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
abnormal optic disk morphology Dpp3tm1b(EUCOMM)Hmgu HOM   Early adult 2.78×10-06
decreased circulating total protein level Dpp3tm1b(EUCOMM)Hmgu HOM Early adult 1.85×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolys... ORPHA:100024
Optic Atrophy 5
Optic atrophy OMIM:610708
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Rosaï-Dorfman Disease
Anemia, Osteolysis, Dysgammaglobulinemia ORPHA:158014
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... ORPHA:970
Hyaline Fibromatosis Syndrome
Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion... OMIM:228600
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Bowing of the long bones, Thin bony cortex OMIM:174810
Juvenile Hyaline Fibromatosis
Joint stiffness, Abnormal diaphysis morphology, Osteolysis, Progressive flexion contractures ORPHA:2028
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy OMIM:617087
Osteosarcoma
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... ORPHA:668
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Gorham-Stout Disease
Abnormality of femur morphology, Abnormal bone ossification, Abnormality of finger, Osteomyelitis... ORPHA:73
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Cachexia, Camptodactyly of finger, Slender long bone, Abnormal epip... ORPHA:2774
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Dermatoosteolysis, Kirghizian Type
Split hand, Osteolysis, Joint contracture of the hand, Flexion contracture OMIM:221810
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Ollier Disease
Abnormal metaphysis morphology, Anemia, Osteolysis, Joint stiffness ORPHA:296
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Arthritis, Abnormal epiphysis morphology, Osteolysis, Hyperostosis, Craniofacial o... ORPHA:324964
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Ramon Syndrome
Failure to thrive, Osteolysis ORPHA:3019
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Elevated circulating creatine kinase concentration, Cone dystrophy OMIM:268040
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased level of D-threitol in plasma, Elevated circulating ribitol concentration OMIM:608611
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Genu varum, Abnormal ... ORPHA:93160
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Tenosynovial Giant Cell Tumor
Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shoulder morphology, Localize... ORPHA:66627
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Optic Atrophy 6
Optic atrophy OMIM:258500
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm... ORPHA:98850
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Brachydactyly, Osteolysis, Tarsal synostosis, Abnormal metaphysis morphology, Abn... ORPHA:1657
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Frank-Ter Haar Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Abnormal... ORPHA:137834
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... OMIM:271530
Classic Hodgkin Lymphoma
Weight loss, Osteolysis, Splenomegaly ORPHA:391
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Abnormal long bone morphology, Osteolysis, Increased... ORPHA:52430
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia OMIM:616859
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused cervical verte... OMIM:612852
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis, Weight loss, Synovitis, Neut... ORPHA:47612
Gaucher Disease Type 1
Increased circulating antibody level, Increased bone mineral density, Splenomegaly, Osteopenia, L... ORPHA:77259
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the long bones, Osteolysis, Bo... OMIM:602080
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthr... ORPHA:371428
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Optic Atrophy 9
Optic atrophy OMIM:616289
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Irregular epiphyses, ... OMIM:222600
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Fibrous dysplasia of the bones, Abnormal morphology o... ORPHA:249
Omenn Syndrome
Hypoproteinemia OMIM:603554
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal dysplasia OMIM:613154
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Gamma-Heavy Chain Disease
Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, ... ORPHA:100026
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Small hand, Osteoporosis, Genu varum, Arthritis, Osteolysis, Abnorma... ORPHA:2796
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... OMIM:600081
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Flared metaphysis, Elbo... OMIM:601561
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Failure to thrive, Flexion contracture, Osteoporosis, Limited elbow movement, Pr... OMIM:614008
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 3rd metacarpal, Short 2nd metacarpal, Short 4th metacarpal, Short long bone, E... OMIM:118651
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Rod-cone d... OMIM:311070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Advanced ossification of carpal bones, Flattened epiphysis, Short femoral neck, ... OMIM:618363
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Hepatosplenomegaly, A... ORPHA:464329
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy OMIM:619389
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity ORPHA:104
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Flexion contracture, Narrow foramen obturatorium, Arthritis ORPHA:220393
Merrf
Optic atrophy ORPHA:551
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Osteolysis, Ankylosis ORPHA:659
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), O... ORPHA:90153
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... ORPHA:198
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Abnormal fingertip morphology, Acroosteolysis of distal phalanges... ORPHA:90154
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Gaucher Disease Type 3
Increased circulating antibody level, Increased bone mineral density, Splenomegaly, Osteolysis, I... ORPHA:77261
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... OMIM:241530
Sapho Syndrome
Recurrent fractures, Osteomyelitis, Arthritis, Osteolysis, Hyperostosis, Craniofacial osteosclero... ORPHA:793
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Abnormal epiphysis morphology, Osteolysis, Weight ... ORPHA:35687
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Hypoplastic ilia, A... ORPHA:93296
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... OMIM:251270
Mixed Connective Tissue Disease
Joint stiffness, Splenomegaly, Leukopenia, Arthritis, Hemolytic anemia, Osteolysis ORPHA:809
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Flared elbow metaphyses, Short long bone ORPHA:1423
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Recurrent fractures, Short toe, Failure to thrive, Splenomegaly, ... ORPHA:955
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Chromomycosis
Osteolysis, Ankylosis ORPHA:182
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Subperiosteal ... OMIM:264700
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Pierson Syndrome
Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal detachment, Retinal hemorrhage,... OMIM:609049
H Syndrome
Histiocytosis, Recurrent fractures, Hepatosplenomegaly, Camptodactyly, Osteolysis, Hallux valgus,... ORPHA:168569
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Papillon-Lefèvre Syndrome
Arachnodactyly, Osteolysis, Liver abscess, Recurrent cutaneous abscess formation ORPHA:678
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Decreased nerv... ORPHA:167
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Irregular femoral epiphysis, Genu varum, Upper-l... OMIM:618728
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... OMIM:300554
Gaucher Disease
Increased circulating antibody level, Joint stiffness, Osteomyelitis, Recurrent fractures, Increa... ORPHA:355
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Coccidioidomycosis
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level,... ORPHA:228123
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Brachydactyly, Patent ductus arteriosus, Coarse metaphyseal trabecularizati... OMIM:618961
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Subperiosteal ... OMIM:277440
Alpha-Mannosidosis, Infantile Form
Joint stiffness, Cortical thickening of long bone diaphyses, Craniosynostosis, Osteopenia, Hepato... ORPHA:309282
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Abnormal epiphysis morphology... ORPHA:3474
Null Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... ORPHA:280234
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic disc hypoplasia, ... ORPHA:137902
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Flare... ORPHA:93346
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the lower limbs, Osteolysis, Thrombocytopenia, Ost... ORPHA:464321
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemolytic anemia, O... OMIM:263700
Incontinentia Pigmenti
Absent hand, Eosinophilia, Camptodactyly of finger, Deviation of finger, Spina bifida occulta, Os... ORPHA:464
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Osteopetrosis, De... OMIM:612301
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, Decreased nerve conduction velocity, Sensory axon... ORPHA:457205
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Sarcosinemia
Optic atrophy, Hypersarcosinemia ORPHA:3129
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Leber Optic Atrophy
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy OMIM:535000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Decreased cranial base ossification, Hypoplastic ilia, Hypoplastic pubic bon... OMIM:151210
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... ORPHA:98977
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/... OMIM:113000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Flexion contracture, Acroosteolysis of distal phalanges (feet), Short phalanx of... OMIM:608612
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Narrow iliac wing, Anemia ORPHA:3042
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Peripheral axonal neuropathy, Mildly elevated creatine kinase ORPHA:401768
Congenital Erythropoietic Porphyria
Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi... ORPHA:79277
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Chikungunya
Joint stiffness, Periostitis, Arthritis, Osteolysis, Enthesitis, Stiff interphalangeal joints, Sy... ORPHA:324625
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Joint stiffness, Short clavicles, Flexion contracture, Osteopenia... OMIM:248370
Hepatoerythropoietic Porphyria
Splenomegaly, Osteopenia, Osteoporosis, Hemolytic anemia, Osteolysis, Erythroid hyperplasia ORPHA:95159
Encephalocraniocutaneous Lipomatosis
Bone cyst, Osteolysis, Craniofacial hyperostosis ORPHA:2396
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Bowing of the legs, Metaphyseal wideni... ORPHA:93352
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Small for gestational age, Osteopenia, Decreased calvarial ossification, Ang... OMIM:616229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Cryptococcosis
Osteomyelitis, Osteolysis, Lymphoid leukemia ORPHA:1546
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hyperammonemia OMIM:618253
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Oligoarthritis, Finger dactylitis, Abnormal shoul... ORPHA:85436
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Acetabular spurs, Metaphyseal s... ORPHA:1505
Rothmund-Thomson Syndrome Type 2
Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Osteopenia, Synostosis involv... ORPHA:221016
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Short clavicles, Toe clinodactyly, S... OMIM:615777
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Abnormal retinal nerve fiber lay... ORPHA:1215
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Osteopenia, Aplastic anemia, ... ORPHA:221008
Kniest Dysplasia
Abnormality of the epiphysis of the femoral head, Delayed epiphyseal ossification, Joint stiffnes... ORPHA:485
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic neuropathy, Optic atrophy OMIM:618249
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... ORPHA:94068
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Rothmund-Thomson Syndrome
Reduced bone mineral density, Small for gestational age, Osteopenia, Broad ulna, Aplasia/Hypoplas... ORPHA:2909
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Narrow greater sciatic notch, Short long bone, Flexion contracture, Metap... OMIM:263210
Achondrogenesis, Type Ii
Short tubular bones of the hand, Absent vertebral body mineralization, Hypoplastic iliac wing, Br... OMIM:200610
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Short long bone, Flexion contracture, Brachydactyly, ... OMIM:611717
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Coxa vara, Failure to thrive, Abnormal hip bone morp... ORPHA:239
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Wildervanck Syndrome
Facial palsy, Pseudopapilledema ORPHA:3456
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Osteopenia, Pathologic frac... OMIM:156400
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Hyperuricemia ORPHA:2801
Achondroplasia
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... ORPHA:15
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, M... OMIM:250420
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Decreased serum iron... OMIM:616959
Zygomycosis
Splenic abscess, Osteolysis, Brain abscess, Neutropenia ORPHA:73263
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Metaphyseal irregularity, Tibial bowing, Abnormal bone ossificati... ORPHA:93315
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Short long bone, ... OMIM:271640
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... ORPHA:320406
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Brachydactyly, Hypoplastic scapu... OMIM:269250
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Aniridia 2
Optic atrophy OMIM:617141
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Limitation of joint mobility, Joint contracture of the han... OMIM:224400
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Greenberg Dysplasia
Anterior rib punctate calcifications, Tetraphocomelia, Fractured rib, Short long bone, Epiphyseal... OMIM:215140
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormal bone structure, Abnormalit... ORPHA:321
Leptospirosis
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... ORPHA:509
Sponastrime Dysplasia
Genu valgum, Hip subluxation, Small epiphyses, Short long bone, Metaphyseal irregularity, Ivory e... ORPHA:93357
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Dent Disease
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Bowing of the ... ORPHA:1652
Multiple Endocrine Neoplasia Type 1
Weight loss, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density ORPHA:652
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Dislocation of the femoral head, Delayed epiphyseal ossification, Metaphyseal irregularity, Flexi... OMIM:616007
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated alpha-fetoprotein, Optic atrophy, Mildly elevated creatine kinase ORPHA:95433
17Q11 Microdeletion Syndrome
Bowing of the legs, Osteopenia, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Thickened cortex ... ORPHA:97685
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Short metacarpal, Flexion contracture, Flared metaphysis, Short phalanx of ... OMIM:215150
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Delayed epiphyseal ossification, Cone-shaped epiphyses of the p... OMIM:250220
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Osteoarthritis, Osteolysis, Hip dislocation, Joint hyperflexibility ORPHA:285
Pseudoaminopterin Syndrome
Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly, Clinodactyly... ORPHA:221120
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Shallow... OMIM:252600
Geleophysic Dysplasia 1
Joint stiffness, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly of finger, ... OMIM:231050
Pyknoachondrogenesis
Sclerosis of skull base, Abnormal iliac wing morphology, Poorly ossified vertebrae, Hypoplastic i... ORPHA:3003
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Mucolipidosis Ii Alpha/Beta
Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... OMIM:252500
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Brachydactyly, Absent or ... ORPHA:1190
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal irregularity, Metaphyseal dysplasia, Metaphyseal cupping, Radial bowing, Femoral bowi... OMIM:618019
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Brain abscess, Hemolytic anemia,... ORPHA:544482
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, Bowing of the long bone... OMIM:114290
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Retinopathy, Optic neuropathy, Axonal degeneration OMIM:616811
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Frank-Ter Haar Syndrome
Wide anterior fontanel, Osteopenia, Flared metaphysis, Osteoporosis, Short phalanx of finger, Cam... OMIM:249420
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Increased bone mineral density, Reduced bone mineral de... ORPHA:79474
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... OMIM:271665
Hutchinson-Gilford Progeria Syndrome
Joint stiffness, Short clavicles, Limitation of movement at ankles, Reduced bone mineral density,... ORPHA:740
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Synostosis... ORPHA:1106
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... OMIM:617925
Hyperoxaluria, Primary, Type I
Optic neuropathy, Retinopathy, Optic atrophy, Hyperoxaluria, Choroidal neovascularization, Retina... OMIM:259900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Postaxial polydactyly, Preaxial polydactyly, F... OMIM:613091
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility ORPHA:286
Norrie Disease
Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold OMIM:310600
Idiopathic Anterior Uveitis
Macular edema, Increased cup-to-disc ratio ORPHA:280914
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Retinal calcification, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hyperoxaluria, Rod-cone dystrophy OMIM:601539
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal optic disc morphology ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology ORPHA:293967
Cog1-Cdg
Failure to thrive, Osteopenia, Hepatosplenomegaly, Flat acetabular roof, Coxa valga, Short long bone ORPHA:263508
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Abnormal optic disc morphology, Retinal dystrophy ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology ORPHA:508498
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology ORPHA:96121

Histopathology

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

There is no histopathology data for Dpp3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dpp3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dipeptidyl peptidase 3 modulates the renin-angiotensin system in mice. The Journal of biological chemistry (June 2020) Dpp3tm1a(EUCOMM)Hmgu PMC7535908
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (September 2019) Dpp3tm1c(EUCOMM)Hmgu Dpp3tm1a(EUCOMM)Hmgu Dpp3tm1d(EUCOMM)Hmgu PMC7203631

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dpp3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dpp3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Dpp3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dpp3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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