banner
Genes Phenotypes Help, News, Blog

Gene: Dnmbp MGI:1917352

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
persistence of hyaloid vascular system Dnmbpem1(IMPC)Mbp HOM Late adult 1.19×10-10
decreased startle reflex Dnmbpem1(IMPC)Mbp HOM   Early adult 9.32×10-05
small heart Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
small kidney Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal retina blood vessel morphology Dnmbpem1(IMPC)Mbp HOM Late adult 5.58×10-21
abnormal retina vasculature morphology Dnmbpem1(IMPC)Mbp HOM Late adult 6.04×10-21
abnormal optic disk morphology Dnmbpem1(IMPC)Mbp HOM Late adult 3.07×10-14
abnormal spleen morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
increased prepulse inhibition Dnmbpem1(IMPC)Mbp HOM   Early adult 2.18×10-06
abnormal skin morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
abnormal auditory brainstem response Dnmbpem1(IMPC)Mbp HOM   Early adult 1.83×10-06
abnormal heart morphology Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
absent seminal vesicle Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Dnmbpem1(IMPC)Mbp HOM Late adult 0.00
increased vertical activity Dnmbpem1(IMPC)Mbp HOM Early adult 2.70×10-06

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

41 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images
Histopathology

Images

4 Images

View 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
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
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Ventricular septal defect, Optic disc pallor, Cryptorchidism, Cysti... OMIM:613730
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Atrial septal defect, Cardiomyopathy, Ventricular septal d... OMIM:249270
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
3-Methylglutaconic Aciduria, Type V
Optic atrophy, 3-Methylglutaconic aciduria, Atrial septal defect, Hypospadias, Microvesicular hep... OMIM:610198
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Vacuolated lymphocytes, Macular degenerati... OMIM:204200
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in u... ORPHA:26792
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:79312
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg... OMIM:607616
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Retinal degeneration, Splenomegaly, Chronic kidney d... OMIM:615630
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Abnormal cranial ... OMIM:601596
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog... OMIM:602390
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Stt3B-Cdg
Optic atrophy, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Premature pubarche, Sensory axonal neuropathy... ORPHA:457205
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Congenital Hydrocephalus
Optic atrophy, Abnormal heart morphology, Macular hypoplasia, Iris coloboma ORPHA:2185
Sarcosinemia
Optic atrophy, Hypersarcosinuria, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia,... ORPHA:27
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Retinopathy,... OMIM:603903
Diencephalic Syndrome
Optic atrophy, Long penis ORPHA:1672
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Biventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:618236
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati... OMIM:216360
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Hypertrophic cardiomyopathy, Optic disc pallor OMIM:612989
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Orthostatic hypotension, Sensorineural hearing impairment, Dysdiadochokinesis, Trem... ORPHA:99027
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Abnormal heart valve morphology, Abnormality of... ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Abnormal optic ... OMIM:617516
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ... OMIM:249660
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Megaloblastic anemia, Abnormal autonomic nervous system physiology, S... OMIM:598500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypo... ORPHA:254913
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Splenomega... ORPHA:290
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural... ORPHA:101085
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Macular edema, Normochromic anemia, Glomerular sclerosis, Retinal cotton wool ... ORPHA:247691
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy, Megaloblastic anemia, Thrombocytopenia, Atrial septal defect, V... ORPHA:49827
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Abnormal leukocyte morphology, Retrobulbar optic neuritis ORPHA:3151
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Cardiomyopathy, Sideroblast... OMIM:222300
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Thrombocytopenia, R... ORPHA:289916
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy OMIM:105200
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina... OMIM:120200
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Vaginal hernia, Optic disc pallor ORPHA:3173
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614576
Woods Syndrome
Optic atrophy, Ventricular septal defect, Supernumerary nipple OMIM:615236
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr... OMIM:606003
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Elevated circulating hepati... ORPHA:324737
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,... OMIM:616959
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Cardiomyopathy, Facial palsy, Rod-cone dystrophy ORPHA:772
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Peripheral axonal neuropathy,... ORPHA:496790
Aicardi-Goutieres Syndrome 9
Optic atrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Glo... OMIM:619487
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,... ORPHA:158029
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Decreased liver function, Cardiomyopathy, Prolonged neonatal jaundice, Optic disc ... OMIM:618437
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Optic disc pallor OMIM:619260
8P11.2 Deletion Syndrome
Retinal dystrophy, Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, M... ORPHA:251066
Trisomy 13
Optic atrophy, Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Displacement... ORPHA:3378
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Bardet-Biedl Syndrome 20
Atrial septal defect, Pancreatitis, Elevated circulating hepatic transaminase concentration, Bila... OMIM:619471
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Hypospadias, Vesicoureteral reflux, Ventricular septal defect, Abnormal heart morp... ORPHA:494344
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Hypospadias OMIM:618688
Dilated Cardiomyopathy With Ataxia
Optic atrophy, 3-Methylglutaconic aciduria, Muscular ventricular septal defect, Hypochromic micro... ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Thrombocytopenia, A... ORPHA:448237
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism, Supernumerary nipple, Hypogonad... ORPHA:1173
Zellweger Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Clitoral hypertrophy, Jaundice, Hepatomegaly, H... ORPHA:912
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Cherry... ORPHA:93399
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Decreased liver function, Hepatomegaly, Anemia, Renal tubular dysfunction, Hypertr... ORPHA:436271
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
3C Syndrome
Optic atrophy, Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, H... ORPHA:7
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg... OMIM:617303
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Macular atrophy, Thrombocytopenia, Spl... OMIM:230800
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A... ORPHA:206448
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Optic disc pallor, Attenuation of ... OMIM:612095
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase conce... OMIM:261680
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici... ORPHA:1454
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Lacticaciduria, Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiom... OMIM:619167
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Optic disc pallor, Exaggerated startle response OMIM:609541
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Rod-cone dys... OMIM:601539
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Distal Deletion 13Q
Optic atrophy, Ambiguous genitalia, Abnormal cardiac septum morphology, Iris coloboma ORPHA:1590
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Nephropathy ORPHA:575
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine... ORPHA:892
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Dermatan sulfate excretion in urine, Papilledema, ... OMIM:309900
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Ascites, Abnormal heart morpholo... ORPHA:93400
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Pagod Syndrome
Optic atrophy, Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, ... ORPHA:991
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside lev... OMIM:608688
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia... OMIM:614866
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Mucopolysacchariduria, Abnormality of retinal pigmentation, Splenome... ORPHA:585
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Hyper... OMIM:220110
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration, Hypertrophic cardiomyopathy OMIM:616896
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Optic disc pallor, Exaggerated startle response ORPHA:320406
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Absent brainstem auditory responses, Th... ORPHA:79330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ventricular septal... ORPHA:1655
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Resting tremo... ORPHA:909
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613581
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Abnormal testis morphology, Abnormality o... ORPHA:791
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Inability to walk, Exaggerated startle response OMIM:620114
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... OMIM:610377
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Cryptorchidism, Rod-cone dystrophy, Pigmenta... OMIM:300578
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Papillede... OMIM:618775
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Anemia, Pancytopenia, Cranial nerve compression, Thrombocytopenia, Hepatosplenomeg... OMIM:259710
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Chops Syndrome
Optic atrophy, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Anomalous ... OMIM:616368
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C... OMIM:619259
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Situs inversus totalis, Ureteral duplication, M... ORPHA:564
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Tremor, Absent brainstem auditory responses, Gait disturbance,... ORPHA:90321
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased testicular size,... ORPHA:293967
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Hydronephrosis, Sp... OMIM:235255
Micro Syndrome
Optic atrophy, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Retinal colobo... ORPHA:2510
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Cho... ORPHA:899
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, 3-Methylglutaconic aciduria, Decreased liver function, Chorioretinal hyperpigmenta... OMIM:618329
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Macrotia, EEG with gener... OMIM:617864
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Neurogenic bladder OMIM:618248
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Retin... OMIM:614863
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Papill... ORPHA:2905
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Abnormal optic nerve morphology, Optic ne... ORPHA:98977
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Papilledema, Anemia, Hyperparathyroidism OMIM:620366
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Facial palsy, Thrombocytopenia, Splenomegaly, ... OMIM:259700
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Stage 5 chronic kidney diseas... OMIM:268315
Alpha-Mannosidosis, Adult Form
Oligosacchariduria, Hepatosplenomegaly, Optic disc pallor, Pancytopenia ORPHA:309288
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Optic nerve... ORPHA:508498
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Premature thelarche, Papilledema, Nodular goiter, Mitral valve prolapse, Bi... ORPHA:371428
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia... OMIM:602782
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath... ORPHA:231214
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Urinary incontinence, Gallbladder dysfunction... OMIM:250100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Aniridia 2
Optic atrophy, Aniridia, Iris coloboma OMIM:617141
Primary Hyperoxaluria
Optic atrophy, Hematuria, Aciduria, Choroidal neovascularization, Calcium oxalate nephrolithiasis... ORPHA:416
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephro... ORPHA:505248
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clito... OMIM:147791
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans... ORPHA:781
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response, Macrotia, EEG abnormality OMIM:617281
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney dysplas... ORPHA:3301
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Hematuria, Chronic kidney disease, Aplasia of the vagina, Aplasia of the uter... OMIM:146255
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st... OMIM:612541
Arima Syndrome
Optic atrophy, Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Retinal dy... OMIM:243910
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Hepatomegaly, Hydroureter, Unilateral renal agenesis,... ORPHA:90324
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Lymphangioleiomyomatosis
Optic atrophy, Retinal hamartoma, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of th... ORPHA:538
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormal pinna morphology, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hypsarrhythmia, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia, EE... OMIM:620423
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Tay-Sachs Disease
Optic atrophy, Inability to walk, Tremor, Exaggerated startle response, Gait disturbance, Hearing... ORPHA:845
Mucopolysaccharidosis Type 2
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Abnormal tricuspid valve morpho... ORPHA:580
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Atelis Syndrome 2
Anemia, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Pulmonic stenosi... OMIM:620185
Congenital Syphilis
Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Chorioretinitis, Nephrotic syn... ORPHA:499009
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Wolfram Syndrome
Optic atrophy, Anemia, Dysuria, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... ORPHA:3463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c... OMIM:615688
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... ORPHA:71505
Biotinidase Deficiency
Optic atrophy, Hepatomegaly, Organic aciduria, Splenomegaly OMIM:253260
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morphology, Abnormal... ORPHA:217085
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, Leukocytosis, ... OMIM:619321
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Brucellosis
Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormality of the peripheral ... ORPHA:1304
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morphology, Abnormal... ORPHA:217093
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal cranial nerve morphology, F... ORPHA:90340
Microphthalmia, Syndromic 2
Hypospadias, Dextrocardia, Retinal detachment, Ventricular septal defect, Remnants of the hyaloid... OMIM:300166
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Phace Association
Optic atrophy, Optic nerve hypoplasia, Increased retinal vascularity, Ventricular septal defect, ... OMIM:606519
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Gaucher Disease
Retinopathy, Leukopenia, Splenomegaly, Pancytopenia, Splenic infarction, Splenic rupture, Choleli... ORPHA:355
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Renal tubular acidosis, Abnormal retinal morph... ORPHA:2785
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom... OMIM:617913
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Low-set ears, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Dysphagia, Exaggerated startle response OMIM:617301
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Hyperoxaluria, Primary, Type I
Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Hyperoxa... OMIM:259900
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Ma... ORPHA:509
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr... OMIM:269700
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity, Aggressive behavior ORPHA:401973
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Splenomegaly OMIM:612301
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gaucher Disease Type 3
Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Sandhoff Disease
Ataxia, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Camurati-Engelmann Disease
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Facial palsy, Hypertrophic cardiomy... ORPHA:1328
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton... OMIM:249100
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr... OMIM:608594
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Peripheral schwannoma, Facial palsy, Abnormal optic nerve morphology, Remnants... ORPHA:637
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis OMIM:238600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Hypospadias, Retinal dystrophy, Elevated circulating hepatic transaminase c... ORPHA:397715
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis OMIM:615947
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Splenomegaly OMIM:615636
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, External genital hypoplasia, Jaundice, Elevated circulating hepatic transaminase c... OMIM:614231
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... OMIM:615574
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Ventricular septal defect, Enuresis, Abnormal optic disc ... ORPHA:96121
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Phimosis, De... OMIM:305000
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal dege... OMIM:613843
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aortic valve calcifica... ORPHA:2072
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal... ORPHA:116
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dysphagia OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal optic disc morphology ORPHA:363417
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Norrie Disease
Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold OMIM:310600
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Gm1 Gangliosidosis Type 1
Hearing impairment, Macrotia, Low-set ears, Exaggerated startle response ORPHA:79255
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Single ventricle, Remnants of the hyaloid vascular system,... OMIM:157170
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Decreased glomerular fi... ORPHA:91500
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic... OMIM:243800
Alström Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Dysphagia, Exaggerated startle response OMIM:618367
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papilledema, Macul... ORPHA:79098
Neuroocular Syndrome
Patent foramen ovale, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Lens colo... OMIM:619539
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wringing, D... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dy... OMIM:619522
Cataract 48
OMIM:618415

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term hypertrophy Dnmbpem1(IMPC)Mbp HOM Late adult
Eye - MPATH pathological entity term hypertrophic tissue Dnmbpem1(IMPC)Mbp HOM Late adult
Eye - MPATH pathological process term extracellular matrix deposition Dnmbpem1(IMPC)Mbp HOM Early adult
Eye - MPATH pathological process term hypertrophy Dnmbpem1(IMPC)Mbp HOM Early adult
Uterus - MPATH pathological process term extracellular matrix deposition Dnmbpem1(IMPC)Mbp HOM Early adult
Ear - MPATH pathological process term inflammation Dnmbpem1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnmbp.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dnmbptm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnmbptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnmbpem1(IMPC)Mbp Exon Deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter