmaniasis	Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia	ORPHA:507
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:101028
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Systemic Lupus Erythematosus	Thrombocytopenia, Hemolytic anemia, Leukopenia	OMIM:152700
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Isolated Agammaglobulinemia	Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils	ORPHA:229717
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia	ORPHA:27
Autoinflammation With Infantile Enterocolitis	Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia	OMIM:616050
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Alopecia	ORPHA:79242
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Splenomegaly	OMIM:615846
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Sea-Blue Histiocytosis	Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	ORPHA:158029
Schimke Immunoosseous Dysplasia	Fine hair, Abnormal T cell morphology, Neutropenia, Coarse hair, Anemia, Lymphopenia, Thrombocyto...	OMIM:242900
Pelger-Huet Anomaly	Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit...	OMIM:169400
Chediak-Higashi Syndrome	Neutropenia, Silver-gray hair, Leukopenia, Abnormal dense granules, Giant neutrophil granules, An...	OMIM:214500
Preeclampsia	Thrombocytopenia	ORPHA:275555
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia	OMIM:249270
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep...	ORPHA:98850
Osteopetrosis, Autosomal Recessive 2	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia	OMIM:259710
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen...	ORPHA:100026
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Alopecia, Neutropenia	ORPHA:47
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm...	ORPHA:3226
Mucopolysaccharidosis-Plus Syndrome	Hirsutism, Neutropenia, Low anterior hairline, Leukopenia, Thrombocytopenia, Coarse hair, Long ey...	OMIM:617303
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Prolidase Deficiency	Thrombocytopenia, Anemia, Splenomegaly, Low posterior hairline, Facial hirsutism	OMIM:170100
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia	ORPHA:398124
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Cog4-Cdg	Thrombocytopenia, Hepatosplenomegaly, Thick hair	ORPHA:263501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Alopecia	OMIM:253270
Lig4 Syndrome	Pancytopenia, Thrombocytopenia	OMIM:606593
Hermansky-Pudlak Syndrome 2	Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Albinism, Splenome...	OMIM:608233
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Small nail, Neutropenia	OMIM:614520
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Transaldolase Deficiency	Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Synophrys	OMIM:606003
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Anemia	OMIM:611209
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Stormorken Syndrome	Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia	OMIM:185070
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly	ORPHA:85212
Adams-Oliver Syndrome	Leukopenia, Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Th...	ORPHA:974
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Bleeding Disorder, Platelet-Type, 17	Absence of alpha granules, Thrombocytopenia	OMIM:187900
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Immunodeficiency 91 And Hyperinflammation	Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:619644
Smith-Kingsmore Syndrome	Thrombocytopenia, Curly hair	OMIM:616638
Kasabach-Merritt Syndrome	Hypertrichosis, Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytos...	ORPHA:2330
Porphyria, Congenital Erythropoietic	Hypertrichosis, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Thrombocytopenia, Hemo...	OMIM:263700
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Refractory Anemia With Excess Blasts	Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ...	ORPHA:86839
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal...	ORPHA:331206
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia, Alopecia totalis	OMIM:618775
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis	ORPHA:83601
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Tularemia	Leukocytosis, Anemia, Thrombocytopenia	ORPHA:3392
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo...	ORPHA:98849
Hereditary Folate Malabsorption	Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia	ORPHA:90045
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl...	OMIM:612541
Macrophage Activation Syndrome	Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce...	ORPHA:158061
Relapsing Fever	Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia	ORPHA:91547
Osteopetrosis, Autosomal Recessive 5	Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr...	OMIM:259720
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Gaucher Disease, Type I	Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia	OMIM:230800
Congenital Enterovirus Infection	Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia	ORPHA:292
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Noonan Syndrome 4	High anterior hairline, Thrombocytopenia, Curly hair, Sparse eyebrow	OMIM:610733
Pediatric Systemic Lupus Erythematosus	Leukopenia, Microangiopathic hemolytic anemia, Alopecia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Thrombocytopenia, Anemia, Leukopenia	OMIM:613845
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Thrombocytopenia, Leukopenia	OMIM:251000
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia	ORPHA:520
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp...	OMIM:614700
Felty Syndrome	Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia	ORPHA:47612
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Wolfram Syndrome 1	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia	OMIM:222300
Hepatoportal Sclerosis	Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia	ORPHA:64743
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Boutonneuse Fever	Thrombocytopenia, Leukopenia	ORPHA:83313
Dengue Fever	Thrombocytopenia, Leukopenia	ORPHA:99828
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia	OMIM:274150
Diffuse Alveolar Hemorrhage	Leukocytosis, Anemia, Thrombocytopenia	ORPHA:90060
Mogs-Cdg	Hirsutism, Alopecia, Long eyelashes, Hepatosplenomegaly, Thrombocytopenia, Fair hair	ORPHA:79330
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277380
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:614576
Lysosomal Acid Lipase Deficiency	Leukopenia, Bone-marrow foam cells, Anemia, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Thro...	OMIM:278000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Thrombocytopenia, Small nail, Hirsutism, Leukopenia	OMIM:301056
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly	OMIM:259700
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Cyclic Neutropenia	Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia	ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni...	ORPHA:79124
Wilson Disease	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:905
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Pseudo-Torch Syndrome 3	Leukocytosis, Anemia, Congenital thrombocytopenia	OMIM:618886
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Chédiak-Higashi Syndrome	Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni...	ORPHA:167
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Highly arched eyebrow, Abnormal hair pattern, Thrombocytopenia	ORPHA:261250
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Broad eyebrow, Sacral hypertrichosis, Thrombocytopenia	ORPHA:457351
Dyskeratosis Congenita	Thrombocytopenia, White hair, Nail dystrophy, Alopecia, Anemia, Abnormal eyebrow morphology, Sple...	ORPHA:1775
Combined Immunodeficiency Due To Crac Channel Dysfunction	Thrombocytopenia, Hemolytic anemia, Splenomegaly	ORPHA:169090
Fanconi Anemia, Complementation Group E	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:600901
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Gaucher Disease Type 1	Leukopenia, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia	ORPHA:77259
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia	ORPHA:508542
Familial Hemophagocytic Lymphohistiocytosis	Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	ORPHA:540
Blackfan-Diamond Anemia	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu...	ORPHA:124
Fanconi Anemia, Complementation Group A	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227650
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia, Ab...	ORPHA:1830
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto...	ORPHA:158048
Shwachman-Diamond Syndrome 1	Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy...	OMIM:260400
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia, Synophrys	OMIM:616737
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Hemophagocy...	OMIM:603553
Necrotizing Enterocolitis	Leukocytosis, Neutropenia, Thrombocytopenia	ORPHA:391673
Lysinuric Protein Intolerance	Fine hair, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Sparse hair, Hemophagocytosis	OMIM:222700
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly	OMIM:308230
Mevalonic Aciduria	Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly...	OMIM:610377
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Hemophagocytic Lymphohistiocytosis, Familial, 1	Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:267700
Dyskeratosis Congenita, X-Linked	Sparse eyelashes, Split nail, Leukopenia, Ridged nail, Nail dystrophy, Alopecia, Anemia, Pterygiu...	OMIM:305000
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Splenomegaly	OMIM:251880
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Shwachman-Diamond Syndrome	Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea...	ORPHA:811
21Q22.11Q22.12 Microdeletion Syndrome	Small nail, Hypoplastic nipples, Nail dystrophy, Anemia, Thrombocytopenia	ORPHA:261323
Ebola Hemorrhagic Fever	Thrombocytopenia, Lymphopenia, Leukopenia	ORPHA:319218
Mirage Syndrome	Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen	OMIM:617053
Proteasome-Associated Autoinflammatory Syndrome 3	Thrombocytopenia, Anemia, Lymphopenia, Splenomegaly	OMIM:617591
Dubowitz Syndrome	Fine hair, Acute lymphoblastic leukemia, Thrombocytopenia, Low anterior hairline, Sparse lateral ...	ORPHA:235
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypertrichosis, Leukopenia, Long eyelashes, Anemia, Hepatosplenomegaly, Thick hair, Thrombocytopenia	ORPHA:505248
Good Syndrome	Thrombocytopenia, Anemia, Abnormal leukocyte morphology	ORPHA:169105
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Facial hypertrichosis, Scarring alopecia of scalp, Splenomegal...	ORPHA:79277
Fanconi Anemia, Complementation Group C	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227645
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Nail dysplasia, Thrombocytopenia, Sparse hair, Anemia	OMIM:612199
Avian Influenza	Thrombocytopenia, Lymphopenia, Leukopenia	ORPHA:454836
Nijmegen Breakage Syndrome	Abnormal hair morphology, Low anterior hairline, Acute leukemia, Thrombocytopenia, Hemolytic anem...	ORPHA:647
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:225750
Overlap Myositis	Thrombocytopenia, Leukopenia	ORPHA:206572
Fanconi Anemia, Complementation Group B	Thrombocytopenia, Aplastic anemia	OMIM:300514
Tangier Disease	Thrombocytopenia, Nail dystrophy, Hepatosplenomegaly, Anemia	ORPHA:31150
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas...	OMIM:600903
Sepsis In Premature Infants	Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia	ORPHA:90051
Gaucher Disease, Perinatal Lethal	Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly	OMIM:608013
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:464343
Wiskott-Aldrich Syndrome	Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem...	ORPHA:906
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Normocytic anemia, Neutropenia	OMIM:617941
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Anemia, Leukopenia	OMIM:603467
Kaposiform Lymphangiomatosis	Anemia, Abnormal spleen morphology, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	ORPHA:464329
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Cornelia De Lange Syndrome 1	Highly arched eyebrow, Hypoplastic nipples, Hirsutism, Thrombocytopenia, Curly eyelashes, Long ey...	OMIM:122470
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Long eyelashes, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat...	OMIM:301000
Insulin-Resistance Syndrome Type B	Thrombocytopenia, Alopecia, Hirsutism, Leukopenia	ORPHA:2298
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce...	ORPHA:274
Hellp Syndrome	Thrombocytopenia, Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular...	ORPHA:244242
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:90038
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Alg12-Cdg	B lymphocytopenia, Low posterior hairline, Small nail, Thrombocytopenia	ORPHA:79324
Farber Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Fanconi Anemia, Complementation Group D2	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Lujo Hemorrhagic Fever	Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319213
Bacterial Toxic-Shock Syndrome	Thrombocytopenia, Increased circulating myelocyte count, Increased circulating metamyelocyte count	ORPHA:36234
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Nijmegen Breakage Syndrome	B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia	OMIM:251260
Shigellosis	Leukocytosis, Splenic abscess, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:810
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Castleman Disease	Thrombocytopenia, Decreased mean corpuscular volume, Anemia	ORPHA:160
Diamond-Blackfan Anemia 1	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ...	OMIM:105650
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega...	ORPHA:3260
Gaucher Disease Type 3	Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly	ORPHA:77261
Immunodeficiency 47	Normocytic anemia, Leukopenia, Splenomegaly, Accessory spleen, Thrombocytopenia	OMIM:300972
Q Fever	Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly	ORPHA:781
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia, Synophrys	ORPHA:487796
Kikuchi-Fujimoto Disease	Neutropenia, Leukopenia, Alopecia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia	ORPHA:50918
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Aplasia/Hypoplasia of the nails, Anemia, Thrombocytopenia	ORPHA:163979
Thrombocytopenia-Absent Radius Syndrome	Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia	OMIM:274000
Stevens-Johnson Syndrome	Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:36426
Jacobsen Syndrome	Thrombocytopenia, Abnormal eyelash morphology	OMIM:147791
Deeah Syndrome	Low posterior hairline, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Elliptocytosis	ORPHA:2785
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Tick-Borne Encephalitis	Leukocytosis, Thrombocytopenia, Leukopenia	ORPHA:297
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Megaloblastic anemia, Neutropenia	ORPHA:79282
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Erythroid hyperplasia, Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hemol...	ORPHA:447
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertrichosis, Thrombocytopenia, Splenomegaly, Microcytic anemia, Sparse axillary hair, Prematur...	OMIM:256040
Caroli Syndrome	Leukocytosis, Hypersplenism, Thrombocytopenia, Leukopenia	ORPHA:480520
Hepatocellular Carcinoma	Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia	ORPHA:88673
Pearson Syndrome	Neutropenia, Anemia, Splenomegaly, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic s...	ORPHA:699
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased CD4:CD8 ratio, Thrombocytope...	OMIM:619573
Roberts Syndrome	Thrombocytopenia, Sparse hair	ORPHA:3103
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Brucellosis	Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia	ORPHA:1304
Jacobsen Syndrome	Thrombocytopenia, Aplasia/Hypoplasia of the eyebrow	ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Sparse scalp hair, Anemia, Thrombocytopenia	ORPHA:534
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Fanconi Anemia	Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia	ORPHA:84
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia	ORPHA:2072
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Marburg Hemorrhagic Fever	Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R...	ORPHA:99826
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Anemia, Thrombocytopenia	ORPHA:340
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hemolytic anemia, Thrombocytopenia	ORPHA:544482
Gaucher Disease	Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly	ORPHA:355
22Q11.2 Deletion Syndrome	Thrombocytopenia, Hypoplasia of the thymus, Abnormality of thrombocytes, Splenomegaly	ORPHA:567
Crimean-Congo Hemorrhagic Fever	Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia	ORPHA:99827
Lysinuric Protein Intolerance	Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	ORPHA:470
Sarcoidosis	Leukopenia, Increased T cell count, Alopecia, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic a...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw	Thrombocytopenia, Microcytic anemia, Anemia, Splenomegaly	OMIM:619525
Chronic Visceral Acid Sphingomyelinase Deficiency	Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Autoimmune thrombocytopenia, Thrombocy...	ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly	ORPHA:731
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia	ORPHA:51
Hardikar Syndrome	Thrombocytopenia, Hepatosplenomegaly, Hypersplenism, Splenomegaly	OMIM:301068
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Noonan Syndrome 1	Low posterior hairline, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Leptospirosis	Thrombocytopenia	ORPHA:509
Floating-Harbor Syndrome	Low posterior hairline, Long eyelashes, Hirsutism	OMIM:136140
Non-Specific Syndromic Intellectual Disability	Highly arched eyebrow, Frontal upsweep of hair	ORPHA:528084
Floating-Harbor Syndrome		ORPHA:2044
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities		OMIM:619595

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 Srcap

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 Srcap.

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

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)

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