Gene Summary

Name:
dipeptidylpeptidase 3
Synonyms:
4930533O14Rik

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
decreased circulating total protein level Dpp3tm1b(EUCOMM)Hmgu HOM Early adult 9.56×10-06
abnormal optic disk morphology Dpp3tm1b(EUCOMM)Hmgu HOM   Early adult 3.55×10-06
decreased circulating serum albumin level Dpp3tm1b(EUCOMM)Hmgu HOM   Early adult 9.34×10-05

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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.

Phenotype associated images not available

Human diseases caused by Dpp3 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 Dpp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss, Abnormal B cell coun... ORPHA:100024
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Peripheral axonal neuropathy, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia ORPHA:158014
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone morp... ORPHA:970
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Optic Atrophy 2
Optic atrophy OMIM:311050
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Optic Atrophy 5
Optic atrophy OMIM:610708
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia OMIM:228600
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement ORPHA:57196
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Hypoproteinemia ORPHA:1116
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex, Bowing of the long bones OMIM:174810
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness, Abnormal diaphysis morphology ORPHA:2028
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Osteosarcoma
Osteolysis, Weight loss, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphy... ORPHA:668
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Abnormality of epiphysis morphology, Metacarpal osteolysis, ... ORPHA:2774
Ribose 5-Phosphate Isomerase Deficiency
Elevated circulating ribitol concentration, Increased level of D-threitol in plasma, Optic atrophy OMIM:608611
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Dermatoosteolysis, Kirghizian Type
Split hand, Osteolysis, Flexion contracture, Joint contracture of the hand OMIM:221810
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Cone dystrophy, Optic disc pallor OMIM:268040
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Multiple Osteochondromas
Radial bowing, Genu valgum, Osteolysis, Abnormality of tibia morphology, Synostosis of joints, Re... ORPHA:321
Ramon Syndrome
Osteolysis, Failure to thrive ORPHA:3019
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Osteolysis, Abnormality of epiphysis morphology, Craniofaci... ORPHA:324964
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Osteolysis, Flexion contrac... OMIM:614008
Ollier Disease
Abnormality of the metaphysis, Osteolysis, Joint stiffness, Anemia ORPHA:296
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Pseudoachondroplasia
Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finger, Flat ace... ORPHA:750
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Os... ORPHA:93160
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Pigmented Villonodular Synovitis
Localized osteoporosis, Abnormal hip joint morphology, Osteolysis, Joint stiffness, Abnormal shou... ORPHA:66627
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Abnormal acetabulum morphology, Short lon... ORPHA:93308
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Abnormal diaphysis morphology, Abnormality of the metaphysis, Brac... ORPHA:1657
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Peripheral axonal degeneration, Decreased number of large ... OMIM:208920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Pycnodysostosis
Short toe, Osteolysis, Abnormality of epiphysis morphology, Recurrent fractures, Short distal pha... ORPHA:763
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Neutropenia, We... ORPHA:98850
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Abnormality of the metacarpal bones, Joint stiffness, Clinod... ORPHA:137834
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Classic Hodgkin Lymphoma
Osteolysis, Weight loss, Splenomegaly ORPHA:391
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Osteolysis, Pathologic fracture, Increased susceptibility to... ORPHA:52430
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia OMIM:616859
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Optic Atrophy 6
Optic atrophy OMIM:258500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Gaucher Disease Type 1
Osteolysis, Increased circulating antibody level, Increased bone mineral density, Pancytopenia, T... ORPHA:77259
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Infantile Myofibromatosis
Abnormality of the metaphysis, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Felty Syndrome
Osteolysis, Abnormal lymphocyte morphology, Synovitis, Neutropenia, Weight loss, Thrombocytopenia... ORPHA:47612
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Osteolysis, Periostitis, Failure to thrive in infancy, Splenomegaly, Neutrophilia, Osteo... OMIM:612852
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Bowing of the long bones, Increased susceptibility to fractures, Fractures of the lon... OMIM:602080
Omenn Syndrome
Hypoproteinemia OMIM:603554
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Dengue Fever
Hypoproteinemia ORPHA:99828
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Osteolysis involving bon... ORPHA:371428
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Myopathy With Extrapyramidal Signs
Elevated circulating creatine kinase concentration, Optic atrophy, Peripheral axonal neuropathy OMIM:615673
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:613151
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
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
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Abnormality of tibia morphology, Abnormalit... ORPHA:249
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Pachydermoperiostosis
Osteoporosis, Osteomyelitis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical b... ORPHA:2796
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Diastrophic Dysplasia
Costal cartilage calcification, Hitchhiker thumb, Short finger, Irregular epiphyses, Short long b... OMIM:222600
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Delayed epiphyseal ... OMIM:601561
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Optic Atrophy 9
Optic atrophy OMIM:616289
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Recurrent fractures, Tibial... OMIM:600081
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Rheumatoid arthritis, Abnor... ORPHA:100026
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Isolated Oxycephaly
Papilledema ORPHA:63440
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Hypoalbuminemia ORPHA:529799
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Hypochondroplasia
Limited elbow extension, Short long bone, Flared metaphysis, Genu varum, Brachydactyly, Abnormali... OMIM:146000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Short long bone, Truncal obesity, Short femoral neck, Small epiphyses, Flattened epi... OMIM:618363
Pseudoachondroplasia
Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finger, Carpal b... OMIM:177170
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Short tibia, S... OMIM:118651
Camos Syndrome
Optic atrophy ORPHA:83472
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Osteolysis, Abnormality of femur morphology, Abnormality of the isch... ORPHA:464329
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Meta... OMIM:250460
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Leishmaniasis
Hypoalbuminemia ORPHA:507
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Diffuse Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Merrf
Optic atrophy ORPHA:551
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Occipital Horn Syndrome
Large iliac wing, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, Hip dysplasi... ORPHA:198
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia ORPHA:340
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Gaucher Disease Type 3
Osteolysis, Increased circulating antibody level, Increased bone mineral density, Pancytopenia, T... ORPHA:77261
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Osteolysis, Ankylosis ORPHA:659
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Generalized osteosclerosis ORPHA:1423
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Pierson Syndrome
Hypoproteinemia OMIM:609049
Sapho Syndrome
Abnormal sacroiliac joint morphology, Osteolysis, Craniofacial osteosclerosis, Recurrent fracture... ORPHA:793
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Hypophosphatemic rickets, R... OMIM:241530
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Lissencephaly 8
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:617255
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Mixed Connective Tissue Disease
Osteolysis, Hemolytic anemia, Joint stiffness, Leukopenia, Splenomegaly, Arthritis ORPHA:809
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Erdheim-Chester Disease
Osteolysis, Abnormality of epiphysis morphology, Weight loss, Increased bone mineral density, Ane... ORPHA:35687
Chromomycosis
Osteolysis, Ankylosis ORPHA:182
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Abnormality of retinal pigmentatio... ORPHA:167
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Metaphyseal irregularity, Ricke... OMIM:264700
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy OMIM:619323
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Retinal detachme... OMIM:251270
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Abnormal circulating albumin concentration, Abnormal circulating protein conc... ORPHA:86839
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bone, Coxa vara, Genu varum,... OMIM:618728
H Syndrome
Osteolysis, Microcytic anemia, Camptodactyly, Recurrent fractures, Histiocytosis, Hepatosplenomeg... ORPHA:168569
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Chorioretinal hypopigmentation, Hypoalbuminemia OMIM:617303
Hajdu-Cheney Syndrome
Osteoporosis, Short toe, Osteolysis, Joint hyperflexibility, Partial absence of toe, Bowing of th... ORPHA:955
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Delayed ossificati... OMIM:184260
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of carpal bones, Hypoplastic i... OMIM:609616
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Metaphyseal irregularity, Ricke... OMIM:277440
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Hypophosphatemic rickets, R... OMIM:300554
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Papillon-Lefèvre Syndrome
Osteolysis, Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly ORPHA:678
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Patent ductus arteriosus, Coarse metaphyseal trabecularization, Short long b... OMIM:618961
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Increased circulating antibody level, Recurrent f... ORPHA:355
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, Macular dystrophy ORPHA:33445
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... ORPHA:540
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Chime Syndrome
Osteolysis, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the phalanges of the toes,... ORPHA:3474
Coccidioidomycosis
Abnormality of long bone morphology, Osteolysis, Increased circulating IgM level, Broad metatarsa... ORPHA:228123
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Alpha-Mannosidosis, Infantile Form
Genu valgum, Craniosynostosis, Osteolysis, Joint laxity, Hypoplastic inferior ilia, Cortical thic... ORPHA:309282
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Cherubism
Optic atrophy ORPHA:184
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of carpal bones, Limi... ORPHA:93346
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Thrombocytopenia, Pathologic fracture, Joint contracture of the han... OMIM:263700
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia... ORPHA:14
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Sarcosinemia
Hypersarcosinemia, Optic atrophy ORPHA:3129
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, ... ORPHA:137902
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy ORPHA:26792
Sweet Syndrome
Abnormal serum interleukin level, Leukocytosis, Chronic lymphatic leukemia, Abnormality of tumor ... ORPHA:3243
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy OMIM:614702
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Optic neuritis, Sensory axonal neuropathy, Facial palsy, Elevated ci... ORPHA:254886
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short lo... OMIM:608728
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, Abnormal auto... ORPHA:85443
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Incontinentia Pigmenti
Camptodactyly of finger, Absent hand, Osteolysis, Finger syndactyly, Spina bifida occulta, Eosino... ORPHA:464
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Patent ductus arteriosus, Toe c... ORPHA:457395
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Null Syndrome
Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, Optic atrophy, P... ORPHA:280234
Congenital Disorder Of Glycosylation, Type Ia
Rod-cone dystrophy, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Acute Lung Injury
Increased circulating interleukin 6, Abnormality of serum cytokine level, Abnormality of tumor ne... ORPHA:178320
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Optic atrophy, Peripheral axonal neuropathy ORPHA:401768
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormal serum interleukin level, Abnormality of tumor necro... ORPHA:70578
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Orthost... ORPHA:186
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Optic atrophy OMIM:618253
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Dent Disease 1
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Recurrent fractures, Tibial... OMIM:300009
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Rickets, Tibial bowing, Osteomalacia, Increased susceptibility to ... ORPHA:289157
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Short foot, Fifth metacarpal with ulnar notch, Sh... OMIM:102370
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis involving... ORPHA:464321
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy OMIM:618324
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Familial Dysautonomia
Osteolysis, Recurrent fractures ORPHA:1764
Sclerosteosis
Facial palsy, Optic atrophy ORPHA:3152
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Hyperalaninemia, Optic atrophy OMIM:245349
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Sensory axonal neuropathy, Abnormal peripheral action potent... ORPHA:457205
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptodactyly, Aplasia/Hypop... OMIM:113000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bon... OMIM:151210
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Hypoalbuminemia ORPHA:505248
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy OMIM:300983
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Optic Atrophy 1
Optic atrophy OMIM:165500
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Galloway-Mowat Syndrome 1
Optic atrophy, Hypoalbuminemia OMIM:251300
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic neuropathy, Optic atrophy OMIM:618249
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytope... ORPHA:79277
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Osteolysis, Bone cyst, Flexion contracture, Narrow iliac wing, Anemia, Hip contracture ORPHA:3042
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:615042
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, E... ORPHA:289176
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Erythroid hyperplasia, Splenomegaly, Osteopenia ORPHA:95159
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:251900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal widening, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, ... ORPHA:93352
Chikungunya
Osteolysis, Periostitis, Stiff interphalangeal joints, Enthesitis, Synovitis, Joint stiffness, Ar... ORPHA:324625
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy OMIM:617669
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Increased cup... ORPHA:98977
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Decreased circulating IgA lev... OMIM:612301
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy OMIM:274270
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Synostosis i... ORPHA:221016
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic atrophy, Optic disc pallor, Motor axonal neuropathy OMIM:609541
Cryptococcosis
Lymphoid leukemia, Osteolysis, Osteomyelitis ORPHA:1546
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic neuropathy OMIM:535000
Stuve-Wiedemann Syndrome
Osteoporosis, Short phalanx of finger, Flexion contracture of toe, Bowing of the long bones, Addu... OMIM:601559
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Psoriasis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Enthesitis, Abnormality of tumor necrosis factor secretion, Toe dactylitis, Ge... ORPHA:85436
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia ORPHA:2801
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Behr Syndrome
Optic atrophy OMIM:210000
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Desbuquois Dysplasia 2
Metaphyseal widening, Broad thumb, Short phalanx of finger, Joint laxity, Short metacarpal, Coxa ... OMIM:615777
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Neutropenia,... ORPHA:221008
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Retinal detachment ORPHA:1473
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Achondrogenesis, Type Ii
Broad long bones, Absent vertebral body mineralization, Hypoplastic iliac wing, Short long bone, ... OMIM:200610
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Neutropenia, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... ORPHA:2909
Kid Syndrome
Osteolysis, Arthritis ORPHA:477
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Flexion contracture, Short long bone, Decreased skull ossification, Narro... OMIM:263210
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Short phalanx of finger, Tapered metacarpals, Single interphalangeal crease of fifth f... OMIM:611717
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mildly elevated creatine kinase, Sensory axonal neuropathy, Facial palsy, Elevated circulating cr... OMIM:258450
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal widening, Genu valgum, Metaphyseal dysostosis, Joint laxity, Metaphyseal irregularity... OMIM:250420
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:411590
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concen... ORPHA:2298
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Kniest Dysplasia
Dumbbell-shaped femur, Flexion contracture of finger, Enlarged epiphyses, Enlarged metaphyses, Ab... ORPHA:485
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Genu valgum, Limited knee extension, Abnormal pelvis bone morphology, Hy... ORPHA:239
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Metaphyseal cupping,... OMIM:156400
Canavan Disease
Increased circulating N-Acetylaspartic acid concentration, Optic atrophy OMIM:271900
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Optic atrophy, Retinal degeneration OMIM:618329
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Facial palsy, Ab... ORPHA:97229
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Optic dis... ORPHA:644
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Cinca Syndrome
Papilledema, Elevated circulating C-reactive protein concentration OMIM:607115
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy OMIM:270500
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Mildly elevated creatine kinase, Optic atrophy, Elevated alpha-fetoprotein ORPHA:95433
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Optic atrophy ORPHA:588
L-2-Hydroxyglutaric Aciduria
Optic atrophy, L-2-hydroxyglutaric acidemia OMIM:236792
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy OMIM:614877
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibromas ORPHA:2086
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Peripheral axonal neuropathy OMIM:615809
Infantile Refsum Disease
Elevated levels of phytanic acid, Facial palsy, Rod-cone dystrophy, Optic atrophy ORPHA:772
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy OMIM:619057
Childhood-Onset Spasticity With Hyperglycinemia
Nonketotic hyperglycinemia, Optic atrophy ORPHA:401866
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy OMIM:601338
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Wide anterior fontanel, Trident hand, ... ORPHA:15
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy ORPHA:2185
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating creatine kinase concentration, Abnormal macular morphology, Optic atrophy, R... OMIM:608799
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic disc pallor OMIM:617954
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Leptospirosis
Papilledema, Hyperproteinemia, Chorioretinitis, Optic neuritis, Retinal hemorrhage, Macular cotto... ORPHA:509
Optic Atrophy 11
Optic atrophy, Facial diplegia OMIM:617302
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy OMIM:617698
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Metatarsus adductus, Patholog... OMIM:271640
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Optic atrophy ORPHA:289916
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy OMIM:615085
Osteopetrosis, Autosomal Recessive 4
Facial palsy, Optic disc pallor, Optic atrophy OMIM:611490
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Broad long bones, Bowing of the long bones, Short long bone, Joint contracture of ... OMIM:224400
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Optic atrophy OMIM:614707
Sponastrime Dysplasia
Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened humeral epiphyses, Neutropenia... ORPHA:93357
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Joint laxity, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Multiple Carboxylase Deficiency
Hyperammonemia, Optic atrophy ORPHA:148
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy ORPHA:168549
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Facial palsy, Optic atrophy OMIM:616239
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy OMIM:270800
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Glaucoma, Primary Closed-Angle