Gene Summary

Name:
CDK5 regulatory subunit associated protein 3
Synonyms:
HSF-27,  C53,  OK/SW-cl.114,  1810007E24Rik,  IC53,  MST016

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
cataract Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 1.93×10-05
abnormal retina vasculature morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.19×10-10
abnormal retina blood vessel morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.52×10-09
abnormal retina morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 5.36×10-09
abnormal vitreous body morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 3.67×10-08
increased fasting circulating glucose level Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 2.30×10-05
decreased exploration in new environment Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.83×10-06
persistence of hyaloid vascular system Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 6.36×10-06
decreased cardiac stroke volume Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 5.29×10-06
abnormal lens morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 1.66×10-05
preweaning lethality, complete penetrance Cdk5rap3tm1b(EUCOMM)Hmgu HOM   Early adult 3.20×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

44 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Cdk5rap3 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 Cdk5rap3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Hyperte... OMIM:189800
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly OMIM:312500
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... OMIM:619662
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration OMIM:300752
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,... OMIM:615631
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Memory impairment, Cataract OMIM:620312
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha... OMIM:613310
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Congestive heart failure OMIM:209300
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati... ORPHA:480520
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... OMIM:613759
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr... OMIM:607616
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Hemorrhage of the eye, Trac... ORPHA:91495
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatom... OMIM:620010
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Depression, Cognitive impairment, Dementia ORPHA:329314
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... OMIM:619868
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degener... OMIM:520000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Hyphem... OMIM:221900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Glycogen Storage Disease Vi
Hepatomegaly, Postnatal growth retardation, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatom... ORPHA:858
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... OMIM:224120
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Cirrhosis, ... OMIM:604250
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Senior-Loken Syndrome
Cataract, Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... ORPHA:75564
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Increased circulating lactate dehydrogenase concentration, Pers... OMIM:613673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Hepatic failure, Elevated circul... ORPHA:398124
Trichomegaly
Cataract OMIM:190330
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Elevated circulating alk... ORPHA:521219
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Normochromic microcytic anemia, Postnatal growt... OMIM:610198
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatos... OMIM:610333
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Growth delay, Splenomegaly ORPHA:100025
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast... OMIM:613561
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, P... OMIM:267010
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Growth delay, Increased circulating lactate dehydrogenase... OMIM:614034
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:562639
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Hemochromatosis, Type 4
Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cirrhosis, Anemia OMIM:606069
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Bardet-Biedl Syndrome 9
Cataract, Hyperglycemia, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration,... OMIM:615986
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Spl... OMIM:611881
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii
Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... ORPHA:98870
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Depression, Rod-cone dystrophy OMIM:614307
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Splenomegaly, Hepatomegaly, Cirrhosis, Intrahepatic cholestasis with e... OMIM:211600
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Reduced erythrocyte 2,... OMIM:232800
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... ORPHA:64743
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Mu-Heavy Chain Disease
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly ORPHA:100024
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... OMIM:301068
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Anemia, Thrombocytopenia ORPHA:295
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ... OMIM:619902
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret... OMIM:106210
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane... ORPHA:67044
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Increa... ORPHA:232
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... OMIM:616829
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Hepatic fibrosis, Growth d... ORPHA:731
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:618329
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... ORPHA:3203
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Transaldolase Deficiency
Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia ORPHA:101028
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy ORPHA:250984
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal ... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Intrauterine growth retardation, Neonatal death, Anemia OMIM:618839
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation OMIM:603194
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Growth delay ORPHA:75233
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ... OMIM:613490
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatome... OMIM:612840
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... ORPHA:288
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepato... OMIM:232400
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomegaly, Reduced hepa... OMIM:306000
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment, Cognitive impairment ORPHA:3437
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro... ORPHA:53035
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Growth delay, Decreased liver function, ... OMIM:613658
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,... OMIM:618549
Rh Deficiency Syndrome
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, In... ORPHA:71275
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Attention deficit hyperact... OMIM:152950
Flynn-Aird Syndrome
Dementia, Cataract, Rod-cone dystrophy OMIM:136300
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation OMIM:611134
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Pigmentary retinopathy, Memory impairment, Depression, Cataract, Hematochez... ORPHA:79095
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Growth delay OMIM:611490
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia ORPHA:37748
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v... OMIM:615184
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay ORPHA:289916
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Short stature, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insuf... OMIM:618752
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Cataract ORPHA:3173
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly, Vasculitis in the skin OMIM:620296
Congenital Rubella Syndrome
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, ... ORPHA:290
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Relapsing Fever
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul... ORPHA:91547
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Cataract OMIM:619780
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Preeclampsia
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he... ORPHA:275555
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Growth delay, Hepatosplenomegaly, Pancytopen... ORPHA:77259
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Reticulocytopenia, D... ORPHA:300298
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia ORPHA:309108
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypopituitarism, Hepa... OMIM:619013
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Increased circulating lactate dehydrogenase c... ORPHA:158057
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Myh9-Related Disease
Elevated circulating hepatic transaminase concentration, Giant platelets, Spontaneous, recurrent ... ORPHA:182050
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... OMIM:147480
Linear Verrucous Nevus Syndrome
Mental deterioration, Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of th... ORPHA:2611
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Elevated total serum tryptase, Decreased liver function... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Cholestasis, Intrauterine growth retardation, Cryptorchidism, Neonatal ... OMIM:608104
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Thrombocytopenia ORPHA:2123
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Anemia, Hypertension ORPHA:69077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal testis morphology... ORPHA:54251
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Retinal degeneration, Arrhythmia, Rod-cone dy... OMIM:266500
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Memory impairment, Depression, Gastrointestinal hemorrhage, Cardiomyopathy, Puncta... ORPHA:247691
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Elevated circulating hepatic transaminase concentration, Portal hypertension, Spo... OMIM:615506
Achondrogenesis Type 2
Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:93296
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... ORPHA:158061
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Diamond-Blackfan Anemia 9
Anemia, Growth delay OMIM:613308
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly... OMIM:230800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Persistent fetal ci... OMIM:618775
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Dilated cardiomyopathy, Cataract ORPHA:272
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ... ORPHA:1345
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy, Hypoglycemia ORPHA:67048
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Jaundice, Pancreatic fibrosis, Short stature, Pulmonary insufficiency, Polycyst... OMIM:208500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Conge... OMIM:619111
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Intrauterine growth retardation, Autoimmune hemolytic anemia, Hypo... ORPHA:436252
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation ORPHA:3085
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia OMIM:614742
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Formiminoglutamic Aciduria
Anemia, Abnormal circulating enzyme concentration or activity, Megaloblastic anemia ORPHA:51208
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul... OMIM:600649
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Interstitial Lung And Liver Disease
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevate... OMIM:615486
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho... OMIM:615512
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Giant cel... OMIM:214950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Glycosuria, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:268315
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hepatomegaly, Cerebellar hemo... OMIM:606054
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Severe postnatal growth r... ORPHA:440713
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Elevated circulating hepatic transaminase concen... ORPHA:264580
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j... OMIM:170100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Cranioectodermal Dysplasia 2
Rhizomelia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613610
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Sy... OMIM:619991
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Stickler Syndrome, Type Iv
Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Degenerativ... OMIM:614134
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cystic Echinococcosis
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated... ORPHA:400
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Infantile Refsum Disease
Optic atrophy, Cataract, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy ORPHA:772
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c... ORPHA:231214
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Srd5A3-Cdg
Optic atrophy, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy ORPHA:324737
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Seve... OMIM:620609
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop... ORPHA:156
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Anemia, Cryptorchidism OMIM:620135
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Subara... OMIM:185070
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae, Cognitive impairment, Hypertension ORPHA:1885
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A... ORPHA:292
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Budd-Chiari syndrome, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, A... OMIM:226300
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Depression, Confusion, Corneal opacity, Optic disc pallor ORPHA:309288
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu... OMIM:609033
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha... ORPHA:209959
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Hepatic failure, Elevated circulating ... ORPHA:100075
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leukocytosis, Sple... ORPHA:457077
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:615895
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Growth delay OMIM:607115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Optic neurop... OMIM:105120
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Atrioventricular block,... OMIM:212138
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:367
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Muscle-Eye-Brain Disease
Optic atrophy, Cognitive impairment, Cataract ORPHA:588
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepatic steatosis, Growt... ORPHA:71
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Anemia, Congenital Dyserythropoietic, Type Iiia
Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat... OMIM:105600
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thromboc... ORPHA:100026
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat... ORPHA:1667
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu... ORPHA:99901
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... OMIM:619534
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Leukocytosis, ... ORPHA:67
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... ORPHA:83617
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent... ORPHA:2137
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Bilateral crypto... ORPHA:66634
Atelis Syndrome 2
Hyperinsulinemia, Attention deficit hyperactivity disorder, Vitreous hemorrhage, Developmental ca... OMIM:620185
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Testicular neoplasm, Abnormal peritoneum morphology, Anemia, Ovarian neoplasm, Neop... ORPHA:83469
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy, Rod-cone dystrophy OMIM:614879
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Cadds
Cholestasis, Cholangitis, Intrauterine growth retardation, Elevated circulating hepatic transamin... ORPHA:369942
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... OMIM:260400
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:3166
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Reduced number of intrahepatic bile ducts, Intraventricular hemo... ORPHA:79284
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Postnatal growth retar... ORPHA:79240
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Growth delay, Ele... OMIM:614921
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Refractory Celiac Disease
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ab... ORPHA:398063
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Lathosterolosis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Elevated ci... OMIM:607330
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Cardiomyopathy, Diabetes mellitus OMIM:222300
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517