Gene Summary

Name:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 11
Synonyms:
xCT,  xc System xc 9930009M05Rik,  sut

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
abnormal vitreous body morphology Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 2.18×10-06
increased circulating glucose level Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 3.13×10-05
abnormal auditory brainstem response Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 7.80×10-05
abnormal optic disk morphology Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 8.84×10-05

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Slc7a11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc7a11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Athrombia, Essential
Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding ... OMIM:209050
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:608404
Glanzmann Thrombasthenia 2
Epistaxis, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephri... OMIM:619267
Wolfram-Like Syndrome, Autosomal Dominant
Diabetes mellitus, Glucose intolerance, Impaired glucose tolerance, Optic atrophy, Hearing impair... OMIM:614296
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Giant platel... OMIM:231200
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Abnormal bleeding, Prolonged ble... OMIM:600208
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Prolonged bleeding time... OMIM:605249
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Hemolytic anemia, Prolonged bleeding time, Reti... OMIM:314050
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Abnormal bleed... OMIM:155100
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Optic Atrophy 2
Optic atrophy OMIM:311050
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Optic Atrophy 5
Optic atrophy OMIM:610708
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Albinism, Ocular albinism, Abnormal bleeding, Prolonged ble... OMIM:614074
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy, Hearing impairment OMIM:617087
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet granules, Neutropenia,... ORPHA:238459
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Fechtner syndrome
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Abnormal bleed... OMIM:153640
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, EEG abnormality, Optic atrophy, Hearing impairment ORPHA:2732
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense gr... OMIM:601399
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Irr... OMIM:601382
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Ecchymosis, Absence of alpha gra... OMIM:187900
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, EEG abnormality, Optic atrophy OMIM:614706
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Aganglionic megacolon, Heari... OMIM:600501
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pig... OMIM:607921
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Ecchymosis, Hypopigmentation ... OMIM:614075
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Liberfarb Syndrome
Retinal degeneration, Sensorineural hearing impairment, Retinal pigment epithelial mottling, Opti... OMIM:618889
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombo... ORPHA:231393
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Hearing impairment ORPHA:1186
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Giant platelets, Spontaneous, recurrent epistaxis, Prolonge... ORPHA:182050
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorineural hearing ... OMIM:124950
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... OMIM:193400
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Bruising susceptibility, Impaired platelet aggregation, Hypopigmentatio... OMIM:614072
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Maturity-onset diabetes of the young, Optic disc pallor OMIM:268040
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Hearing impairment OMIM:617717
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Optic disc pallor, Drusen OMIM:618632
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Hermansky-Pudlak Syndrome 1
Hematochezia, Hypopigmentation of hair, Bruising susceptibility, Ecchymosis, Albinism, Hypopigmen... OMIM:203300
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Sensorineural hearing impairment, Pigmentary retinopathy, Type II diabetes ... OMIM:520000
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, EEG abnormality, Optic atrophy, Pigmentary retinopathy OMIM:610951
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:173590
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Hearing impairment OMIM:309555
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, EEG with occipital epileptiform disc... OMIM:619323
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment OMIM:614504
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... OMIM:311070
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia OMIM:617830
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Merrf
Sensorineural hearing impairment, Optic atrophy ORPHA:551
Periventricular Nodular Heterotopia 7
Optic atrophy, Hearing impairment OMIM:617201
Optic Atrophy 9
Optic atrophy OMIM:616289
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy, Hypsarrhythmia OMIM:618776
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Prolonge... ORPHA:3318
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time ORPHA:638
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Leber Congenital Amaurosis 9
Macular coloboma, Optic disc pallor, Optic atrophy, Attenuation of retinal blood vessels OMIM:608553
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Peripheral axonal neuropathy, Ab... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Sp... ORPHA:3226
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Camos Syndrome
Optic atrophy ORPHA:83472
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, EEG with burst suppression OMIM:619303
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Low-set ears, Hypsarrhythmia OMIM:300884
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia OMIM:300928
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy, Hearing impairment ORPHA:178377
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Congenital sensorineural hearing impairment, Diabetes mellitus, Abn... ORPHA:411590
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Hermansky-Pudlak Syndrome 2
Fair hair, Aberrant melanosome maturation, Impaired ADP-induced platelet aggregation, Hepatosplen... OMIM:608233
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy ORPHA:468661
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Hypsarrhythmia OMIM:617086
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Hermansky-Pudlak Syndrome 11
Fair hair, Bruising susceptibility, Menorrhagia, Albinism, Gingival bleeding, Iris transilluminat... OMIM:619172
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Nescav Syndrome
Peripheral axonal neuropathy, Optic atrophy OMIM:614255
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Hemimegalencephaly
EEG with focal sharp slow waves, Optic atrophy, Hemihypsarrhythmia, Interictal EEG abnormality, E... ORPHA:99802
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy ORPHA:1513
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Retinal detachment, Optic disc pallor, Abnormality of macular pigmentation,... OMIM:300476
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, EEG abnormality, Retinal degeneration, Optic atrophy OMIM:256730
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Optic atrophy, Retinal vascular tortuosity OMIM:618768
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, EEG abnormality, Abnormal peripheral action potential amplitude, Decre... ORPHA:457205
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Hearing impairment, Hypsarrhythmia OMIM:617669
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... OMIM:204100
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Retinal detachment, Retinal fold, O... OMIM:251270
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Interictal epileptiform activity, Type I diabetes mellitus OMIM:618857
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Optic atrophy, Hearing impairment OMIM:609056
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic disc pallor, Optic atrophy OMIM:612989
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Hearing impairment, Papilledema OMIM:122860
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Klippel-Trénaunay Syndrome
Microcytic anemia, Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Hypoglycemia, Retinal degeneration, Optic atrophy OMIM:300438
Cherubism
Optic atrophy ORPHA:184
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Retinitis Pigmentosa
Hyperinsulinemia, Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of... ORPHA:791
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Optic disc pallor, Hypsarrhythmia, Multifocal epileptiform discharges OMIM:617166
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Macs Syndrome
Bruising susceptibility, Sparse eyebrow, Alopecia, Sparse hair, Prolonged bleeding time OMIM:613075
Van Buchem Disease
Hearing impairment, Optic atrophy from cranial nerve compression OMIM:239100
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Macrotia, Optic atrophy OMIM:617281
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Diabetes mellitus... OMIM:598500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Geographic atrophy, Abnormal auditory evo... OMIM:619260
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Sclerosteosis
Sensorineural hearing impairment, Facial palsy, Optic atrophy ORPHA:3152
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment ORPHA:99014
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, EEG with irregular generalized spike and wave complexes ORPHA:352596
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Neuroectodermal Melanolysosomal Disease
Macular dystrophy, Aplasia/Hypoplasia of the macula, Optic atrophy, Abnormality of the optic nerve ORPHA:33445
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Optic atrophy OMIM:614702
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormality of the optic disc, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Optic atrophy, Adult onset sensorineural hearing impairment ORPHA:329314
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, I... ORPHA:906
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Rod-cone dystro... OMIM:264470
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, EEG abnormality, Hypoglycemia, Impaired gluconeogenesis, Optic atrophy OMIM:261680
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Optic atrophy ORPHA:26792
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Hearing impairment, Hypsarrhythmia OMIM:619701
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Hearing impairment ORPHA:65
Griscelli Syndrome Type 2
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Petechiae, Hemophagocytosis, S... ORPHA:79477
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy OMIM:618324
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Cednik Syndrome
Sensorineural hearing impairment, Macrotia, Abnormality of peripheral nerve conduction, Optic atr... ORPHA:66631
Peho-Like Syndrome
Optic atrophy, Hypsarrhythmia OMIM:617507
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Sensorineural hearing impairment, Retinal detachment, Optic atrophy ORPHA:1473
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:616469
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Purpura, Splenomegaly, Hemolytic anemia, Alopecia, Prolo... ORPHA:809
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Optic atrophy OMIM:618253
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Retinal dystrophy, Remnants of the hyaloid vascular system ORPHA:231736
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Norrie Disease
Sensorineural hearing impairment, Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Hyperglycemia,... OMIM:615986
3-Methylglutaconic Aciduria Type 9
EEG abnormality, Optic atrophy, Hypsarrhythmia ORPHA:505216
Canavan Disease
Abnormality of retinal pigmentation, EEG abnormality, Optic atrophy, Hearing impairment ORPHA:141
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Optic Atrophy 1
Optic atrophy OMIM:165500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Retinal dystrophy, Optic atrophy, Diabetes mellitus ORPHA:49827
Neuronal Intranuclear Inclusion Disease
EEG abnormality, Optic atrophy ORPHA:2289
Madras Motor Neuron Disease
Tinnitus, Sensorineural hearing impairment, Facial palsy, Optic atrophy ORPHA:137867
Diencephalic Syndrome
Macrotia, Optic atrophy ORPHA:1672
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Congenital sensorineural hearing impairment ORPHA:3456
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Optic atrophy OMIM:270500
Behr Syndrome
Optic atrophy OMIM:210000
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Wiskott-Aldrich Syndrome
Eosinophilia, Petechiae, Purpura, Autoimmune hemolytic anemia, Absent microvilli on the surface o... OMIM:301000
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Progressive sensorineural hearing impairment, Peripheral demyelination, Optic atrophy OMIM:258650
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Thrombocytop... OMIM:600903
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy OMIM:619470
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Krabbe Disease
EEG abnormality, Peripheral demyelination, Decreased nerve conduction velocity, Optic atrophy, He... OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Hearing impairment OMIM:619057
Congenital Hydrocephalus
Sensorineural hearing impairment, Macular hypoplasia, Posteriorly rotated ears, Optic atrophy ORPHA:2185
Leber Optic Atrophy
Leber optic atrophy, Optic neuropathy, Optic atrophy, Central retinal vessel vascular tortuosity OMIM:535000
Retinitis Pigmentosa 14
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriola... OMIM:600132
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic disc pallor, Hearing impairment OMIM:617954
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Sensorineural hearing impairment, Diabetes mellitus, Cone/cone-rod dystroph... OMIM:249270
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Interictal epileptiform activity, Optic atrophy, Protruding ear OMIM:618737
Optic Atrophy 11
Facial diplegia, Macrotia, Hearing impairment, Optic atrophy OMIM:617302
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Optic disc pallor ORPHA:3173
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Optic neuropa... ORPHA:98977
Sarcosinemia
Optic atrophy, Infantile sensorineural hearing impairment ORPHA:3129
Hypervitaminosis A, Susceptibility To
Papilledema OMIM:240150
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Optic atrophy, Decreased nerve conduction velocity, Rod-cone dy... OMIM:612674
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Peroxisome Biogenesis Disorder 8B
Sensorineural hearing impairment, Retinal dystrophy, Optic atrophy OMIM:614877
Pontocerebellar Hypoplasia, Type 9
Peripheral axonal neuropathy, Optic atrophy OMIM:615809
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Mody
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient ne... ORPHA:552
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Abnormal autonomic nervous sys... ORPHA:97229
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Spastic Paraplegia 5A, Autosomal Recessive
Sensorineural hearing impairment, Optic atrophy OMIM:270800
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Red hair, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Red hair, Hy... ORPHA:71526
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Low-set ears, Optic nerve hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Axonal degeneration/regeneration, Mild neurosensory hearing impairment, Decreased motor... OMIM:601152
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Hearing impairment OMIM:612438
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Optic atrophy, Hearing impairment OMIM:618237
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:619686
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Beta-Propeller Protein-Associated Neurodegeneration
Abnormal autonomic nervous system physiology, Optic atrophy ORPHA:329284
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Hypsarrhythmia OMIM:618012
Leukodystrophy, Hypomyelinating, 2
Facial palsy, Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy OMIM:608804
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Neonatal Adrenoleukodystrophy
EEG abnormality, Sensorineural hearing impairment, Abnormality of retinal pigmentation, Low-set, ... ORPHA:44
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Splenic rupture, Subcutaneous hemorrh... ORPHA:335
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Optic atrophy OMIM:617810
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Wolfram Syndrome 2
Sensorineural hearing impairment, Optic neuropathy, Optic atrophy, Diabetes mellitus OMIM:604928
Deafness, Dystonia, And Cerebral Hypomyelination
Sensorineural hearing impairment, Optic atrophy OMIM:300475
Folinic Acid-Responsive Seizures
EEG with generalized slow activity, Sensorineural hearing impairment, Multifocal epileptiform dis... ORPHA:79097
Progressive Myoclonic Epilepsy Type 3
EEG with focal epileptiform discharges, Focal EEG discharges with secondary generalization, Optic... ORPHA:263516
Hyperostosis Cranialis Interna
Tinnitus, Sensorineural hearing impairment, Facial palsy, Optic atrophy OMIM:144755
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Optic disc pallor, Hypsarrhythmia OMIM:617276
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Sensory axonal neuropathy, Abnormal retinal morphology, Facial palsy, Optic atrop... ORPHA:254886
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Facial palsy, Optic atrophy OMIM:614707
Pontocerebellar Hypoplasia, Type 3
Low-set ears, Macrotia, Hearing impairment, Optic atrophy OMIM:608027
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy OMIM:615085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Red hair OMIM:609734
Optic Pathway Glioma
Neurofibromas, Optic atrophy, Papilledema ORPHA:2086
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Macrotia, Low-set ears, Optic atrophy OMIM:615419
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Mucolipidosis Iv
Retinal degeneration, Optic atrophy OMIM:252650
Chediak-Higashi Syndrome
Hypopigmentation of hair, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Hemopha... OMIM:214500
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Attenuation of retinal blood vessels, Decreased sensory nerve conductio... OMIM:609033
Lissencephaly 5
Optic atrophy, Hearing impairment OMIM:615191
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic neuropathy, Optic atrophy, Hearing impairment OMIM:618249
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Sensorineural hearing impairment, Hypoglycemia, Optic atrophy OMIM:614739
Lissencephaly 8
Optic atrophy OMIM:617255
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Sensorineural hearing impairment, Optic nerve hypoplasia, Macrotia, Optic... ORPHA:163937
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Congenital Muscular Dystrophy, Fukuyama Type
EEG abnormality, Retinal dysplasia, Optic atrophy ORPHA:272
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Arts Syndrome
Optic atrophy, Hearing impairment OMIM:301835
Acquired Von Willebrand Syndrome
Hypochromic anemia, Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastroi... ORPHA:99147
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Macrotia, Optic atrophy ORPHA:1154
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Large earlobe, EEG abnormality, Optic atrophy OMIM:618346
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Spinocerebellar Ataxia 13
Optic atrophy, Hearing impairment OMIM:605259
Osteopetrosis, Autosomal Recessive 4
Facial palsy, Optic disc pallor, Optic atrophy OMIM:611490
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy, Decreased number of peripheral my... ORPHA:320406
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Decreased... ORPHA:1187
Schindler Disease, Type I
Optic atrophy OMIM:609241
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Peripheral demyelination, Hyperglycemia OMIM:220111
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cerebral Visual Impairment
Neonatal hypoglycemia, Optic nerve hypoplasia, Retinopathy of prematurity, Optic disc pallor, Inc... ORPHA:447788
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Sensorineural hearing impairment, Optic atrophy ORPHA:504476
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, EEG abnormality, Optic atrophy, Low-set ears ORPHA:2971
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Profuse pigmented skin lesions, Multiple lenti... OMIM:160980
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Prolonged prothrombin time, Intracranial hemorrhage, Internal ... ORPHA:49566
Infantile Refsum Disease
Sensorineural hearing impairment, Rod-cone dystrophy, Facial palsy, Optic atrophy, Hearing impair... ORPHA:772
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Progressive sensorineural hearing impairment, Peripheral axonal... OMIM:601338
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment ORPHA:2801
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Optic atrophy, Hypsarrhythmia OMIM:618437
Triple A Syndrome
Sensorineural hearing impairment, Optic atrophy, Motor axonal neuropathy ORPHA:869
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor OMIM:619328
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Decreased number of large peripheral myelinated nerve fibers, O... ORPHA:101085
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Optic atrophy OMIM:618241
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Adult Krabbe Disease
Peripheral demyelination, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Chromosome 19P13.13 Deletion Syndrome
Optic nerve hypoplasia, Optic atrophy OMIM:613638
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Macrotia, Protruding ear OMIM:617481
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Hypsarrhy... ORPHA:485421
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Idiopathic Intracranial Hypertension
Pulsatile tinnitus, Papilledema ORPHA:238624
X-Linked Charcot-Marie-Tooth Disease Type 2
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Optic disc pallor, O... ORPHA:101076
Noonan Syndrome 9
Prolonged prothrombin time, Curly hair, Sparse eyebrow OMIM:616559
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Low-set ears, Macrotia, Postprandial hyperglycemia, Hyper... OMIM:246200
Infantile Krabbe Disease
Cherry red spot of the macula, Decreased nerve conduction velocity, Prolonged brainstem auditory ... ORPHA:206436
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Optic atrophy ORPHA:401768
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment ORPHA:369939
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Hypsarrhythmia OMIM:619076
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
EEG abnormality, Optic atrophy ORPHA:529665
Canavan Disease
Optic atrophy, Hearing impairment OMIM:271900
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Abnormal bleeding, Prolonged prothrombin time, Th... ORPHA:91547
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Morning glory anomaly, Sensorineural hearing impairment, Diabetes mel... ORPHA:98673
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Diabetes mellitus, Decreased sen... OMIM:229300
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Purpura, Neutropenia, Anemia, Hypertrichosis, Reticulocytosis, Microangiop... ORPHA:2330
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Hearing impairment OMIM:236792
Hsd10 Disease, Infantile Type
Hypoglycemia, Retinal degeneration, Rod-cone dystrophy, Optic atrophy, Hearing impairment ORPHA:391428
Woods Syndrome
Optic atrophy OMIM:615236
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor OMIM:619170
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
EEG abnormality, Optic atrophy OMIM:618868
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal detachment, Retinal fold, Protruding ear,... OMIM:152950
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor OMIM:616204
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine OMIM:300539
Short Syndrome
Sensorineural hearing impairment, Insulin-resistant diabetes mellitus, Macrotia, Glucose intolera... OMIM:269880
Infantile Cerebellar-Retinal Degeneration
Sensorineural hearing impairment, Retinal dystrophy, Optic atrophy OMIM:614559
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Muscle-Eye-Brain Disease
EEG abnormality, Optic atrophy ORPHA:588
Combined Oxidative Phosphorylation Deficiency 7