Gene Summary

Name:
Snf2-related CREBBP activator protein
Synonyms:
D030022P06Rik,  B930091H02Rik,  F630004O05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Srcapem1(IMPC)Wtsi HET Early adult 3.46×10-05
abnormal hair growth Srcapem1(IMPC)Wtsi HET Early adult 8.12×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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)