banner
Genes Phenotypes Help, News, Blog

Gene: Faap20 MGI:1914763

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:
Fanconi anemia core complex associated protein 20
Synonyms:
2610002J02Rik

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 Faap20 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 Faap20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
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
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... OMIM:619041
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Megaloblastic bone marrow, Decreased circulating a... ORPHA:859
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Pancytopenia, Elevated circulating thyroid-stimulating hormone con... OMIM:617872
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, B lymphocytopenia, Cervical intraepithelia... OMIM:614172
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Absent circulating B cells, Decreased circulating IgG level, Complete... OMIM:620282
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Prolonged G2 phas... OMIM:600901
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter OMIM:210740
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Micropenis... OMIM:606593
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Type II diabetes... ORPHA:99812
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... ORPHA:562
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Prolonged G2 phas... OMIM:227645
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy... OMIM:613990
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Primary Myelofibrosis
Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leuko... ORPHA:824
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Hypothyroidism ORPHA:85321
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia OMIM:614742
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Pancytopenia, Hemophagocytosis, Hepatosplenomegaly OMIM:619858
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... ORPHA:507
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia OMIM:604416
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pancytopenia, Anemia OMIM:613951
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... OMIM:613011
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... OMIM:617052
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopenia, Elevated... OMIM:242900
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... OMIM:615122
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Pancytopenia, Hypospadias, Anemia OMIM:620331
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Annular pancreas,... OMIM:227646
Transaldolase Deficiency
Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia OMIM:606003
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Leukope... ORPHA:520
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone... ORPHA:101096
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:616553
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... OMIM:618986
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroi... OMIM:300519
Seckel Syndrome 1
Cryptorchidism, Pancytopenia, Hypospadias, Clitoral hypertrophy OMIM:210600
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Anemia OMIM:607426
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr... OMIM:275350
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Hypogonadism, Micropenis, Thrombocytopenia OMIM:300514
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Thrombocytopenia OMIM:613845
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... OMIM:613989
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Increased mean corpuscular volume, Ne... ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... OMIM:235200
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... ORPHA:77259
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Diabetes mellitus, Aplastic anemia,... ORPHA:811
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... ORPHA:99867
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Splenomegaly, Type I diabetes mellitus, Hypothyroidism, Hashimoto th... OMIM:613385
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... OMIM:603553
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Le... OMIM:305000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, H... ORPHA:228426
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu... OMIM:557000
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Leukocytosis, Graves disease, Polycythemia, Anemia ORPHA:542643
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... ORPHA:1855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... OMIM:615688
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly ORPHA:309288
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Aplastic anemia, Cryptorchidism, Hypogonadism, Neutropenia, Leuk... ORPHA:221008
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... ORPHA:699
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Decreased circulating... OMIM:223370
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Splenomegaly, Infertility, ... ORPHA:465508
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Azoo... ORPHA:2072
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia OMIM:618321
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed puberty, Thromb... ORPHA:77261
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Secondar... ORPHA:2785
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Orchitis, Thrombocytopenia, Leukocytosis, Epididymitis, Splenomegaly,... ORPHA:99827
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Cryptorchidism, Neutropenia, Leukemia, Anemia ORPHA:221016
Degcags Syndrome
Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leu... OMIM:619488
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Hypot... OMIM:615846
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Rothmund-Thomson Syndrome
Aplastic anemia, Infertility, Neutropenia, Leukemia, Anemia ORPHA:2909
Fanconi Anemia, Complementation Group N
Aplastic anemia OMIM:610832
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia OMIM:231005
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small scrotum, Bile duct proliferation, Anemia OMIM:613658
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly ORPHA:309282
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed puberty, Thromb... ORPHA:355
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Increased... OMIM:181000
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Chronic Graft Versus Host Disease
Pancytopenia, Abnormal vagina morphology, Phimosis ORPHA:99921
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Myeloid leukemia, Central hypothyroidism, Micropenis, Annular pancreas ORPHA:798
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226

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 Faap20

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 Faap20.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress. Stem cells (Dayton, Ohio) (May 2015) Faap20tm1(KOMP)Mbp PMC4478209

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
Faap20tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Faap20tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, 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