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Gene: Rpe MGI:1913896

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Gene Summary

Name:
ribulose-5-phosphate-3-epimerase
Synonyms:
5730518J08Rik,  2810429B02Rik

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance Rpeem1(IMPC)Mbp HOM   Early adult 0.00
abnormal testis morphology Rpeem1(IMPC)Mbp HET Late adult 0.00
enlarged kidney Rpeem1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Rpeem1(IMPC)Mbp HET Late adult 0.00
abnormal seminal vesicle morphology Rpeem1(IMPC)Mbp HET Late adult 0.00
enlarged uterus Rpeem1(IMPC)Mbp HET Early adult 0.00
increased freezing behavior Rpeem1(IMPC)Mbp HET Early adult 2.48×10-05
abnormal spleen morphology Rpeem1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Rpeem1(IMPC)Mbp HET Late adult 0.00
small heart Rpeem1(IMPC)Mbp HET Late adult 0.00
small testis Rpeem1(IMPC)Mbp HET Late adult 0.00
embryonic lethality prior to organogenesis Rpeem1(IMPC)Mbp HOM   E9.5 0.00
enlarged seminal vesicle Rpeem1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Rpeem1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Rpeem1(IMPC)Mbp HET Late adult 0.00

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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

47 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

1 Images

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Gross Morphology Embryo E14.5-E15.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Rpe 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 Rpe by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... OMIM:208540
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E... OMIM:613885
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, ... OMIM:613313
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... OMIM:602390
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... OMIM:618280
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Septate vagina, Dextrocardia,... OMIM:608978
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic ... ORPHA:464329
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... OMIM:130650
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
H Syndrome
Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Amenorrhea, Hepatosplenomegaly, ... ORPHA:168569
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopath... OMIM:617303
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy OMIM:608540
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... ORPHA:276280
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Decreased glo... OMIM:232200
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, D... ORPHA:79259
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyro... ORPHA:116
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal... ORPHA:505248
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect... ORPHA:3097
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... OMIM:606003
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... OMIM:278000
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... OMIM:609981
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti... ORPHA:79312
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... ORPHA:79083
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... OMIM:615630
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea... ORPHA:2348
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Amed Syndrome, Digenic
Hypoplasia of the uterus, Attention deficit hyperactivity disorder OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... OMIM:252500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... OMIM:216360
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Hypospadias, Ventricular septal defect, Supernumerary nipple,... OMIM:312870
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... ORPHA:77259
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... OMIM:618495
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria... OMIM:618440
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Decreased t... OMIM:201100
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,... OMIM:612541
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder OMIM:617914
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... OMIM:610199
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Nephrotic s... ORPHA:39041
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... OMIM:608594
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno... ORPHA:342
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... ORPHA:158061
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c... OMIM:615895
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Chops Syndrome
Ventricular septal defect, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Horse... OMIM:616368
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Abnormality... OMIM:222470
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly... OMIM:277900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Thrombocytopenia, L... ORPHA:1304
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectasia, Ascites, Hypot... OMIM:616843
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Prune Belly Syndrome
Decreased testicular size, Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly ORPHA:2970
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
46,Xx Gonadal Dysgenesis
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus ORPHA:243
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform... OMIM:249000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocar... ORPHA:32960
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoplasia of penis, Atrial septal defect, Hypospadias, Ventricular septal defect, ... ORPHA:373
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Papillary cystadenoma of the epididymis, Bicornuate uterus, Pol... ORPHA:93111
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morphology, Auto... ORPHA:77293
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte mor... ORPHA:565612
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Dysphagia, Shawl... ORPHA:2745
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... OMIM:263700
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi... ORPHA:50918
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Ventricular septal defect, Decreased ... OMIM:188400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va... OMIM:617088
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, El... OMIM:243800
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Aplasia of the sweat glands OMIM:612132
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic labia majora, Hypoplasia of the uterus OMIM:618419
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Pr... OMIM:270400
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo... ORPHA:273
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Bicornuate uterus... OMIM:269150
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus ORPHA:2470
Microsporidiosis
Prostatitis, Abnormal endometrium morphology, Anorexia, Abnormal fallopian tube morphology ORPHA:2552
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Bicornuate uterus, Hypog... ORPHA:84
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Hypospadias, Aggressive behavior, Cryptorchidism, Polyphagia, Self-... ORPHA:96121
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Fryns Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum OMIM:229850
Norrie Disease
Cryptorchidism, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:649
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... ORPHA:2232
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Ulnar-Mammary Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the uterus ORPHA:3138
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Cryptorchidism, Bruxism, Stereotypical body rocking, Low frustration tolerance, Dysp... OMIM:619503
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Ulnar-Mammary Syndrome
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen OMIM:181450
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Okamoto Syndrome
Bifid uterus ORPHA:2729
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Attention deficit hyperactivity disorder OMIM:614083
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353281
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias OMIM:265380
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus, Dysphagia ORPHA:2363
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
22Q11.2 Deletion Syndrome
Hypospadias, Cryptorchidism, Depression, Abnormality of the uterus, Attention deficit hyperactivi... ORPHA:567
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the uterus, Enlarged polycystic ... ORPHA:201
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia ORPHA:93271
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353277
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labi... OMIM:261540
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Peters Plus Syndrome
Hypoplasia of the uterus, Cryptorchidism, Clitoral hypoplasia, Hypospadias ORPHA:709
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Clitoral hyper... OMIM:268300
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut... ORPHA:199
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Dysphagia, Uterine prolapse, Stereotypical hand wringing ORPHA:438213
Coffin-Siris Syndrome 1
Hypospadias, Aggressive behavior, Cryptorchidism, Aplasia of the uterus, Compulsive behaviors, Cl... OMIM:135900
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Abnormal repetitive manne... OMIM:194190
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... OMIM:601803

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 Rpe

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 Rpe.

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

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MGI Allele Allele Type Produced
Rpeem1(IMPC)Mbp Exon Deletion Mice, Tissue
Rpetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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