Gene Summary

Name:
dynamin binding protein
Synonyms:
Tuba,  2410003M15Rik,  2410003L07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal retinal blood vessel morphology Dnmbpem1(IMPC)Mbp HOM Late adult 1.30×10-20
abnormal retinal vasculature morphology Dnmbpem1(IMPC)Mbp HOM Late adult 1.30×10-20
small heart Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal optic disk morphology Dnmbpem1(IMPC)Mbp HOM Late adult 5.31×10-14
increased prepulse inhibition Dnmbpem1(IMPC)Mbp HOM   Early adult 6.74×10-07
increased vertical activity Dnmbpem1(IMPC)Mbp HOM Early adult 4.00×10-06
enlarged spleen Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal auditory brainstem response Dnmbpem1(IMPC)Mbp HOM   Early adult 2.67×10-06
absent seminal vesicle Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
persistence of hyaloid vascular system Dnmbpem1(IMPC)Mbp HOM Late adult 6.05×10-11
abnormal skin morphology Dnmbpem1(IMPC)Mbp HOM 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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

37 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Dnmbp 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.

The table below shows human diseases associated to Dnmbp by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 48
OMIM:618415

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy, Vacuolated lymphocytes OMIM:609055
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 5
Optic atrophy OMIM:610708
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in urine, Optic atrophy, Increased level of ribitol in urine, Decre... OMIM:608611
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Periventricular Nodular Heterotopia 7
Optic atrophy, Cryptorchidism OMIM:617201
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
3-Methylglutaconic Aciduria, Type V
Hypospadias, Optic atrophy, Dilated cardiomyopathy, Microvesicular hepatic steatosis, Noncompacti... OMIM:610198
Hyperlipoproteinemia, Type Id
Hepatomegaly, Lipemia retinalis, Splenomegaly OMIM:615947
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Optic disc pallor, Cone dystrophy OMIM:268040
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Decreased liver function, Micropenis, Thrombocytopenia, Cryptorchidism OMIM:615597
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Splenomegaly OMIM:602271
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Retinal degeneration, Aminoaciduria, Situs inversus tot... OMIM:249270
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Camos Syndrome
Optic atrophy, Renal insufficiency, Nephrotic syndrome ORPHA:83472
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly OMIM:300884
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor, Drusen OMIM:618632
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy... OMIM:204200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypogonadism, Cirrhosis, El... OMIM:613313
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Thrombocytopenia OMIM:615085
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hepatomegaly, Rod-cone dystrophy, Diffuse hepatic steatosis, Pigmentary retinopath... OMIM:264470
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Optic atrophy, Cardiomyopathy, Hepatic steatosis, Increased level of methy... ORPHA:26792
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Optic disc pallor, Anemia, Facial palsy, Splenomegaly, Hepatosplenom... OMIM:611490
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Papilledema, Renal insufficiency, Ascites OMIM:240150
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration, Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly ORPHA:796
Retinal Venous Beading
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Abno... OMIM:180080
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal macular morphology, Sea-blue histioc... OMIM:607616
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy OMIM:616171
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Splenomegaly, Thr... ORPHA:79312
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Filippi Syndrome
Ventricular septal defect, Optic atrophy, Cryptorchidism, Ambiguous genitalia OMIM:272440
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegal... OMIM:614866
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Azoospermia, Hypogonadotropic hypogonadism, Cardiomyopathy,... OMIM:602390
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism, Abnormal retinal vascular morph... ORPHA:791
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Retinal degeneration, Hepatic fibrosis, Nephronophthisis... OMIM:615630
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... ORPHA:457205
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Optic Atrophy 6
Optic atrophy OMIM:258500
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... OMIM:311070
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy, Uraciluria OMIM:274270
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Retinal arte... OMIM:249660
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Micropenis, Cryptorchidism, Decreased t... OMIM:615663
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency OMIM:619425
Optic Atrophy 9
Optic atrophy OMIM:616289
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618229
Merrf
Optic atrophy ORPHA:551
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93476
Congenital Hydrocephalus
Abnormal heart morphology, Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Diencephalic Syndrome
Optic atrophy, Long penis ORPHA:1672
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Neuraminidase Deficiency
Hepatomegaly, Cherry red spot of the macula, Ascites, Vacuolated lymphocytes, Urinary excretion o... OMIM:256550
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, Optic neuritis OMIM:165200
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Optic atrophy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Pancreatitis,... ORPHA:27
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Retinopathy, I... OMIM:603903
Isolated Oxycephaly
Papilledema ORPHA:63440
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618228
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocy... OMIM:598500
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Hypersarcosinuria, Pulmonic stenosis ORPHA:3129
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Cryptorchidism OMIM:618766
Cednik Syndrome
Optic atrophy, Nephrotic syndrome, Hypogonadism, Abnormality of peripheral nerve conduction, Prot... ORPHA:66631
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Hematuria, Iris coloboma, Retinal detachment ORPHA:1473
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria OMIM:258501
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Hepatic fibrosis, Elevated hepatic transaminase, Nephronophthisi... OMIM:216360
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Abnormality of the optic nerve, Macular dystrophy, Optic atrophy ORPHA:33445
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Wolfram Syndrome 1
Testicular atrophy, Optic atrophy, Hydronephrosis, Megaloblastic anemia, Cardiomyopathy, Siderobl... OMIM:222300
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Stt3B-Cdg
Optic atrophy, Small scrotum, Micropenis, Thrombocytopenia, Cryptorchidism ORPHA:370924
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Abnormality of retinal pigmentation, Anemia, Splenomegal... ORPHA:290
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Ascites, Hypogonadotropi... OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:612989
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Sea-blue histiocytosis OMIM:230600
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Retinal dystrophy, Megaloblastic anemia, Atrial septal ... ORPHA:49827
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy, Abnormal leukocyte morphology ORPHA:3151
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Optic disc coloboma, Vesicoureteral reflux, Remnan... OMIM:120200
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Vaginal hernia ORPHA:3173
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618236
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular septal defect, Anemia, Pigmentary retinop... ORPHA:255241
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Thromb... ORPHA:289916
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Ataxia, Prolonged brai... ORPHA:206443
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Cardiomyopathy, Macular edema, Nodu... ORPHA:247691
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Woods Syndrome
Optic atrophy, Ventricular septal defect, Supernumerary nipple OMIM:615236
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613341
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Cofs Syndrome
Hypogonadism, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly, Nephropathy, Abnormal macular morphology ORPHA:87876
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Wolfram-Like Syndrome
Central diabetes insipidus, Optic atrophy, Peripheral axonal neuropathy, Male hypogonadism ORPHA:411590
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration OMIM:300438
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Ventricular septal defect, Hepatomegaly, Elevated hepatic transaminase, Proximal t... OMIM:614576
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Morning glory anomaly, Macular hyperpigmentation, Retinal col... OMIM:120330
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue ... ORPHA:158029
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Abnorma... ORPHA:370
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
8P11.2 Deletion Syndrome
Hemolytic anemia, Mitral valve prolapse, Azoospermia, Retinal dystrophy, Hypogonadotropic hypogon... ORPHA:251066
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Cardiomyopathy, Rod-cone dystrophy ORPHA:772
Srd5A3-Cdg
Optic atrophy, Elevated hepatic transaminase, Optic disc hypoplasia, Rod-cone dystrophy, Microcyt... ORPHA:324737
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Optic disc pallor, Ascites, Anemia, Decreased osteoclast count, Sple... OMIM:259720
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Aica-Ribosuria Due To Atic Deficiency
Clitoral hypertrophy, Optic atrophy, Atrial septal defect, Fused labia minora OMIM:608688
Distal Monosomy 17Q
Optic atrophy, Hepatomegaly, Abnormal cardiac septum morphology ORPHA:1597
Bardet-Biedl Syndrome 20
Pancreatitis, Rod-cone dystrophy, Papilledema, Micropenis, Bilateral cryptorchidism, Male hypogon... OMIM:619471
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Pigmentary retinopathy, Left ... OMIM:252011
Aicardi-Goutieres Syndrome 9
Portal hypertension, Optic atrophy, Hemolytic anemia, Hepatomegaly, Pericarditis, Pericardial eff... OMIM:619487
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Stankiewicz-Isidor Syndrome
Hypospadias, Pineal cyst, Ventricular septal defect, Truncus arteriosus, Ureteral duplication, Ab... OMIM:617516
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy OMIM:614702
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Cach Syndrome
Optic atrophy, Renal hypoplasia, Pancreatitis, Optic neuritis, Hepatosplenomegaly, Premature ovar... ORPHA:135
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Abnormal heart morphology, Double outlet right ventricle, Pulmonic stenosis, Hypop... OMIM:618164
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Retinal d... OMIM:616651
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Optic atrophy, Renal Fanconi syndrome, Renal tubular dysfunction, Hy... OMIM:220110
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Optic atrophy, Microvesicular hepatic steatosis, Hypochromic microcytic a... ORPHA:66634
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Trisomy 13
Optic atrophy, Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Abnormal mor... ORPHA:3378
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Distal Monosomy 13Q
Optic atrophy, Ambiguous genitalia, Abnormal cardiac septum morphology, Iris coloboma ORPHA:1590
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Cardiomyopathy, Decreased liver function, Prolonged neonatal ja... OMIM:618437
Warburg Micro Syndrome 3
Hypoplastic labia minora, Optic atrophy, Micropenis, Decreased testicular size OMIM:614222
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Abnormal abdomen morphology OMIM:252650
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Hepatomegaly, Splenomegaly, Retinopathy, Elevated hepatic transaminase, Abnormal m... OMIM:608799
Renal Coloboma Syndrome
Renal hypoplasia, Retinal coloboma, Optic disc coloboma, Multicystic kidney dysplasia, Vesicouret... ORPHA:1475
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Urinary incontinence, 3-Methylglutaconic aciduria OMIM:617698
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Facial palsy, Cardiomyopathy, Sensory axonal neuropathy, Optic neuritis, Abnormal ... ORPHA:254886
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Renal Fanconi syndrome, Renal tubular dysfunction, Hy... ORPHA:436271
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Optic atrophy, Hepatomegaly ORPHA:79279
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Riboflavin Transporter Deficiency
Optic disc pallor, Abnormal cranial nerve morphology, Facial palsy, Hypogonadism, Abnormality of ... ORPHA:97229
Peroxisome Biogenesis Disorder 8B
Decreased liver function, Retinal dystrophy, Optic atrophy OMIM:614877
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias, Optic atrophy OMIM:618688
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia,... ORPHA:496790
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Abnormal heart morphology, Hepatosple... ORPHA:93399
Zellweger Syndrome
Hypospadias, Optic atrophy, Ventricular septal defect, Hydronephrosis, Hepatomegaly, Clitoral hyp... ORPHA:912
Xfe Progeroid Syndrome
Optic atrophy, Ascites, Elevated hepatic transaminase, Proteinuria, Renal insufficiency OMIM:610965
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Focal segmental glomerulosclerosis, Hepatomegaly, Neu... OMIM:617303
Beta-Thalassemia Intermedia
Leukocytosis, Hypoparathyroidism, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellul... ORPHA:231222
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral demyelination OMIM:618237
Gaucher Disease, Type I
Hepatomegaly, Macular atrophy, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopeni... OMIM:230800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
3C Syndrome
Hypospadias, Optic atrophy, Ventricular septal defect, Hydronephrosis, Chorioretinal coloboma, Ab... ORPHA:7
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Hypogonadism, ... ORPHA:1173
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Deafness-Lymphedema-Leukemia Syndrome
Abnormality of the optic nerve, Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone... ORPHA:3226
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Optic atrophy, Ventricular septal defect, Chorioretinal coloboma, Abnormal heart mor... ORPHA:494344
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... ORPHA:108
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Microcytic anemia, Neutropenia, Hepatomegaly OMIM:251900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Cryptorchidism OMIM:615419
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Distal Monosomy 7Q36
Optic atrophy, Cryptorchidism, Hypoplasia of penis ORPHA:1636
Pagod Syndrome
Optic atrophy, Abnormality of the spleen, Abnormal morphology of female internal genitalia, Situs... ORPHA:991
Optic Pathway Glioma
Optic atrophy, Papilledema, Precocious puberty, Neurofibromas ORPHA:2086
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Renal cyst, Rod-cone dystrophy, Cir... OMIM:601539
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Triosephosphate Isomerase Deficiency
Optic disc pallor, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic ... OMIM:615512
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial nerve compression, Anemia, Hepatosplenomegaly, Facial paralysis, Extramedu... OMIM:259710
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Ve... OMIM:614261
Chops Syndrome
Horseshoe kidney, Optic atrophy, Abnormal cardiac septum morphology, Vesicoureteral reflux, Crypt... OMIM:616368
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Chorioretinal coloboma, Intrahepatic biliary atresia, Congenital hepatic fibrosis, ... ORPHA:1454
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Lacticaciduria, Left ventricular hypertr... OMIM:619167
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Abnormal heart ... ORPHA:398124
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Decreased sensory nerve conduction velocity, Peripheral de... OMIM:609033
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Myocarditis, Pancreatic endocrine tumor,... ORPHA:892
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Urinary incontinence OMIM:270800
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia ORPHA:272
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... ORPHA:206448
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Urinary incontinence, 3-Methylglutaconic aciduria ORPHA:505216
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Meacham Syndrome
Horseshoe kidney, Abnormal vagina morphology, Ventricular septal defect, Conotruncal defect, Hypo... ORPHA:3097
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Myopathy With Extrapyramidal Signs
Optic atrophy, Ventricular septal defect, Leukocytosis, Hepatomegaly, Peripheral axonal neuropath... OMIM:615673
Cinca Syndrome
Leukocytosis, Hepatomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Anemia, Abnormality of n... ORPHA:1451
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Hypoplasia of the fovea, Cherry red spot of the macula, Ascites, Abn... ORPHA:93400
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Peripheral demyelination, Decreased ne... ORPHA:280234
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, Abnormal concentration of acylc... ORPHA:391428
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Optic atrophy, Cryptorchidism, Patent foramen ovale OMIM:613457
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Mucopolysacchariduria, Hepatomegaly, Splenome... ORPHA:585
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Nephrotic syndrome, Anemia, Splenomegaly, Nephropathy ORPHA:575
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Neurogenic bladder OMIM:618248
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Hepatomegaly, Decreased testicular size, Splenomegaly OMIM:201100
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Facial palsy, Organic aciduria OMIM:614707
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination, Splenomega... OMIM:205400
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Rod-cone dystrophy, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric se... OMIM:252930
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Cherry red spot of the macula, Splenomegaly OMIM:228000
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve condu... ORPHA:101085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatomegaly, Hepatic steatosis, Hepatic failure, Ketonuria OMIM:261680
Refsum Disease
Abnormality of retinal pigmentation, Cardiomyopathy, Splenomegaly, Retinopathy, Renal insufficiency ORPHA:773
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Norrie Disease
Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Micropenis, Ambiguous genitalia OMIM:614969
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Normochromic anemia... OMIM:618775
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... OMIM:616959
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Ascites, Spl... ORPHA:1655
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Optic disc pallor, Hydronephrosis, Atrial septal defect, Cryptorchidis... OMIM:618950
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity ORPHA:440727
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, An... ORPHA:77259
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy OMIM:617183
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Papilledema, Abnormal heart valv... OMIM:309900
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal h... OMIM:252920
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Mogs-Cdg
Optic atrophy, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Absent brainstem auditory... ORPHA:79330
Cohen Syndrome
Optic atrophy, Chorioretinal dystrophy, Mitral valve prolapse, Neutropenia, Leukopenia, Bull's ey... OMIM:216550
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Optic disc pallor, Retinal degeneration, Pigmentary retinopathy ORPHA:79264
Meckel Syndrome
Optic atrophy, Ureteral duplication, True hermaphroditism, Pancreatic cysts, Asplenia, Cystic liv... ORPHA:564
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Optic atrophy ORPHA:401866
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy, 3-Methylglutacon... OMIM:619259
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hypogonadotropic ... ORPHA:465508
Dpm1-Cdg
Optic atrophy, Hepatomegaly, Hepatic fibrosis, External genital hypoplasia, Hepatic steatosis, He... ORPHA:79322
Niemann-Pick Disease, Type A
Hepatomegaly, Cherry red spot of the macula, Ascites, Lymphadenopathy, Bone-marrow foam cells, Sp... OMIM:257200
Triple A Syndrome
Iris coloboma, Optic atrophy, Motor axonal neuropathy, Anterior hypopituitarism ORPHA:869
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Renal tubular acidosis, Polycysti... ORPHA:264580
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Premature ovarian insufficiency OMIM:603896
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Splenomegaly, Pulmonic stenosis ORPHA:2414
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Ascites, Spl... OMIM:235255
Krabbe Disease
Optic atrophy, Autoimmune thrombocytopenia, Peripheral demyelination, Decreased nerve conduction ... OMIM:245200
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... ORPHA:829
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Optic disc pallor, Normocytic hypoplastic anemia, Lymphad... OMIM:610377
Carpenter Syndrome 1
Optic atrophy, Ventricular septal defect, Hydronephrosis, Polysplenia, External genital hypoplasi... OMIM:201000
Schindler Disease, Type I
Optic atrophy, Increased urinary O-linked sialopeptides OMIM:609241
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia OMIM:619260
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Prolo... OMIM:301068