Gene Summary

Name:
PR domain containing 5
Synonyms:
6530401I24Rik,  E130112L17Rik,  PFM2,  4432417F03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Prdm5em1(IMPC)Tcp HOM Early adult 0.00
increased circulating sodium level Prdm5em1(IMPC)Tcp HOM Early adult 7.63×10-05
decreased exploration in new environment Prdm5em1(IMPC)Tcp HOM   Early adult 2.38×10-05
abnormal skin morphology Prdm5em1(IMPC)Tcp HOM Early adult 0.00
abnormal optic disk morphology Prdm5em1(IMPC)Tcp HOM Early adult 8.19×10-05
abnormal auditory brainstem response Prdm5em1(IMPC)Tcp HOM   Early adult 2.55×10-08

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.

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Histopathology

Images

8 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Prdm5 mutations

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

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

The table below shows human diseases associated to Prdm5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brittle Cornea Syndrome
Osteoporosis, Joint hyperflexibility, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Brittle Cornea Syndrome 2
Joint hypermobility, Recurrent fractures OMIM:614170

The table below shows human diseases predicted to be associated to Prdm5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteoporosis
Osteoporosis OMIM:166710
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Osteopenia, Camptodactyly, Joint contracture of the hand OMIM:264010
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Osteogenesis Imperfecta, Type Viii
Joint laxity, Recurrent fractures, Multiple prenatal fractures, Decreased skull ossification, Ost... OMIM:610915
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Wolfram-Like Syndrome, Autosomal Dominant
Hearing impairment, Optic atrophy, Anxiety, Diabetes mellitus OMIM:614296
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure ORPHA:46532
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Mental deterioration, Retinal dystrophy, EEG abnormality OMIM:614706
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Hearing impairment, Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Optic atrophy, Rod-cone dystrophy OMIM:609055
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Hyaline Fibromatosis Syndrome
Osteoporosis, Osteopenia, Osteolysis, Progressive flexion contractures OMIM:228600
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability OMIM:613672
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bone ossification ORPHA:1952
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Hearing impairment, Optic atrophy, EEG abnormality ORPHA:2732
Optic Atrophy 2
Optic atrophy OMIM:311050
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Diabetes Insipidus, Nephrogenic, X-Linked
Diabetes insipidus, Irritability, Hypernatremia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Irritability, Hypernatremia OMIM:125800
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Sensorineural hearing impairment, Abnormal salivary gland morphology ORPHA:3225
Optic Atrophy 5
Optic atrophy OMIM:610708
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Optic atrophy, Optic disc pallor OMIM:165300
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Ribose 5-Phosphate Isomerase Deficiency
Elevated circulating ribitol concentration, Optic atrophy, Increased level of D-threitol in plasma OMIM:608611
Webb-Dattani Syndrome
Cryptorchidism, Hypernatremia, Pituitary hypothyroidism, Diabetes insipidus, Decreased response t... OMIM:615926
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Wolfram-Like Syndrome
Male hypogonadism, Dementia, Hypothyroidism, Abnormality of the pinna, Delayed puberty, Diabetes ... ORPHA:411590
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Congenital hypothyroidism, Hyperkalemia, Precocious puberty OMIM:614736
Ceroid Lipofuscinosis, Neuronal, 7
Mental deterioration, Pigmentary retinopathy, EEG abnormality, Optic atrophy, Retinopathy OMIM:610951
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinohepatoendocrinologic Syndrome
Infertility, Maturity-onset diabetes of the young, Hypothyroidism, Elevated circulating creatine ... OMIM:268040
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Abcd Syndrome
Hypopigmentation of the fundus, Hearing impairment, Abnormal auditory evoked potentials, Aganglio... OMIM:600501
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Hyperuricemia, Abnormal autonomic nervous system physi... ORPHA:94093
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Aplasia Cutis Congenita
Abnormality of bone mineral density ORPHA:1114
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Periventricular Nodular Heterotopia 7
Cryptorchidism, Hearing impairment, Optic atrophy OMIM:617201
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Merrf
Cognitive impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:551
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche, Motor axonal neuropathy, Sensory axonal neuropathy, EEG abnor... ORPHA:457205
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hypothyroidism, Hashimoto thyroiditis, Abnormal autonomic nervous system physiology, Hypo... ORPHA:83601
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor, Dementia OMIM:182830
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hyponatremia, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocortico... ORPHA:91354
Pyruvate Carboxylase Deficiency
Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in blood, Increased s... ORPHA:3008
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone... OMIM:618889
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cognitive impairment, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Irritability, Decreased serum creatinine OMIM:300539
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hyponatremia, Increased circulating ren... ORPHA:556037
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Peripheral tractional retinal de... OMIM:143200
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Peripheral axonal neuropat... OMIM:617519
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Hearing impairment, Abnormal auditory evoked potentials, Decre... OMIM:601455
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hyponatremia, Increased circulating ren... ORPHA:556030
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Chorioretinal atro... OMIM:607921
Spastic Paraplegia 55, Autosomal Recessive
Cognitive impairment, Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Retinal degeneration, Irritability, EEG abnormality, Optic atrophy, Ma... OMIM:256730
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Cognitive impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with occipital epileptiform discharges, EEG with generalized epileptiform disc... OMIM:619323
Hyperparathyroidism 4
Osteopenia OMIM:617343
Central Diabetes Insipidus
Diabetes insipidus, Hyponatremia, Anxiety ORPHA:178029
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Hartsfield Syndrome
Cryptorchidism, Hypernatremia, Posteriorly rotated ears, Diabetes insipidus, Hypospadias, Micrope... OMIM:615465
Nephrogenic Diabetes Insipidus
Hypernatremia, Nephrogenic diabetes insipidus ORPHA:223
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Psychomotor deterioration, Anxiety, Optic atrophy, Macular degeneration, Rod-cone dystr... OMIM:204200
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:1486
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Apathy, Hyponatremia, Hearing impairment, Anx... ORPHA:100924
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia OMIM:616859
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... OMIM:124950
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia OMIM:240200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Adult onset sensorineural hearing impairment, Dementia, Sensory axonal neuropathy, Cognitive impa... ORPHA:329314
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Emotional lability ORPHA:98890
Atypical Pantothenate Kinase-Associated Neurodegeneration
Inertia, Violent behavior, Emotional lability, Irritability, Cognitive impairment, Optic atrophy,... ORPHA:216873
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:168558
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Onion bulb formation, Hearing impairment, Sensorineural hearing impairment, O... OMIM:311070
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia OMIM:617830
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldos... OMIM:177735
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration, Optic atrophy, Mental deterioration OMIM:258700
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Sensorineural hearing impairmen... ORPHA:95513
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Proteus Syndrome
Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Hearing impairment, Optic atrophy OMIM:309555
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism, ... OMIM:264350
Infantile-Onset Spinocerebellar Ataxia
Hearing impairment, Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Spinocerebellar Ataxia 32
Cognitive impairment, Infertility, Testicular atrophy, Azoospermia OMIM:613909
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Hearing impairment, Optic atrophy, Irritability OMIM:609056
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hypsarrhythmia OMIM:300884
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Spinocerebellar Ataxia Type 32
Cognitive impairment, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Anxiety, Optic disc pallor OMIM:618970
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Hyperactive renin-angiotensin system... ORPHA:90790
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, EEG abnormality, Aggressive behavior, Hypsarrhythmia OMIM:617698
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Mohr-Tranebjaerg Syndrome
Mental deterioration, Dementia, Absent brainstem auditory responses, Sensorineural hearing impair... ORPHA:52368
Auditory Neuropathy And Optic Atrophy
Hearing impairment, Optic atrophy, Rod-cone dystrophy OMIM:617717
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Dementia, Hypogonadism, Optic atrophy, Hypogonadotropic hypo... ORPHA:1173
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor, Hypsarrhythmia OMIM:618776
Camos Syndrome
Optic atrophy ORPHA:83472
Hemimegalencephaly
Interictal EEG abnormality, Hemihypsarrhythmia, EEG with burst suppression, EEG with polyspike wa... ORPHA:99802
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal testis morphology, Conductive hea... ORPHA:791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Macular edema, Retinal detachm... ORPHA:209943
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Lamb-Shaffer Syndrome
Posteriorly rotated ears, Optic atrophy, Anxiety OMIM:616803
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:600081
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Usher Syndrome, Type Iiib
Hearing impairment, Optic disc pallor OMIM:614504
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
3-Methylglutaconic Aciduria, Type Iii
Cognitive impairment, Optic atrophy OMIM:258501
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Irritability, Bilateral sensorineural hearing impairment, Optic atrophy, ... OMIM:264470
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Sheehan Syndrome
Pituitary hypothyroidism, Sensorineural hearing impairment, Abnormal size of pituitary gland, Adr... ORPHA:91355
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Aggressive behavior, Abnormal autonomic nervous system physiol... ORPHA:97229
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Drusen, Optic disc pallor OMIM:618632
Intellectual Developmental Disorder, X-Linked 104
Abnormality of the pinna, Optic atrophy, Aggressive behavior OMIM:300983
Cednik Syndrome
Macrotia, Sensorineural hearing impairment, Abnormality of peripheral nerve conduction, Hypogonad... ORPHA:66631
Optic Atrophy 6
Optic atrophy OMIM:258500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Shawl scrotum, Hyponatremia, Adrena... OMIM:617053
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Optic atrophy OMIM:619303
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Gm1-Gangliosidosis, Type Ii
Progressive psychomotor deterioration, Optic atrophy OMIM:230600
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Papilledema, Hearing impairment, Elevated circulating parathyroid hormone level,... OMIM:122860
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Hearing impairment, Facial palsy, Optic atrophy ORPHA:178377
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Emotional lability, Secondary amenorrhea, De... OMIM:603896
Optic Atrophy 9
Optic atrophy OMIM:616289
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Sarcosinemia
Hypersarcosinemia, Infantile sensorineural hearing impairment, Optic atrophy, Emotional lability ORPHA:3129
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Cholelithiasis, Glucocortocoid-insensitive prima... ORPHA:171876
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Adrenal insufficiency, ... ORPHA:427
Addison Disease
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Orthostat... ORPHA:85138
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Isolated Oxycephaly
Papilledema ORPHA:63440
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Optic atrophy OMIM:614947
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Adrenal hypoplasia, Adrenocorticotropin defic... ORPHA:199296
Narp Syndrome
Dementia, Retinal pigment epithelial mottling, Hearing impairment, Irritability, Retinal arteriol... ORPHA:644
Norrie Disease
Aggressive behavior, Dementia, Retinal dysplasia, Sensorineural hearing impairment, Optic atrophy... OMIM:310600
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Mental deterioration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
3-Methylglutaconic Aciduria Type 9
Optic atrophy, EEG abnormality, Aggressive behavior, Hypsarrhythmia ORPHA:505216
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Irritability ORPHA:411493
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Hypsarrhythmia OMIM:617086
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypokalemia, Hypochloremia OMIM:214700
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Herpes Simplex Virus Encephalitis
Hyponatremia, EEG abnormality, Elevated circulating C-reactive protein concentration ORPHA:1930
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hearing impairment, Optic atrophy, Hypsarrhythmia OMIM:617669
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 10
Cognitive impairment, Optic atrophy, Hyperalaninemia OMIM:614702
Hereditary Coproporphyria
Hyponatremia, Long hairs growing from helix of pinna, Abnormal circulating porphyrin concentration ORPHA:79273
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Oligomen... ORPHA:95613
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy ORPHA:1513
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, Macular dystrophy ORPHA:33445
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior, Dementia ORPHA:329284
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Aggressive behavior, Retinal degeneration, Sensorineural he... OMIM:300438
Porphyria Variegata
Hyponatremia, Abnormal autonomic nervous system physiology, Abnormal circulating porphyrin concen... ORPHA:79473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613154
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Diabetes mellitus, Hyponatremia, Hyperuricemia OMIM:613845
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Retinal degeneration, Abnormal auditory ev... OMIM:619260
Canavan Disease
Abnormality of retinal pigmentation, Hearing impairment, EEG abnormality, Cognitive impairment, O... ORPHA:141
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Elevated circulating creatine kinase concentration, Optic neuritis, ... ORPHA:254886
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy, Optic disc pallor OMIM:608553
Diencephalic Syndrome
Optic atrophy, Long penis, Abnormality of the hypothalamus-pituitary axis, Macrotia ORPHA:1672
Cofs Syndrome
Hypogonadism, Sensorineural hearing impairment, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Optic atrophy, Retinal vascular tortuosity OMIM:618768
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, ... ORPHA:137902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, EEG with irregular generalized spike and wave complexes ORPHA:352596
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Primary adrenal insufficienc... ORPHA:95409
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Neuronal Intranuclear Inclusion Disease
Optic atrophy, EEG abnormality, Dementia ORPHA:2289
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Developmental And Epileptic Encephalopathy 49
Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossi... OMIM:241530
Krabbe Disease
Peripheral demyelination, Hearing impairment, Motor deterioration, EEG abnormality, Decreased ner... OMIM:245200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Retinal detachme... OMIM:251270
Myopathy With Extrapyramidal Signs
Elevated circulating creatine kinase concentration, Optic atrophy, Peripheral axonal neuropathy OMIM:615673
Peroxisome Biogenesis Disorder 8B
Cognitive impairment, Sensorineural hearing impairment, Optic atrophy, Retinal dystrophy OMIM:614877
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Erectile dy... ORPHA:206448
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Dementia, Pigmentary retinopathy, Retinal degeneration, Emotional lab... ORPHA:79264
Cherubism
Optic atrophy ORPHA:184
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Mental deterioration OMIM:619310
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Snakebite Envenomation
Hyponatremia, Hypopituitarism ORPHA:449285
Progressive Myoclonic Epilepsy Type 3
Dementia, EEG with focal epileptiform discharges, Progressive psychomotor deterioration, Optic at... ORPHA:263516
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Cholera
Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability, Spontane... ORPHA:173
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Sensorineural hearing impairment, Hypokalemia, Hypochloremia, H... OMIM:613090
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, E... ORPHA:206443
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism, Optic atrophy OMIM:618766
Spastic Paraplegia 5A, Autosomal Recessive
Cognitive impairment, Sensorineural hearing impairment, Optic atrophy OMIM:270800
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Peripheral demyelination, Decreased ne... ORPHA:280234
Filippi Syndrome
Cryptorchidism, Optic atrophy, Ambiguous genitalia OMIM:272440
Mucolipidosis Iv
Progressive neurologic deterioration, Optic atrophy, Hypergastrinemia, Retinal degeneration OMIM:252650
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Peho-Like Syndrome
Optic atrophy, Hypsarrhythmia OMIM:617507
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypocalcemia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia... OMIM:618183
Japanese Encephalitis
Decreased motor nerve conduction velocity, EEG with burst suppression, Hyponatremia, Interictal e... ORPHA:79139
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Severe Canavan Disease
Optic atrophy, Irritability ORPHA:314911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:613151
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hearing impairment, Optic atrophy, Irritability, Peripheral demyelination OMIM:618237
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Mitochondrial Complex I Deficiency, Nuclear Type 33
Progressive neurologic deterioration, Hyperammonemia, Optic atrophy OMIM:618253
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic disc pallor, Optic atrophy OMIM:612989
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Testicular atrophy, Decreased fertility OMIM:313200
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Aggressive behavior, Facial palsy, Optic atrophy OMIM:614707
Wolcott-Rallison Syndrome
Hypothyroidism, Hyperbilirubinemia, Central hypothyroidism, Hyponatremia, Neonatal insulin-depend... ORPHA:1667
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy OMIM:618324
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Hearing impairment, Optic atrophy ORPHA:99014
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:264700
Holoprosencephaly
Cryptorchidism, Abnormality of the antihelix, Panhypopituitarism, Chorioretinal coloboma, Macroti... ORPHA:2162
Cach Syndrome
Progressive neurologic deterioration, Apathy, Primary amenorrhea, Optic neuritis, Nonketotic hype... ORPHA:135
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Infantile Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Cherry red ... ORPHA:206436
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Sensorineural hearing impairment, Hypokalemia, Hypochloremia, H... OMIM:602522
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Optic disc pallor, Vaginal hernia ORPHA:3173
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Vitamin D-Dependent Rickets, Type 2A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:277440
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy ORPHA:26792
Acute Intermittent Porphyria
Hyponatremia, Anxiety, Motor axonal neuropathy, Memory impairment, Mental deterioration ORPHA:79276
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Ganglioneuroma, Premature adrenarche, Self-injurious behavior, Central hypot... ORPHA:293987
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
4H Leukodystrophy
Delayed puberty, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Optic atrophy,... ORPHA:289494
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Optic atrophy OMIM:601338
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Facial palsy, Cognitive imp... OMIM:608804
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Optic Atrophy 1
Optic atrophy OMIM:165500
Spinocerebellar Ataxia Type 1
Inertia, Abnormal nerve conduction velocity, Cognitive impairment, Memory impairment, Optic atrop... ORPHA:98755
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Stt3B-Cdg
Scrotal hypoplasia, Cryptorchidism, Optic atrophy, Micropenis ORPHA:370924
Melnick-Needles Syndrome
Craniofacial hyperostosis, Joint hyperflexibility, Osteolytic defects of the phalanges of the han... ORPHA:2484
Familial Dysautonomia
Optic atrophy, Hyponatremia, Orthostatic hypotension ORPHA:1764
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Azoospermia, Amenorrhea, Increased serum iron, Impo... OMIM:235200
Leigh Syndrome With Leukodystrophy
Hearing impairment, Optic atrophy, Pigmentary retinopathy, Emotional lability ORPHA:255241
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Decreased motor nerve conduction velocity, Optic atrophy, Macrotia OMIM:615419
Autosomal Dominant Optic Atrophy, Classic Form
Dementia, Temporal optic disc pallor, Hypothyroidism, Morning glory anomaly, Sensorineural hearin... ORPHA:98673
Spastic Paraplegia 75, Autosomal Recessive
Cognitive impairment, Optic atrophy OMIM:616680
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Whipple Disease
Erectile dysfunction, Hyponatremia, Hypothyroidism ORPHA:3452
Optic Pathway Glioma
Neurofibromas, Optic atrophy, Papilledema, Precocious puberty ORPHA:2086
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Hypoproteinemi... ORPHA:167
Wolfram Syndrome 1
Pigmentary retinopathy, Hypothyroidism, Testicular atrophy, Sensorineural hearing impairment, Dia... OMIM:222300
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Irritability, Optic disc pallor OMIM:615281
Warburg Micro Syndrome 1
Cryptorchidism, Optic atrophy, External genital hypoplasia, Macrotia OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Retinal detachment, Sensorineural hearing impairment, Optic atrophy ORPHA:1473
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Increased susceptibility to fractures, Thin bony cortex, Delayed epiphysea... ORPHA:289157
Muscle-Eye-Brain Disease
Cognitive impairment, Optic atrophy, EEG abnormality, Elevated circulating creatine kinase concen... ORPHA:588
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Peripheral demyelination, Peripheral hypomy... OMIM:609136
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability ORPHA:254343
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Cerebrotendinous Xanthomatosis
Aggressive behavior, Axonal degeneration, Hypothyroidism, Abnormal motor evoked potentials, Chole... ORPHA:909
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Sensorineural hearing impairment, Diabetes mellitus... OMIM:598500
Optic Atrophy 11
Hearing impairment, Optic atrophy, Facial diplegia, Macrotia OMIM:617302
Cystinosis, Nephropathic
Decreased plasma carnitine, Progressive neurologic deterioration, Male hypogonadism, Pigmentary r... OMIM:219800
Developmental And Epileptic Encephalopathy 47
Multifocal epileptiform discharges, EEG abnormality, Optic disc pallor, Hypsarrhythmia OMIM:617166
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Optic atrophy OMIM:270500
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Adrenal medullary hypoplasia OMIM:248000
Congenital Hydrocephalus
Posteriorly rotated ears, Sensorineural hearing impairment, Macular hypoplasia, Optic atrophy ORPHA:2185
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Decreased testicular size, Optic atrophy, Hypospadias OMIM:610198
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Retinal degeneration, Cone/cone-rod dystrophy, Sensorineural hearing impairment, ... OMIM:249270
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Primary adrenal insuffici... ORPHA:44
Cockayne Syndrome A
Cryptorchidism, Peripheral dysmyelination, Dementia, Thymic hormone decreased, Irregular menstrua... OMIM:216400
Multiple Mitochondrial Dysfunctions Syndrome 3
Cognitive impairment, Optic atrophy, Irritability OMIM:615330
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Optic atrophy OMIM:619057
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Progressive sensorineural hearing impairment, Optic atrophy, Peripheral demyelination OMIM:258650
Lissencephaly 8
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:617255
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Dementia, Orthostatic hypotension, Erectile dysfunction, Abnormal ... ORPHA:99027
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Delayed menarche ORPHA:330050
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Dementia, Motor deterioration, EEG with abnormally slow frequencies, Cognitive impairment, Sponta... ORPHA:1947
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, EEG abnormality OMIM:617810
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Abnormality of iron homeostasis, Ameno... ORPHA:465508
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Cognitive impairment, Optic atrophy, Pigmentary retinopathy OMIM:252011
Multiple Mitochondrial Dysfunctions Syndrome 6
Hearing impairment, Optic disc pallor OMIM:617954
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen, Pigmentary retinopathy, Macroti... ORPHA:90321
Childhood-Onset Spasticity With Hyperglycinemia
Nonketotic hyperglycinemia, Optic atrophy, Irritability ORPHA:401866
Infantile Bartter Syndrome With Sensorineural Deafness
Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin level, Emotional ... ORPHA:89938
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Optic atrophy, Hyperalaninemia OMIM:245349
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Irritability OMIM:618226
Behr Syndrome
Optic atrophy OMIM:210000
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Optic atrophy, Protruding ear, Interictal epileptiform activity OMIM:618737
Legionnaires Disease
Hyponatremia ORPHA:549
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Cryptorchidism, Hypoammonemia, Hypercholesterolemia, Azoospermia, Chorioretinal... ORPHA:534
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Congenital Disorder Of Glycosylation, Type Ix
Scrotal hypoplasia, Cryptorchidism, Optic atrophy, Micropenis OMIM:615597
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Elevated circulating creatinine con... ORPHA:411634
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Papilledema, Pulsatile tinnitus ORPHA:238624
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Optic atrophy, Cognitive impairment, Dementia OMIM:250950
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Pachydermoperiostosis
Osteoporosis, Osteolysis, Abnormal cortical bone morphology, Limitation of joint mobility, Osteom... ORPHA:2796
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Peripheral axonal neuropathy, Abnormality of the pinna OMIM:615809
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Optic atrophy OMIM:618238
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Spastic Paraplegia Type 7
Memory impairment, Optic atrophy, Optic disc pallor ORPHA:99013
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cryptorchidism, Congenital stationary night blindness, Primary amenorrhea, Insulin-resistant diab... ORPHA:293967
Infant Botulism
Hyponatremia ORPHA:178478
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Distal Monosomy 13Q
Cognitive impairment, Primary adrenal insufficiency, Optic atrophy, Ambiguous genitalia ORPHA:1590
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Cholelithiasis, Retinal degeneration OMIM:214980
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Irritability, Optic disc pallor, Hypsarrhythmia OMIM:619076
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Sensorineural hearing impairment, Optic atrophy, Diabetes mellitus ORPHA:49827
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Optic atrophy, Septo-optic dysplasia ORPHA:1528
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Mild neurosensory he... OMIM:601152
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mildly elevated creatine kinase, Emotional lability, Sensory axonal neuropathy, Facial palsy, Ele... OMIM:258450
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Spastic Paraplegia 35, Autosomal Recessive
Optic atrophy, Mental deterioration OMIM:612319
Leber Optic Atrophy And Dystonia
Optic atrophy, Dementia, Leber optic atrophy OMIM:500001
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Hypouricemia, ... ORPHA:1187
Madras Motor Neuron Disease
Sensorineural hearing impairment, Tinnitus, Facial palsy, Optic atrophy ORPHA:137867
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypercholesterolemia, Primary adrenal insufficiency, Psychomotor deterioration, Hyp... ORPHA:275761
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Hypsarrhythmia, Decreased serum insulin-like growth factor 1, Optic disc pallor, ... ORPHA:314389
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Low-set, posteriorly rotated ears, Scrotal hypoplasia, Abnormality of the helix, ... ORPHA:1970
Infantile Refsum Disease