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Gene: Slc7a11 MGI:1347355

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Gene Summary

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

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 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
increased circulating glucose level Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 3.13×10-05
abnormal vitreous body morphology Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 2.18×10-06

Download data as:  TSV  XLS

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Prolonged bleeding time, Intermittent thrombocytopenia 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
Optic atrophy, Leber optic atrophy OMIM:308905
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Hearing impairment OMIM:617717
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Sensorineural hearing impairmen... OMIM:614296
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Optic Atrophy 2
Optic atrophy OMIM:311050
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... OMIM:614076
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Olivopontocerebellar Atrophy-Deafness Syndrome
EEG abnormality, Optic atrophy, Chorioretinal coloboma, Hearing impairment ORPHA:2732
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, EEG with generalized polyspikes OMIM:614706
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albinism, Impaired ADP-induce... OMIM:614074
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Hypopigmentation of the skin, Epistaxis, Albinism, Im... OMIM:614075
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Hearing impairment ORPHA:1186
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Hearing impairment, Attenuation of retinal blood vessels OMIM:614504
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Sensorineural hearing impairment, Optic atrophy OMIM:620086
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... OMIM:614072
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction, Bilateral sensorineural hearing impairment, Progres... OMIM:124950
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Optic Atrophy 6
Optic atrophy OMIM:258500
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, EEG abnormality OMIM:610951
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemi... OMIM:520000
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Prelingual sensorineural hearing impairment OMIM:618632
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineu... ORPHA:411590
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, EEG with occipital epileptiform disc... OMIM:619323
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... OMIM:203300
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Hearing impairment OMIM:309555
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... OMIM:617879
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy ORPHA:320360
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy, Hypsarrhythmia OMIM:618776
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia OMIM:617830
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Merrf
Sensorineural hearing impairment, Optic atrophy ORPHA:551
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time ORPHA:638
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Optic atrophy OMIM:619303
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Camos Syndrome
Optic atrophy ORPHA:83472
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia OMIM:618856
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Optic atrophy OMIM:300928
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Sensorineural hearing impairment, Optic atrophy OMIM:618768
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy, Hearing impairment ORPHA:178377
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Fair hai... OMIM:608233
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy, Hypsarrhythmia OMIM:617086
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Hermansky-Pudlak Syndrome 11
Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granul... OMIM:619172
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Interictal epileptiform activity, Glycosuria OMIM:618857
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Hearing impairment, Attenuation of retinal blood vessels OMIM:617082
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... ORPHA:99802
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal peripheral action p... ORPHA:457205
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia OMIM:620195
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy ORPHA:1513
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Essential Fructosuria
Hyperglycemia ORPHA:2056
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... OMIM:619260
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy OMIM:612989
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Hearing impairment OMIM:609056
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia ORPHA:90308
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment ORPHA:99014
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Facial diplegia, Optic atrophy, Hearing impairment OMIM:122860
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... ORPHA:791
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous sy... OMIM:598500
Sclerosteosis
Sensorineural hearing impairment, Optic atrophy, Facial palsy ORPHA:3152
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperglycemia, Axonal degeneration, Degen... OMIM:604484
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Optic atrophy, Hypoglycemia, Retinal degeneration OMIM:300438
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... OMIM:268315
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Griscelli Syndrome Type 2
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment ORPHA:65
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Hyperglycemia, Optic disc pallor, Sensorineural hearing impairment OMIM:619737
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Alopecia, Splenomegaly, L... ORPHA:809
3-Methylglutaconic Aciduria Type 9
EEG abnormality, Optic atrophy, Hypsarrhythmia ORPHA:505216
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology, Hearin... OMIM:610743
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment, EEG abnormality ORPHA:141
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... OMIM:615986
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Optic atrophy, EEG abnormality, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Madras Motor Neuron Disease
Sensorineural hearing impairment, Optic atrophy, Facial palsy, Tinnitus ORPHA:137867
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Macs Syndrome
Prolonged bleeding time, Alopecia, Sparse eyebrow, Sparse hair, Bruising susceptibility OMIM:613075
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sensorineural hearing impairment, Diabetes mellitus, Retinal dystrophy ORPHA:49827
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Pseudopapilledema, Facial palsy ORPHA:3456
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Multifocal epileptiform discharges, Hypsarrhythmia, EEG abnormality, Attenuati... OMIM:617166
Diencephalic Syndrome
Macrotia, Optic atrophy ORPHA:1672
Neuronal Intranuclear Inclusion Disease
EEG abnormality, Optic atrophy ORPHA:2289
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy, Hypsarrhythmia OMIM:617276
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Reti... OMIM:249270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Peripheral demyelination, He... OMIM:245200
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Insulin-resistant diabetes mellitus, Optic atrophy, Hearing impairment ORPHA:401768
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, EEG abnormality ORPHA:3173
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal EEG discharges with secondary generalization, EEG with focal epileptiform di... ORPHA:263516
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Congenital Fibrinogen Deficiency
Abnormal bleeding, Abnormality of the subungual region, Internal hemorrhage, Splenic rupture, Pro... ORPHA:335
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... ORPHA:44
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
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
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Sensorineural hearing impairment, Rod-cone dystrophy, Optic ... OMIM:612674
Wolfram Syndrome 2
Sensorineural hearing impairment, Diabetes mellitus, Optic atrophy, Optic neuropathy OMIM:604928
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Hearing impairment OMIM:614651
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin, Hyperinsulinemia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin, Hyperinsulinemia ORPHA:71526
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... OMIM:214500
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Aniridia 2
Optic atrophy OMIM:617141
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Canavan Disease
Optic atrophy, Multifocal epileptiform discharges, Hearing impairment, Hypsarrhythmia OMIM:271900
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... ORPHA:99147
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Hyperostosis Cranialis Interna
Sensorineural hearing impairment, Optic atrophy, Facial palsy, Tinnitus OMIM:144755
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Congenital sensorineural hearing impairment, Optic atr... ORPHA:1187
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy ORPHA:504476
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment ORPHA:2801
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Prolonged prothrombin time OMIM:616559
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Sensorineural hearing impairment, O... ORPHA:101076
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Hypertrichosis, Anemia, Leukopenia, Prolonged prothrombin time... ORPHA:2330
Relapsing Fever
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... ORPHA:91547
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Diabetes mellitus, Optic atrophy, Decreased amplitud... OMIM:229300
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy, Hypoglycemia, Low-set ears OMIM:608688
Donohue Syndrome
Hyperinsulinemia, Low-set ears, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperglycemia, ... OMIM:246200
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Multiple lentigines, Red hair, Freckling, Prof... OMIM:160980
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic atrophy, Optic neuropathy, Hearing impairment OMIM:618249
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Pigmentary retinopathy, Macrotia, Abnormality... ORPHA:90321
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abnormal pinna morphology, Low-set ears,... OMIM:609069
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality ORPHA:206448
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
EEG abnormality, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Absent earlobe OMIM:609037
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Sensorineural hearing impairment, Glucos... OMIM:269880
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Sensorineural hearing impairment, Optic atrophy, Type II diabetes mellitus OMIM:604121
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Cockayne Syndrome A
Retinal atrophy, Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory ev... OMIM:216400
Dend Syndrome
Hyperglycemia, Thickened ears, Hypsarrhythmia ORPHA:79134
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Microtia, Re... OMIM:614643
Cole Disease
Hyperglycemia OMIM:615522
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic a... OMIM:614863
Norrie Disease
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Retinal dysplasia, Retinal fold OMIM:310600
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epist... ORPHA:79430
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Congenital sensorineural hearing impairment, Insulin-r... ORPHA:293967
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ... OMIM:133540
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Low-set ears, Hearing impairment OMIM:617516
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Sensorineural hearing impairment, Op... OMIM:610651
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level OMIM:609734
Oculo-Palato-Cerebral Syndrome
Thickened helices, Retinal detachment, Macrotia, Remnants of the hyaloid vascular system ORPHA:2714
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Hyperinsulinemia, Protruding ear, Vitreous hemorrhage, L... OMIM:620185
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Motor axona... OMIM:231550
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Abnormal optic disc morphology, Optic atrophy, Low-set ears ORPHA:363417
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis OMIM:212750
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglyc... ORPHA:99885
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H... OMIM:603553
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... ORPHA:84064
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hyperglycemia, ... OMIM:151660
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia OMIM:616271
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Diabetes mellitus ORPHA:465508
Norrie Disease
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Abnormality of hair texture ORPHA:88618
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Prolonged prothrombin time, Fasting hyperinsulinemia, Hyperinsulinemic hy... ORPHA:71212
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Horizontal eyebrow, Epistaxis ORPHA:96168
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy OMIM:259900
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, EEG abnormality, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy, Hearing... OMIM:124000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... OMIM:609049
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time OMIM:618280
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Low posterior hairline, Prolonged prothrombin time,... ORPHA:79324
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Retinal dystrophy, Subretinal deposits, Abnormal optic disc mo... ORPHA:397715
Brittle Cornea Syndrome
Bruising susceptibility, Abnormality of hair pigmentation ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... ORPHA:163746
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fast... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time OMIM:212065
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Prolonged prothrombin time OMIM:614921
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Sensorineural hearing impairment, Cu... ORPHA:444077
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Abnormality of retinal pigmentation, Acanthocytosis, Prolonge... ORPHA:14
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Abnormal earlobe morphology, Large earlobe, Abnormal optic dis... ORPHA:96121
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Marburg Hemorrhagic Fever
Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo... ORPHA:99826
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Hearing i... ORPHA:508498
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Abnormality of peripheral nerve conduction ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Leprechaunism
Insulin resistance, Hyperinsulinemia, Protruding ear, Recurrent infantile hypoglycemia, Fasting h... ORPHA:508
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia OMIM:276700
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... OMIM:300166
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Yellow Fever
Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos... ORPHA:99829
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Ganglioneuroma, Hyperglycemia, Abnormal autonomic nervous system physiology, Sensorineural hearin... ORPHA:293987
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Prolonged prothrombin time, A... ORPHA:247598
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear... OMIM:619539
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time, Pigmentary retinopathy ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Peripheral demyelination, Low-set ears OMIM:220111
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... OMIM:619525
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Prolonged prothrombin time, His... ORPHA:171
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma OMIM:157170

Histopathology

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

There is no histopathology data for Slc7a11

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 Slc7a11.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cystine/glutamate antiporter System xc- deficiency impairs insulin secretion in mice. Diabetologia (August 2023) Slc7a11tm1c(EUCOMM)Wtsi Slc7a11tm1a(EUCOMM)Wtsi PMC10541846
HIF-2α activation potentiates oxidative cell death in colorectal cancers by increasing cellular iron. The Journal of clinical investigation (June 2021) Slc7a11tm1c(EUCOMM)Wtsi PMC8203462
Cysteine depletion induces pancreatic tumor ferroptosis in mice. Science (New York, N.Y.) (April 2020) Slc7a11tm1c(EUCOMM)Wtsi Slc7a11tm1a(EUCOMM)Wtsi 32241947
Glutamate Signaling in Hepatic Stellate Cells Drives Alcoholic Steatosis. Cell metabolism (August 2019) Slc7a11tm1c(EUCOMM)Wtsi Slc7a11tm1a(EUCOMM)Wtsi 31474565

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MGI Allele Allele Type Produced
Slc7a11tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc7a11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc7a11tm40212(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc7a11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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