Gene Summary

Name:
family with sequence similarity 83, member B
Synonyms:
C530008M07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Fam83bem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Fam83bem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Fam83bem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Fam83bem1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Fam83bem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Fam83bem1(IMPC)Mbp HOM Early adult 2.24×10-05
abnormal testis morphology Fam83bem1(IMPC)Mbp HOM Early adult 0.00
cataract Fam83bem1(IMPC)Mbp HOM Early adult 7.52×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Fam83b 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 Fam83b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Partington Syndrome
Macroorchidism ORPHA:94083
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Cataract 42
Cataract, Developmental cataract OMIM:115900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Male hypogonadism, Macroorchidism OMIM:300055
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology ORPHA:180229
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma... ORPHA:562
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Fragile X Syndrome
Macroorchidism ORPHA:908
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Cataract, ... ORPHA:2377
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Chronic kidne... ORPHA:3156
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly ORPHA:1046
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism ORPHA:324410
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I... ORPHA:1473
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Hyperthreoninuria, Cataract, Pigmentary retinopathy OMIM:204000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Trisomy 20P
Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Cryptorchidism, Mac... ORPHA:261318
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy OMIM:105200
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
46,Xy Sex Reversal 10
Gonadal dysgenesis, Perineal hypospadias, Hypospadias, Ovotestis, Bifid scrotum, Decreased testic... OMIM:616425
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto... ORPHA:290
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy OMIM:618220
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Goiter, Increased circ... ORPHA:90674
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro... OMIM:222300
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in urine, Hepatosplen... ORPHA:79237
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excr... OMIM:256550
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93476
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Galactosemia I
Cirrhosis, Hepatomegaly, Galactosuria, Hypergonadotropic hypogonadism, Increased level of galacti... OMIM:230400
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Proteus Syndrome
Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonattac... ORPHA:744
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S... ORPHA:79477
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb... ORPHA:2969
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pitu... OMIM:610125
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Sple... OMIM:235200
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Pancytopenia, Bifid scrotum, Renal hypoplasia, Cataract, Cryptorchidism, Ren... ORPHA:85321
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Cataract, Ambiguo... ORPHA:3376
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo... OMIM:301108
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney... OMIM:208540
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He... ORPHA:1359
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy OMIM:300578
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Cataract, Nephropathy OMIM:247410
Warburg Micro Syndrome 2
Optic atrophy, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryptorchidism, Micr... OMIM:614225
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem... ORPHA:231222
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Unilateral renal hypoplasia OMIM:619950
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Cataract, Aspartylglucosaminuria, Macroorchidism, Neutropenia OMIM:208400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Alpha-Mannosidosis, Adult Form
Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor ORPHA:309288
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hypoparathyroidism OMIM:146200
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Developmental cataract, Splenomegaly, Crypto... OMIM:618440
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Splenomegaly, Hypogonadism, Cryptor... ORPHA:251066
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hydroneph... ORPHA:1655
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis OMIM:605309
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Mul... ORPHA:3301
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem... OMIM:240300
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete... OMIM:120330
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Meckel Syndrome
Optic atrophy, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Microcornea,... ORPHA:564
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma OMIM:212550
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Hematuria, Biliary tra... ORPHA:77259
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly... ORPHA:294
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata... OMIM:203780
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re... OMIM:243605
Amyloidosis, Finnish Type
Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 ... OMIM:105120
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypop... OMIM:610199
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Exudative Vitreoretinopathy 6
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... OMIM:616468
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Chops Syndrome
Optic atrophy, Vesicoureteral reflux, Splenomegaly, Cataract, Cryptorchidism, Horseshoe kidney OMIM:616368
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy OMIM:230800
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa... OMIM:269200
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom... OMIM:617913
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia OMIM:608885
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Lymphangioma, Bi... ORPHA:1571
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... OMIM:612109
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P... OMIM:305000
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Atelis Syndrome 2
Thrombocytopenia, Anemia, Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomega... OMIM:263700
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma OMIM:231005
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Urethral ... OMIM:273395
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... OMIM:619539
Holoprosencephaly 2
Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170

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 Fam83b

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 Fam83b.

No publications found that use IMPC mice or data for Fam83b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fam83bem1(IMPC)Mbp Exon Deletion Mice, Tissue
Fam83btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam83btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam83btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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