banner
Genes Phenotypes Help, News, Blog

Gene: Rpl27a MGI:1347076

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ribosomal protein L27A
Synonyms:
L27',  L27A,  ribosomal protein L29 homolog (yeast)

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Rpl27a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Rpl27a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sen... OMIM:159550
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... ORPHA:2585
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Cerebellar vermis hypoplasia,... OMIM:604498
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, ... OMIM:610333
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... ORPHA:75564
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing... OMIM:194350
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Short stature, Reticulated skin pigmentation, Avascular ne... OMIM:613990
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Ataxia, Single transverse palmar crease, Uplifted earlobe, Short stat... ORPHA:251009
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Reticulated skin pigmentation, Palmoplantar hyperke... OMIM:613989
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased m... OMIM:613839
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Short stature, Splenomegaly, Myoclonus, Decreased body weight... OMIM:231000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Partial absence of specific antibody response to t... OMIM:619824
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... ORPHA:318
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Duplication of thumb phalanx, Thrombocytopen... OMIM:616435
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Hydrocephalus, Spastic tetraplegia, Anemia, Hypertonia, Cerebellar hypoplasi... OMIM:619302
Diamond-Blackfan Anemia 17
Anemia, Hyperpigmentation of the skin OMIM:617409
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Ataxia, Portal hypertension, Premature graying of hair, Growth delay, Hepatic fibro... OMIM:617341
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Cerebellar hypoplas... OMIM:619301
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Megaloblastic bone marrow, Decreased circulating a... ORPHA:859
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Generalized hyperpigmentation, Ataxia, Short stature, Thrombocytop... ORPHA:3322
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... OMIM:619041
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Impaired T cell function, Postaxial polydactyly, ... OMIM:614576
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Melanocytic nevus, Anemia, Thrombocytopenia ORPHA:3319
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Dysgenesis of the cerebellar vermis, Spasticity, Failure to thrive, Thromb... ORPHA:67048
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Reduced natural killer cell activity, Splenomegaly, Anemia, Failure ... OMIM:616050
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... ORPHA:507
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Short stature, Areflexia of upper limbs, Sensorineural hearing impair... OMIM:616291
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Pancytopenia, Mixed hearing impairment, Ataxia, Hepatosplenomegaly, Clumsiness ORPHA:309288
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Clubbing o... OMIM:614742
Primary Myelofibrosis
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia,... ORPHA:824
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... OMIM:620282
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cerebellar hypoplasia, Intrauterine g... OMIM:616553
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Reticular hyperpigmentation, Hepatic necrosis, Prematu... OMIM:127550
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia OMIM:188000
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hydrocephalus, Megalob... ORPHA:2169
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Pancytopenia, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Lo... OMIM:607426
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ... OMIM:614743
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Sensorineural hearing impairment, Radioulnar... ORPHA:71289
Bangstad Syndrome
Pancytopenia, Severe short stature, Small for gestational age, Progressive cerebellar ataxia, Goiter OMIM:210740
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s... ORPHA:85212
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Growth delay, Cholestatic liver disease, Granuloma, Hepatic fib... OMIM:619858
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Sensorineural hearing impairment OMIM:614675
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Reticulated skin pigmentation, Growth delay, Bone marrow hypocellularity, Cirrhosis... OMIM:613987
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Thrombocytopenia OMIM:166990
Forsythe-Wakeling Syndrome
Short stature, Growth delay, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia OMIM:613606
Seckel Syndrome 1
Pancytopenia, Cerebellar vermis hypoplasia, Sandal gap, Abnormal finger flexion crease, Single tr... OMIM:210600
Griscelli Syndrome
Encephalocele, Hepatomegaly, Ataxia, Short stature, Abnormality of neutrophils, Silver-gray hair,... ORPHA:381
Revesz Syndrome
Aplastic anemia, Ataxia, Hypertonia, Bone marrow hypocellularity, Cerebellar hypoplasia, Intraute... OMIM:268130
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine gr... OMIM:620133
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Thrombocytosis, S... OMIM:604416
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphaden... OMIM:614700
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Small for gestational age, Hypermelanotic macule, Abnormal immunoglo... OMIM:242900
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Growth delay, Neutropenia, Multiple cafe-au-lait spots, Leukem... OMIM:614082
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Hydrocephalus, Flared metaphysis, Coxa ... OMIM:259700
Amed Syndrome, Digenic
Acute myeloid leukemia, Hyperpigmentation of the skin, Short stature, Thrombocytopenia, Leukopeni... OMIM:619151
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... ORPHA:572
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Reticular hyperpigmentation, Decreased circulating antibody level, Premature grayin... OMIM:619767
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa... OMIM:606003
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid... OMIM:275350
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Reduced natural killer cell activity, Thrombocytopenia, Splen... OMIM:603553
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Thrombocytopenia, Hydrocephalus, S... ORPHA:398124
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Congenital sensorineural hearing impairment, Failure to thrive, Hepat... OMIM:617872
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Stt3B-Cdg
Cerebellar atrophy, Cryptorchidism, Intrauterine growth retardation, Failure to thrive, Thrombocy... ORPHA:370924
Mevalonic Aciduria
Cerebellar atrophy, Normocytic hypoplastic anemia, Agenesis of cerebellar vermis, Ataxia, Failure... OMIM:610377
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Tapered finger, Long fingers, Leukemia, Decreased CD4:CD8 r... OMIM:614038
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Aplastic anemia, Short stature, Hype... OMIM:617052
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Short stature, Absent thumb, Absent radius, Thrombocytop... OMIM:227645
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Cryptorchidism, Intrauterine growth retardation, Failure to thrive, Thrombocy... OMIM:615597
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th... OMIM:229050
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Short stature, Absent thumb, Absent radius, Thrombocytop... OMIM:600901
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Failure to thrive in infancy, Hydrocephalus, J... ORPHA:858
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Diaphyseal sclerosis, Hepatosplenomega... OMIM:259710
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D... OMIM:615122
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Loss of ambulation, Intrauterine ... OMIM:615010
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Anemia, Neutropenia, Failure to thrive, Pancreatitis, ... OMIM:606054
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Thrombocytopenia, Splen... OMIM:230800
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Fair hair, Proportionate short stature, Hyperpigmented/hypopigmented macules, Crypt... OMIM:620331
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Short stature, Absent thumb, Absent radius, Thrombocytop... OMIM:227650
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Fanconi Anemia, Complementation Group D2
Reticulocytopenia, Aplasia of the 1st metacarpal, Abnormality of skin pigmentation, Neutropenia, ... OMIM:227646
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Incoordination, Small for gestational age, Short stature, Megaloblast... OMIM:277380
Fanconi Anemia, Complementation Group B
Aplastic anemia, Absent thumb, Hydrocephalus, Bilateral radial aplasia, Growth delay, Cerebellar ... OMIM:300514
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Hearing impairment, Absent thumb, Short thumb, Cryptorchidism, Hypop... OMIM:613951
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Chiari malfor... OMIM:618624
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Clonus, Thrombocytopenia... OMIM:259720
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... OMIM:618986
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Lower limb spast... OMIM:615846
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Single transverse palmar... OMIM:613385
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Erlenmeyer flask deformity of the f... OMIM:610539
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Lymp... ORPHA:101096
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytope... OMIM:614172
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Intrau... OMIM:617710
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Rocker bottom foot, Low-set ears, Intrauterine growth retardation, Hypoplasti... ORPHA:89844
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Short stature, Reticulated skin pigmentation, Throm... OMIM:305000
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphade... ORPHA:520
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Reticular hyperpigmentation, Palmop... OMIM:224230
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Hepatomegaly, Posteriorly rotated ears, Short stature, Diaphyseal dysplasi... OMIM:614727
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Met... OMIM:260400
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Bone Marrow Failure Syndrome 4
Rhizomelia, Short stature, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow ... OMIM:618116
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Growth delay, Increa... ORPHA:77259
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Autoimmune hemolytic anemia, Pancytopenia, Short stature, Decreased respon... ORPHA:1855
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... OMIM:607616
Aicardi-Goutieres Syndrome 3
Spasticity, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity OMIM:613988
Cog7-Cdg
Cerebellar atrophy, Hepatomegaly, Small for gestational age, Postnatal growth retardation, Long f... ORPHA:79333
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Spastic tetraplegia, Growth delay, Hypertonia, Decreased testicular size, T... OMIM:601815
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... ORPHA:169079
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Bone marrow maturation arrest, Rhizomelia, Tremor, Brachioradialis ar... OMIM:616271
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t... ORPHA:90045
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Atelis Syndrome 1
Anemia, Leukopenia, Microtia, Hypertonia, Irregular hyperpigmentation, Cafe-au-lait spot, Thrombo... OMIM:620184
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Hyperpigmented streaks, Anemia, Paresthesia, Hyperesthesia, Polycythe... ORPHA:542643
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:613845
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Specific Granule Deficiency 2
Absent neutrophil specific granules, Bone marrow maturation arrest, Sandal gap, Abnormal pinna mo... OMIM:617475
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Slurred speech, Euthyroid goiter, Myoclonus, Nonprogressive cer... ORPHA:3327
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Low-frequency sensorineural hearing impairment, Hepatosplenomegal... OMIM:613101
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Syndactyly... OMIM:605432
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy, Growth... ORPHA:99812
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Tremor, Cryptorchidism, Sensorineural hearing impairment, Hypertonia, Gait disturb... ORPHA:1192
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Malaria
Anemia, Gait imbalance, Thrombocytopenia ORPHA:673
Lig4 Syndrome
Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Clinodacty... OMIM:606593
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... ORPHA:158048
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Short stature, Abnormality of the tonsi... ORPHA:229717
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Single transverse palmar crease, Conductive hearing impairment, Rhi... OMIM:611209
Chediak-Higashi Syndrome
Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy... OMIM:214500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Pancreatitis... ORPHA:79312
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Short stature, Abnormality of the tonsils, Thrombocytopeni... ORPHA:47
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Choreoathetosis, Leukopen... ORPHA:27
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Copper accumulation in liver, Growth delay, Anemia, Myoclonus, Elevated hepat... OMIM:614946
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Anemia, Growth delay, Neutropenia,... ORPHA:289916
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Intrauterine growth retardation ORPHA:295
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatospleno... OMIM:615688
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Splenomegaly, Sensorineural hea... ORPHA:290
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Communicating hydrocephalus, Pancytopenia, Mixed hearing impairment, Ataxia, ... ORPHA:309282
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Pancytopenia, Failure to thrive in infancy, Cholangitis, Porta... ORPHA:228426
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth retardat... OMIM:619751
Gaucher Disease
Hepatomegaly, Pancytopenia, Ataxia, Short stature, Tremor, Splenomegaly, Hydrocephalus, Hemiplegi... ORPHA:355
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Granulocytic hyperplasi... OMIM:226990
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Pancytopenia, Broad-based gait, Cachexia, Paralysis, Abnormality of the spleen, Hy... ORPHA:2072
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Sea-Blue Histiocytosis
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... ORPHA:158029
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Anemia, Growth delay, Gait disturbance, Increas... ORPHA:77261
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Tremor, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... OMIM:616740
Thyrocerebroretinal Syndrome
Ataxia, Sensorineural hearing impairment, Slurred speech, Myoclonus, Thrombocytopenia, Goiter OMIM:274240
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Megakaryocyte dysplasia, Sensorineural hearing impairment, Giant plat... OMIM:155100
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Felty Syndrome
Hepatomegaly, Generalized hyperpigmentation, Thrombocytopenia, Splenomegaly, Weight loss, Lymphad... ORPHA:47612
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... ORPHA:86841
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Short thumb, Cafe-au-lait spot, Aplastic anemia OMIM:610832
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Mirage Syndrome
Short stature, Rocker bottom foot, Thrombocytopenia, Hydrocephalus, Radial club hand, Cryptorchid... OMIM:617053
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Low-set ears ORPHA:85321
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy... OMIM:124900
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Jaundice, Cerebellar hypoplasia, Low-set ears, Spasticity, Failure to... OMIM:251290
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Small for gestational age, Rocker bottom foot, Posteriorly rotated ears, Coxa valga... OMIM:301056
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un... OMIM:169400
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Bilateral sensorineural hearing i... OMIM:618321
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Leukopenia, Clinodactyl... ORPHA:108
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair... ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Cog4-Cdg
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Cirrhosis, Thrombocytopen... ORPHA:263501
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the skin, Thrombo... OMIM:614171
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Rhabdoid Tumor
Cerebral palsy, Lymphadenopathy, Anemia, Weight loss, Neoplasm of the liver, Hemiplegia, Thromboc... ORPHA:69077
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ataxia, Short stature, Thiamine-responsive megaloblastic anemia, Sensorineu... OMIM:249270
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambula... OMIM:615838
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Postural tremor, Tapered finger, Splenom... OMIM:301072
Preeclampsia
Increased body mass index, Small for gestational age, Polycystic ovaries, Abnormality of the hepa... ORPHA:275555
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Small for gestational age, Refractory siderobla... OMIM:557000
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Short stature, Inability to walk, Sensorineural hearing impairment, Hypertonia, Spasticity, Failu... OMIM:616577
Fanconi Anemia, Complementation Group F
Hyperpigmentation of the skin, Decreased response to growth hormone stimulation test, Short statu... OMIM:603467
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cerebellar hypoplasia, Congenital thrombocytopenia, Anemia OMIM:618886
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Lathosterolosis
Hepatomegaly, Toe syndactyly, Hearing impairment, Intrahepatic cholestasis, Postaxial hand polyda... ORPHA:46059
Wilson Disease
Hepatomegaly, Abnormality of the hand, Splenomegaly, Jaundice, Increased body weight, Hepatitis, ... ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Megaloblastic anemia, Sensorineural hearing impairment, Paresthesia, Thrombocytopenia ORPHA:49827
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Short stature, Hypermelanotic macule, Decreased proportion... ORPHA:1830
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Sensorineural hearing impairment, Anemia, Hydrocele testis, Radioulnar synostosis, Short middle p... OMIM:616738
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... OMIM:615190
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia OMIM:616744
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... ORPHA:100024
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anem... OMIM:254900
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate prod... OMIM:615631
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Macrotia, Enlarged tonsils, Anemia, Leukopenia, Ellipt... ORPHA:2785
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Tularemia
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Abnormal naso... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thr... OMIM:603585
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Small for gestational age, Aplastic anemia, Short stature, Metaphyseal sclerosi... ORPHA:221008
Alg8-Cdg
Small for gestational age, Ataxia, Anemia, Talipes equinovarus, Low-set ears, Camptodactyly, Intr... ORPHA:79325
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hearing impairment, Lim... OMIM:222300
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Arachnodactyly, Abnormality of neutrophils, Hearing impairment, Short stature, Hydrocepha... ORPHA:2720
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Talipes equinovarus, Low-set ears, Camptodacty... OMIM:608104
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... ORPHA:33355
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoi... ORPHA:331206
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymp... OMIM:209950
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Short stature, Cerebellar calcifications, Inability to walk, Splenomegaly, Abnormal... OMIM:225750
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Hypopigmentation of t... ORPHA:221016
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Hydrocephalus, Chiari type I malformation, Growth delay, Bone mar... OMIM:617244
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Broad ulna, Small for gestational age, Aplastic anemia, Short stature, Ap... ORPHA:2909
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Ataxia, Overlapping toe, Increased mean platelet volume, Proximal placement o... OMIM:616737
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Decreased c... ORPHA:99867
Degcags Syndrome
Vocal cord paralysis, Abnormality of skin pigmentation, Premature graying of hair, Leukopenia, Ir... OMIM:619488
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Neutropenia, Thromb... OMIM:598500
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Postnatal growth retardat... OMIM:612199
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidism, Decrease... OMIM:616638
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Abnormal me... ORPHA:67044
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Posteriorly rotated... OMIM:608233
Tufted Angioma
Megakaryocytopenia, Anemia, Paresthesia, Thrombocytopenia ORPHA:1063
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy, Anemia, Leukopenia, H... OMIM:267700
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... OMIM:301082
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Dysmet... OMIM:616541
Hemochromatosis, Type 2B
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure ... OMIM:614520
Braddock-Carey Syndrome 2
Megakaryocytopenia, Atresia of the external auditory canal, Clinodactyly, Thrombocytopenia, Heari... OMIM:619981
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Hyperpigmentation of the skin ORPHA:75563
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly ORPHA:101028
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... ORPHA:494444
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, ... OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital hepatic fibrosis... ORPHA:974
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone marrow hypercellularity, Acute myeloid leukemia, Neutrophilia, Hepatomega... ORPHA:98849
Gaucher Disease, Type Iiic
Splenomegaly, Hydrocephalus, Pancytopenia, Hepatomegaly OMIM:231005
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... OMIM:304790
Immunodeficiency 91 And Hyperinflammation
Megakaryocytopenia, Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis,... OMIM:619644
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev... OMIM:615234
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Braddock-Carey Syndrome 1
Posteriorly rotated ears, Small hand, Spastic diplegia, Growth delay, Talipes equinovarus, Campto... OMIM:619980
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Short stature, Postnatal growth r... OMIM:616113
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... ORPHA:210136
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Thrombocytopenia, Elliptocytosis, Bone marrow hypocellularity, P... OMIM:300835
Boutonneuse Fever
Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Incr... ORPHA:83313
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involu... ORPHA:48818
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short stature, Postnatal ... ORPHA:261323
Aicardi-Goutieres Syndrome 5
Spasticity, Thrombocytopenia OMIM:612952
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Holocarboxylase Synthetase Deficiency
Growth delay, Ataxia, Thrombocytopenia, Weight loss ORPHA:79242
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Megakaryocyte dysplasia, Short stature, Hearing impairment, Thro... ORPHA:508542
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Martin-Probst Syndrome
Pancytopenia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic nipple... OMIM:300519
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Thrombocytopenia OMIM:188025
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly,... OMIM:612541
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614857
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ataxia, Arachnodactyly, Short stature, Abnormal thumb morphology, Crypt... ORPHA:2719
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
Dubowitz Syndrome
Syndactyly, Aplastic anemia, Single transverse palmar crease, Short stature, Postnatal growth ret... OMIM:223370
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Short stature, Tapered finger, Erythroid hypoplasia, Short toe, Preaxi... OMIM:620072
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... ORPHA:297
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Sensorineural hearing impairmen... ORPHA:540
Slc35A1-Cdg
Giant platelets, Abnormal megakaryocyte morphology, Neutropenia, Abnormal platelet granules, Thro... ORPHA:238459
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Femoral bowing, Clinodactyly of the 5th finger, Short phalanx of fi... OMIM:274000
Alg12-Cdg
Proximal placement of thumb, Clinodactyly of the 5th finger, Partial absence of specific antibody... ORPHA:79324
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebellar hypoplasia, Thrombocytopenia OMIM:617397
Zika Virus Disease
Wrist swelling, Retinal pigment epithelial mottling, Increased circulating IgM level, Transient h... ORPHA:448237
Sengers Syndrome
Growth delay, Thrombocytopenia OMIM:212350
Gracile Bone Dysplasia
Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Hypoplastic spleen, Failure to thrive,... OMIM:602361
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Intermediate Osteopetrosis
Thrombocytopenia, Erlenmeyer flask deformity of the femurs, Anemia, Hepatosplenomegaly ORPHA:210110
Moyamoya Disease 6 With Or Without Achalasia
Hemiparesis, Thrombocytopenia OMIM:615750
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Posteriorly rotated ears, ... ORPHA:163979
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Pancytopenia, Small for gestational age, Short stature, Portal hypertension, C... OMIM:613658
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Increase... OMIM:617591
Primary Sjögren Syndrome
Normocytic anemia, Somatic sensory dysfunction, Chronic active hepatitis, Parotitis, Abnormal cer... ORPHA:289390
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Protru... ORPHA:235
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Metaphyseal widening, Inability to walk, Clubbing, Anemia, Leukopenia... OMIM:617303
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Microtia, Low-set... OMIM:608013
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decrease... OMIM:618165
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Low-set, posteriorly rotated ears, Overlapping toe, Increased mean platelet v... ORPHA:487796
Agammaglobulinemia 9, Autosomal Recessive
Sensorineural hearing impairment, Agammaglobulinemia, Absent circulating B cells, Failure to thri... OMIM:619693
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Small for gestational age, Mild postnatal growth r... OMIM:224120
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Albinism, Impaired ADP-induced platelet aggregation, Ocular albin... OMIM:614074
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Senso... OMIM:300972
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Premature graying of hair, Anemia, Lymphopenia, Thrombocytop... OMIM:620365
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... OMIM:181000
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Farber Disease
Short stature, Intrahepatic cholestasis with episodic jaundice, Abnormality of the hand, Parapare... ORPHA:333
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Thrombocytopenia, Spastic diplegia, Increased mean platelet volume OMIM:300048
Pediatric-Onset Graves Disease
Hepatomegaly, Tremor, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodie... ORPHA:525731
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Abnormal pinna morphology, Cerebellar hypoplasia, Low-set ears, Ce... OMIM:609069
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Elevated ... ORPHA:124
Acute Radiation Syndrome
Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm... ORPHA:454831
Abcd Syndrome
White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Large for gestational age, A... OMIM:600501
Immunodeficiency 22
Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Decreased circ... OMIM:615758
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Hyperechogenic pancreas, Exocrine pancreatic insu... OMIM:617941
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Tremor, Hydrocephalus, Macrotia, Pigmentary retinopathy, Abnormality of ext... OMIM:277400
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Ataxia, Short stature, Acanthocytosis, Abnormal erythrocyte morphol... ORPHA:96180
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Orchitis, Splenomegaly, ... ORPHA:99827
Noonan Syndrome 4
Posteriorly rotated ears, Short stature, Large for gestational age, Cryptorchidism, Blue irides, ... OMIM:610733
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, W... ORPHA:514
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Th... OMIM:612394
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:251000
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Low-set, posteriorly rotated ears, Thrombocytopenia ORPHA:1237
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Reduced antigen-specific T... OMIM:616433
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Ataxia, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Abnormal cerebel... ORPHA:77293
Recon Progeroid Syndrome
Attached earlobe, Arachnodactyly, Short stature, Proximal placement of thumb, Anemia, Growth dela... OMIM:620370
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Hydrocephalus, Growth delay, Anotia, Bilateral talipes equinovarus, ... OMIM:614083
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... ORPHA:93323
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Hypopigmentation of hair, Cerebellar vermis hypopla... OMIM:242840
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... ORPHA:300298
Snakebite Envenomation
Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Hypopituitarism, Thrombocytopenia ORPHA:449285
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Brachydactyly, Severe short stature, Small for gestational age, Proximal placement of... OMIM:615789
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Hepatic melanin-like lysosomal pigmentation, Jau... OMIM:208085
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Gaucher Disease, Type Ii
Hepatomegaly, Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure... OMIM:230900
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Short stature, Hypermelanotic macule, Abnormality of neut... ORPHA:1775
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Short stature, Postnatal growt... ORPHA:168577
Myh9-Related Disease
Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc... ORPHA:182050
Fanconi Anemia
Abnormal femur morphology, Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver... ORPHA:84
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... ORPHA:292
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Ataxia, P... OMIM:616263
Ivic Syndrome
Severe short stature, Hearing impairment, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of ... ORPHA:2307
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Hydrocephalus, Inability to walk, Hepatosp... ORPHA:505248
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Megaloblastic anemia, Hydrocephalus, Jaundice, Growth delay, Pigmentary retinopathy, Poor... ORPHA:79282
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Hypermelanotic macule, Thrombocytopenia OMIM:112200
Brucellosis
Liver abscess, Chorea, Leukopenia, Increased circulating IgG level, Abnormality of the liver, Hep... ORPHA:1304
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... ORPHA:169105
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... ORPHA:160
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sandal gap, Short stature, Dysgammaglobulinemia, Retinal pigment epi... OMIM:251260
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Leukopenia,... ORPHA:206572
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Mogs-Cdg
Decreased circulating IgG level, Absent brainstem auditory responses, Hepatomegaly, Sensorineural... ORPHA:79330
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system,... ORPHA:464329
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Icf Syndrome
Communicating hydrocephalus, Short stature, Abnormality of neutrophils, Decreased circulating ant... ORPHA:2268
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Paralysis, Thrombocytopenia, Goiter ORPHA:83601
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Normochromic anemia, Cholelithiasis, Thrombocytopenia, Intrauterine gr... OMIM:618775
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Clubbing, He... ORPHA:3260
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, ... ORPHA:90051
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Short stature, Splenomegaly, Jaund... OMIM:263700
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thromboc... ORPHA:93552
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Short stature, Abnormal palmar dermatoglyphics, Abnormality of s... OMIM:620040
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Khan-Khan-Katsanis Syndrome
Lymphopenia, Cerebellar vermis hypoplasia, Short stature, Postaxial polydactyly, Sensorineural he... OMIM:618460
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Vexas Syndrome
Macrocytic anemia, Megakaryocyte dysplasia, Chondritis of pinna, Sensorineural hearing impairment... OMIM:301054
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyperplasia, Thrombocytopenia ORPHA:96181
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Absent thumb, Short thumb, Parti... OMIM:105650
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Spasticity, Holoprosencephaly, Low-set ears, Clinodactyly of the 5... OMIM:147791
Atelis Syndrome 2
Single transverse palmar crease, Thrombocytopenia, Dysmetria, Protruding ear, Low-set ears, Clino... OMIM:620185
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia ORPHA:391673
Q Fever
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Weight loss, Lymphadenopathy, ... ORPHA:781
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged n... OMIM:274150
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Thrombocytopenia, Splenomegaly, Cervical lymph... ORPHA:50918
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Premature graying of hair, Increased circulating IgG level, Hepatomegaly, Shor... OMIM:256040
Catastrophic Antiphospholipid Syndrome
Chorea, Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia ORPHA:464343
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopenia, Hemopha... OMIM:222700
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Impaired pain sensation, Cryptorchidism, Increa... OMIM:619005
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Thrombocytopenia, Splenomegaly, Leukopenia, Pare... ORPHA:79277
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Wri... ORPHA:3103
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased response to growth hor... OMIM:619004
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Single transverse palmar crease, High-frequency hearing impairment, Anemia, Talipe... OMIM:619743
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia OMIM:616937
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Poor motor coordination, Tremor, Splenomegaly... OMIM:277900
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Freckling... ORPHA:647
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Cryptorchidism, Protruding ear, Increased mean corpuscular volume, T... ORPHA:261250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Hemiparesis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Conductive hearing impairment, Small earlobe,... ORPHA:567
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Rift Valley Fever
Paralysis, Paraparesis, Jaundice, Hepatitis, Anemia, Hemiparesis, Increased circulating IgG level... ORPHA:319251
Avian Influenza
Leukopenia, Lymphopenia, Hepatitis, Thrombocytopenia ORPHA:454836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Chronic Graft Versus Host Disease
Abnormality of skin pigmentation, Pancytopenia, Weight loss ORPHA:99921
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, Spasticity, Thrombocytopenia, Limb hypertonia ORPHA:457351
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Low-set ears, Neonata... OMIM:601186
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short... ORPHA:2308
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Hepatic steatosis, Thrombocytopenia ORPHA:99901
Shigellosis
Failure to thrive in infancy, Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic h... ORPHA:810
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... OMIM:243910
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Thrombocytopenia OMIM:611126
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Hypertonia, Conductive ... OMIM:122470
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Increased circulating IgA level, Enlarged polycysti... ORPHA:2298
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Impaired temperature sensation,... ORPHA:31150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... ORPHA:391487
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Failure... OMIM:617718
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Lujo Hemorrhagic Fever
Resting tremor, Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Holocarboxylase Synthetase Deficiency
Hypertonia, Thrombocytopenia OMIM:253270
Osteogenesis Imperfecta
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Loss of ambulat... ORPHA:666
Fetal And Neonatal Alloimmune Thrombocytopenia
Cerebral palsy, Bilateral sensorineural hearing impairment, Neonatal alloimmune thrombocytopenia ORPHA:853
Lysinuric Protein Intolerance
Bone marrow hypercellularity, Hepatomegaly, Decreased response to growth hormone stimulation test... ORPHA:470
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Pheochromocytoma, H... OMIM:193300
Bacterial Toxic-Shock Syndrome
Abscess, Peritonitis, Hepatitis, Increased circulating myelocyte count, Abnormality of the upper ... ORPHA:36234
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Short stature, Neonatal alloimmune thrombocytopenia, Tremor, He... ORPHA:51
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... ORPHA:90038
Systemic Lupus Erythematosus
Hemolytic anemia, Chorea, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:536
Ogden Syndrome
Microvesicular hepatic steatosis, Protruding ear, Iron deficiency anemia, Hypertonia, Macrovesicu... OMIM:300855
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Tremor, Leukocytosis, Chorea, Thrombocytosis, Thrombocytopenia ORPHA:94093
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocytopenia, I... ORPHA:797
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Dysesthesia, Orchitis, Jaundice, Neutrophilia in presence of infect... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ... OMIM:619525
Digeorge Syndrome
Parathyroid agenesis, Short stature, Impaired T cell function, Splenomegaly, Obesity, Parathyroid... OMIM:188400
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyperparathyroidism, Short stature, Clonus, Thrombocytopenia, ... ORPHA:534
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Abnormal megakar... ORPHA:274
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Sensorineural hearing impairment, Thrombocytopenia OMIM:301050
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... OMIM:619991
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteol... ORPHA:464321
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Leukocytosis, Hemiparesis, Pancreatitis, Thrombocytopenia ORPHA:544482
Acute Liver Failure
Pain insensitivity, Incoordination, Ataxia, Jaundice, Slurred speech, Hepatitis, Hepatic necrosis... ORPHA:90062
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight ORPHA:340
Yellow Fever
Acute pancreatitis, Neutrophilia, Pancreatic hyperplasia, Leukocytosis, Jaundice, Increased circu... ORPHA:99829
Exercise-Induced Malignant Hyperthermia
Ataxia, Thrombocytopenia ORPHA:466650
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509

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 Rpl27a

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 Rpl27a.

No publications found that use IMPC mice or data for Rpl27a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rpl27atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpl27atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rpl27atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpl27atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rpl27atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter