Gene: Dpp3 MGI:1922471

Gene Summary

Name:

dipeptidylpeptidase 3

Synonyms:

4930533O14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating total protein level	Dpp3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.56×10^-06
abnormal optic disk morphology	Dpp3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.55×10^-06
decreased circulating serum albumin level	Dpp3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.34×10^-05

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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.

Human diseases associated with Dpp3 (0 diseases)
Human diseases predicted to be associated with Dpp3 (697 diseases)

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	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

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