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Gene: Ces2f MGI:1919153

Gene Summary

Name:

carboxylesterase 2F

Synonyms:

2310038E17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased red blood cell distribution width		Ces2f^{tm1b(KOMP)Wtsi}	HOM		Early adult	4.98×10^-09
thrombocytosis		Ces2f^{tm1b(KOMP)Wtsi}	HOM		Early adult	1.94×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ces2f mutations

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

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

Human diseases associated with Ces2f (0 diseases)
Human diseases predicted to be associated with Ces2f (408 diseases)

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

The table below shows human diseases predicted to be associated to Ces2f by phenotypic similarity.

Disease	Matching phenotypes	Source
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin	Generalized ichthyosis	OMIM:601039
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis	OMIM:600231
Acanthosis Nigricans	Acanthosis nigricans	OMIM:100600
Palmoplantar Keratoderma, Punctate Type Ib	Punctate palmoplantar hyperkeratosis	OMIM:614936
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Ichthyosis Bullosa Of Siemens	Congenital bullous ichthyosiform erythroderma	OMIM:146800
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic palmoplantar hyperkeratosis	OMIM:600962
Porokeratosis 6, Multiple Types	Porokeratosis	OMIM:612353
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Porokeratosis 9, Multiple Types	Porokeratosis	OMIM:616631
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Patchy palmoplantar hyperkeratosis	OMIM:616400
Palmoplantar Keratoderma, Punctate Type Ii	Porokeratosis, Spinous keratoses of palms and soles	OMIM:175860
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Porokeratosis 8, Disseminated Superficial Actinic Type	Porokeratosis	OMIM:616063
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Cataract And Congenital Ichthyosis	Congenital ichthyosiform erythroderma	OMIM:212400
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ichthyosis-Hypotrichosis Syndrome	Ichthyosis	ORPHA:91132
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Ankylosing Vertebral Hyperostosis With Tylosis	Punctate palmar hyperkeratosis	OMIM:106400
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Acanthosis nigricans	OMIM:200170
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	ORPHA:312
Verrucous Hemangioma	Hyperkeratotic papule	ORPHA:464318
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis	OMIM:615022
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma	ORPHA:498359
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis	OMIM:615023
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:602540
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Acquired Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:3406
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma	OMIM:615735
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Bazex Syndrome	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma	ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Congenital non...	OMIM:242300
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Lymphopenia, Thrombocytosis, Anemia	OMIM:615934
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform e...	ORPHA:100976
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:816
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Thrombocytosis, Anemia	ORPHA:20
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis	ORPHA:134
Erythrokeratodermia Variabilis	Hyperkeratosis, Patchy palmoplantar hyperkeratosis	ORPHA:317
Hypotrichosis 6	Follicular hyperkeratosis	OMIM:607903
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas...	OMIM:301074
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Poems Syndrome	Thrombocytosis, Polycythemia	ORPHA:2905
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Lichen Planus Pemphigoides	Hyperkeratosis	ORPHA:254478
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop...	OMIM:615688
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia	OMIM:615486
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:224750
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis	OMIM:616295
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis	OMIM:212065
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Pachyonychia Congenita 3	Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Chilblain Lupus	Hyperkeratosis	ORPHA:90280
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Classic Mycosis Fungoides	Hyperkeratosis	ORPHA:2584
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Vulvovaginal Gingival Syndrome	Parakeratosis	ORPHA:83453
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis	ORPHA:90368
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Brucellosis	Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia	ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Ichthyosis	OMIM:612379
Lichen Planopilaris	Hyperkeratosis	ORPHA:525
Lipoid Proteinosis	Hyperkeratosis, Thickened skin	ORPHA:530
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis	OMIM:615508
Lamellar Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:313
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h...	ORPHA:2309
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Generalized ichthyosis	ORPHA:2269
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
Dowling-Degos Disease	Hyperkeratosis, Hyperkeratotic papule	ORPHA:79145
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule	ORPHA:182
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis	ORPHA:486815
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis	OMIM:617337
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Noonan Syndrome 8	Hyperkeratosis	OMIM:615355
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis	ORPHA:398124
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis	OMIM:613102
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis	OMIM:246200
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c...	ORPHA:2968
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Milroy Disease	Hyperkeratosis	ORPHA:79452
Poikiloderma With Neutropenia	Hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma	OMIM:604173
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Ichthyosis	OMIM:610768
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis	OMIM:614576
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Parakeratosis, Ichthyosis	OMIM:607626
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis	ORPHA:3071
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis	ORPHA:163525
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis	OMIM:609180
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ...	OMIM:257980
Netherton Syndrome	Parakeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:256500
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis	ORPHA:64745
Doors Syndrome	Thrombocytosis	ORPHA:79500
Autoinflammation With Arthritis And Dyskeratosis	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Prolidase Deficiency	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:742
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:608013
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis	ORPHA:1806
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Ichthyosis	OMIM:148210
Psoriasis 14, Pustular	Parakeratosis	OMIM:614204
Acute Radiation Syndrome	Hyperkeratosis	ORPHA:454831
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis	OMIM:301220
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:601675
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis	OMIM:612852
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Orthokeratosis, Hyperkeratosis, Parakeratosis, Congenital ichthyosiform erythroderma	OMIM:308050
Werner Syndrome	Hyperkeratosis	ORPHA:902
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis	OMIM:601812
Cardiofaciocutaneous Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:1340
Cardiofaciocutaneous Syndrome 1	Hyperkeratosis, Ichthyosis	OMIM:115150
Chronic Mucocutaneous Candidiasis	Hyperkeratosis	ORPHA:1334
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Bone Marrow Failure Syndrome 3	Hyperkeratosis	OMIM:617052
Fucosidosis	Generalized hyperkeratosis	ORPHA:349
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Epidermal hyperkeratosis	OMIM:137940
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis	ORPHA:238468
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Meige Disease	Cobblestone-like hyperkeratosis	ORPHA:90186
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin	ORPHA:79430
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis	OMIM:601701
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Noonan Syndrome 10	Hyperkeratosis	OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Ichthyosis	OMIM:607721
Incontinentia Pigmenti	Hyperkeratosis	ORPHA:464
Noonan Syndrome 2	Hyperkeratosis	OMIM:605275
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Chime Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:3474
Incontinentia Pigmenti	Hyperkeratosis	OMIM:308300
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin	ORPHA:910
Kid Syndrome	Congenital ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosis	ORPHA:477
Mucoepithelial Dysplasia, Hereditary	Follicular hyperkeratosis	OMIM:158310
Koolen-De Vries Syndrome Due To A Point Mutation	Hyperkeratosis, Ichthyosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:363958
Reactive Arthritis	Hyperkeratosis	ORPHA:29207
Eec Syndrome	Hyperkeratosis	ORPHA:1896
Leprechaunism	Acanthosis nigricans, Thickened skin, Hyperkeratosis	ORPHA:508
Kindler Epidermolysis Bullosa	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2908
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Ramon Syndrome	Hyperkeratosis	OMIM:266270
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Fabry Disease	Hyperkeratosis	ORPHA:324
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis	OMIM:614557
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Follicular hyperkeratosis	OMIM:225400
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Follicular hyperkeratosis	ORPHA:158668
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Hyperkeratosis, Follicular hyperkeratosis	OMIM:308205
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis	OMIM:129900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis	OMIM:210710
Atypical Werner Syndrome	Hyperkeratosis	ORPHA:79474
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis	ORPHA:276280
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:2273
Kyphoscoliotic Ehlers-Danlos Syndrome	Follicular hyperkeratosis	ORPHA:536545
Leprosy	Hyperkeratosis	ORPHA:548
Restrictive Dermopathy	Generalized hyperkeratosis, Epidermal hyperkeratosis	ORPHA:1662
Warburg-Cinotti Syndrome	Follicular hyperkeratosis	OMIM:618175
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis	ORPHA:83617
Restrictive Dermopathy 1	Epidermal hyperkeratosis	OMIM:275210
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis	ORPHA:744

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 Ces2f

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 Ces2f.

No publications found that use IMPC mice or data for Ces2f.

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MGI Allele	Allele Type	Produced
Ces2f^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ces2f^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ces2f^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ces2f^{tm112784(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ces2f^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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