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
abnormal hair growth Srcapem1(IMPC)Wtsi HET Early adult 8.12×10-05
thrombocytopenia Srcapem1(IMPC)Wtsi HET Early adult 3.46×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

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
Generalized hypertrichosis, Hirsutism, Long eyelashes, Low posterior hairline OMIM:136140
Non-Specific Syndromic Intellectual Disability
Frontal upsweep of hair, Highly arched eyebrow 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
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... OMIM:601705
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Sea-Blue Histiocyte Disease
Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:314050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis 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 hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails OMIM:164680
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Alopecia OMIM:616576
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Malaria
Anemia, Thrombocytopenia ORPHA:673
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Tufted Angioma
Anemia, Thrombocytopenia, Hypertrichosis ORPHA:1063
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Omenn Syndrome
Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymph... OMIM:603554
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Specific Granule Deficiency 2
Nail dysplasia, Hirsutism, Fragile nails, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophi... OMIM:617475
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature graying of hair, Lymphopenia, Sparse hair, Alopecia, Aplastic anemia, Ridged... OMIM:127550
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Griscelli Syndrome
Abnormal eyebrow morphology, Splenomegaly, Leukopenia, Silver-gray hair, Abnormality of neutrophi... ORPHA:381
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Sengers Syndrome
Thrombocytopenia OMIM:212350
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Alopecia, Leukopenia, Aplastic anemia, Fine hair, Pancytopenia, Premature graying... OMIM:613990
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Nail dystrophy, Pancytopenia OMIM:613987
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia OMIM:612783
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Generalized hypopigm... ORPHA:3322
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Neutropeni... OMIM:304790
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Dyskeratosis Congenita, Autosomal Recessive 1
Nail dysplasia, Sparse scalp hair, Pterygium of nails, Sparse eyelashes, Aplastic anemia, Nail dy... OMIM:224230
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Leukopenia, Aplastic anemia, Pancytopenia, Nail dystrophy, Neutropenia, White for... OMIM:613989
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Hermansky-Pudlak Syndrome 5
Albinism, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytop... OMIM:614074
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia OMIM:619151
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio OMIM:150550
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia ORPHA:507
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology ORPHA:229717
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia ORPHA:27
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Braddock-Carey Syndrome 1
Thrombocytopenia, Curly hair, Sparse hair OMIM:619980
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia ORPHA:79242
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly ORPHA:79312
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Hypopigmentation of hair, Im... OMIM:214500
Preeclampsia
Thrombocytopenia ORPHA:275555
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Cog4-Cdg
Thick hair, Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
X-Linked Agammaglobulinemia
Alopecia, Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low anterior hairline, Splenomegaly, Leukopenia, Coarse hair, Long eyelashes, Synophry... OMIM:617303
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia OMIM:253270
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Prolidase Deficiency
Facial hirsutism, Splenomegaly, Anemia, Thrombocytopenia, Low posterior hairline OMIM:170100
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Fair hair, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, ... OMIM:608233
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Small nail, Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Fetal Gaucher Disease
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia ORPHA:85212
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Transaldolase Deficiency
Splenomegaly, Hepatosplenomegaly, Synophrys, Pancytopenia, Anemia, Thrombocytopenia OMIM:606003
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Adams-Oliver Syndrome
Sparse hair, Alopecia, Leukopenia, Absent fingernail, Hypoplastic fingernail, Thrombocytopenia, A... ORPHA:974
Schimke Immunoosseous Dysplasia
Lymphopenia, Coarse hair, Thrombocytopenia, Pancytopenia, Fine hair, Neutropenia, Anemia, Abnorma... OMIM:242900
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Smith-Kingsmore Syndrome
Thrombocytopenia, Curly hair OMIM:616638
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Porphyria, Congenital Erythropoietic
Hypertrichosis, Absent eyebrow, Alopecia, Splenomegaly, Hemolytic anemia, Loss of eyelashes, Thro... OMIM:263700
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Thrombocytopenia, Normochromic anemia OMIM:618775
Kasabach-Merritt Syndrome
Hypertrichosis, Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anem... ORPHA:2330
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Propionic Acidemia
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:606054
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Noonan Syndrome 4
High anterior hairline, Thrombocytopenia, Curly hair, Sparse eyebrow OMIM:610733
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Gaucher Disease, Type I
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Thrombocytopenia, Leukopenia OMIM:613845
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251110
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Hepatoportal Sclerosis
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... OMIM:614700
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:274150
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-marrow foam cells, H... OMIM:278000
Dyskeratosis Congenita
Abnormal eyebrow morphology, Premature graying of hair, Sparse hair, Splenomegaly, Alopecia, Abno... ORPHA:1775
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hirsutism, Leukopenia, Thrombocytopenia, Small nail OMIM:301056
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251100
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia OMIM:277380
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Mogs-Cdg
Hirsutism, Fair hair, Alopecia, Hepatosplenomegaly, Long eyelashes, Thrombocytopenia ORPHA:79330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Cyclic Neutropenia
Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count ORPHA:2686
Osteopetrosis, Autosomal Recessive 1
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:259700
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Highly arched eyebrow, Abnormal hair pattern ORPHA:261250
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sacral hypertrichosis, Thrombocytopenia, Highly arched eyebrow, Broad eyebrow ORPHA:457351
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Gaucher Disease Type 1
Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:77259
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair, Thrombocytopenia OMIM:612394
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Low anterior hairline, Persistence of hemoglobin ... ORPHA:124
Lysinuric Protein Intolerance
Sparse hair, Hemophagocytosis, Splenomegaly, Leukopenia, Fine hair, Anemia, Thrombocytopenia OMIM:222700
Takenouchi-Kosaki Syndrome
Sparse eyebrow, Increased mean platelet volume, Synophrys, Thrombocytopenia, Highly arched eyebrow OMIM:616737
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... OMIM:603553
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Nail dysplasia, Anemia, Thrombocytopenia, Sparse hair OMIM:612199
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
21Q22.11Q22.12 Microdeletion Syndrome
Hypoplastic nipples, Nail dystrophy, Anemia, Thrombocytopenia, Small nail ORPHA:261323
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... OMIM:610377
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:267700
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... ORPHA:811
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Dyskeratosis Congenita, X-Linked
Pterygium of nails, Premature graying of hair, Split nail, Alopecia, Sparse eyelashes, Leukopenia... OMIM:305000
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly OMIM:617591
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Osteopetrosis, Autosomal Recessive 5
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... OMIM:259720
Dubowitz Syndrome
Sparse scalp hair, Hypoplastic toenails, Low anterior hairline, Thrombocytopenia, Abnormal finger... ORPHA:235
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope... OMIM:557000
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Fanconi Anemia, Complementation Group C
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227645
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thick hair, Hypertrichosis, Leukopenia, Hepatosplenomegaly, Long eyelashes, Anemia, Thrombocytopenia ORPHA:505248
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Scarring alopecia of scalp, Facial hypertrichosis, Hemoly... ORPHA:79277
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia ORPHA:464343
Nijmegen Breakage Syndrome
Abnormal hair morphology, Low anterior hairline, Abnormal hair quantity, Hemolytic anemia, Autoim... ORPHA:647
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... ORPHA:906
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Tangier Disease
Anemia, Thrombocytopenia, Nail dystrophy, Hepatosplenomegaly ORPHA:31150
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:608013
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Fanconi Anemia, Complementation Group F
Anemia, Thrombocytopenia, Leukopenia OMIM:603467
Cornelia De Lange Syndrome 1
Hirsutism, Curly eyelashes, Hypoplastic nipples, Long eyelashes, Synophrys, Thrombocytopenia, Hig... OMIM:122470
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Thrombocytopenia OMIM:619743
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Long eyelashes, Decreased hemoglobin concentration, Thrombocytopenia, Highly arched eyebrow OMIM:619005
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia ORPHA:464329
Insulin-Resistance Syndrome Type B
Hirsutism, Leukopenia, Thrombocytopenia, Alopecia ORPHA:2298
Alg12-Cdg
Thrombocytopenia, Low posterior hairline, B lymphocytopenia, Small nail ORPHA:79324
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Lymphopenia, Sparse hair, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia OMIM:620005
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Farber Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:333
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Fanconi Anemia, Complementation Group D2
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227646
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia ORPHA:36234
Lujo Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia, Leukocytosis ORPHA:319213
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Immunodeficiency 47
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Thrombocytopenia OMIM:300972
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Shigellosis
Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:810
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Sparse eyebrow, Increased mean platelet volume, Synophrys, Thrombocytopenia, Highly arched eyebrow ORPHA:487796
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Gaucher Disease Type 3
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:77261
Kikuchi-Fujimoto Disease
Lymphocytosis, Splenomegaly, Alopecia, Leukopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Q Fever
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly ORPHA:781
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Aplasia/Hypoplasia of the nails ORPHA:163979
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia, Low posterior hairline OMIM:619004
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:36426
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Jacobsen Syndrome
Abnormal eyelash morphology, Thrombocytopenia OMIM:147791
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Neutropenia ORPHA:79282
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia ORPHA:2785
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Tick-Borne Encephalitis
Leukopenia, Thrombocytopenia, Leukocytosis ORPHA:297
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... ORPHA:447
Wilson Disease
Hemolytic anemia, Anemia, Thrombocytopenia, Splenomegaly OMIM:277900
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:615846
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Sparse axillary hair, Splenomegaly, Microcytic anemia, Premature graying of hair,... OMIM:256040
Pearson Syndrome
Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thrombocyto... ORPHA:699
Ogden Syndrome
Sparse eyebrow, Polycythemia, Iron deficiency anemia, Long eyelashes, Fine hair, Thrombocytopenia OMIM:300855
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Splenomegaly OMIM:301072
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Caroli Syndrome
Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism ORPHA:480520
Hepatocellular Carcinoma
Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia ORPHA:88673
Roberts Syndrome
Thrombocytopenia, Sparse hair ORPHA:3103
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... OMIM:619573
Brucellosis
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism ORPHA:1304
Jacobsen Syndrome
Aplasia/Hypoplasia of the eyebrow, Thrombocytopenia ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Anemia, Thrombocytopenia, Fine hair ORPHA:534
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Primary Sjögren Syndrome
Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Hemorrhagic Fever-Renal Syndrome
Anemia, Thrombocytopenia, Leukocytosis ORPHA:340
Fanconi Anemia
Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia, Leukopenia ORPHA:84
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Pancytopenia, Anemia, Thrombocytopenia ORPHA:2072
Marburg Hemorrhagic Fever
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly ORPHA:567
Gaucher Disease
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:355
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:470
Sarcoidosis
Alopecia, Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell ... ORPHA:797
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia ORPHA:99827
Liver Disease, Severe Congenital
Lymphocytosis, Splenomegaly, Leukopenia, Dry hair, Nail dystrophy, Anemia, Thrombocytopenia OMIM:619991
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Anemia, Microcytic anemia, Splenomegaly OMIM:619525
Hardikar Syndrome
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:301068
Chronic Visceral Acid Sphingomyelinase Deficiency
Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopenia, Acute promyelocytic leukemia, Hypers... ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly ORPHA:731
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia ORPHA:51
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Woolly hair, Amegakaryocytic thrombocytopenia, Low posterior ha... OMIM:163950
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Yellow Fever
Thrombocytopenia, Neutrophilia, Leukocytosis ORPHA:99829
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly OMIM:188400
Leptospirosis
Thrombocytopenia ORPHA:509
Floating-Harbor Syndrome
Generalized hypertrichosis, Hirsutism, Long eyelashes, Low posterior hairline OMIM:136140
Non-Specific Syndromic Intellectual Disability
Frontal upsweep of hair, Highly arched eyebrow ORPHA:528084
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
OMIM:619595
Floating-Harbor Syndrome
ORPHA:2044

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)