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 2.73×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 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 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Increased circulating... ORPHA:100024
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia ORPHA:158014
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... OMIM:228600
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... ORPHA:2774
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Optic Atrophy 6
Optic atrophy OMIM:258500
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Ollier Disease
Abnormal metaphysis morphology, Osteolysis, Anemia, Joint stiffness ORPHA:296
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... ORPHA:324964
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Ramon Syndrome
Failure to thrive, Osteolysis ORPHA:3019
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... ORPHA:93160
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Tenosynovial Giant Cell Tumor
Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shoulder morphology, Abnormal... ORPHA:66627
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal metaphysis... ORPHA:1657
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl... ORPHA:137834
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis, Weight loss ORPHA:391
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... ORPHA:52430
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... ORPHA:77259
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... OMIM:602080
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Osteomyelitis, Failure to thrive in infancy, Abscess, Splenomegaly, Per... OMIM:612852
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemia, Arthritis... ORPHA:47612
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... ORPHA:249
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Small hand, Osteoporosis, Clubbing of ... ORPHA:2796
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Merrf
Optic atrophy ORPHA:551
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:600081
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... ORPHA:464329
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis ORPHA:220393
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short 4th metacarpal, S... OMIM:118651
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... ORPHA:90153
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Osteolysis, Osteolytic defects of the distal phalanges of the hand... ORPHA:90154
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho... ORPHA:35687
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Mixed Connective Tissue Disease
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis ORPHA:809
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... ORPHA:93296
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:241530
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Hajdu-Cheney Syndrome
Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Recurr... ORPHA:955
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
H Syndrome
Hallux valgus, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodact... ORPHA:168569
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, Flat acetabular roof, Cone-s... OMIM:184260
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis ORPHA:678
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... OMIM:609616
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... OMIM:618363
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... ORPHA:309282
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Coccidioidomycosis
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Abnormal long bone m... ORPHA:228123
Gaucher Disease
Osteopenia, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joi... ORPHA:355
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Patent ductus arteriosus, Short long bo... OMIM:618961
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... ORPHA:3474
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me... ORPHA:93346
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Coronal craniosynos... OMIM:614078
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Incontinentia Pigmenti
Finger syndactyly, Eosinophilia, Camptodactyly of finger, Absent hand, Osteolysis, Deviation of f... ORPHA:464
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... ORPHA:3243
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Advanced ossification of carpal bones, Short long bone, Small epiphyses... OMIM:620269
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... OMIM:263700
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Familial Dysautonomia
Osteolysis, Recurrent fractures ORPHA:1764
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Wide distal femoral metaphysis, Delayed epiphys... OMIM:613320
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Decreased circulating total Ig... OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... OMIM:608612
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Flexion contracture, Bone cyst, Osteolysis, Narrow iliac wing, Anemia ORPHA:3042
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... ORPHA:93352
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Flexion contracture, Elbow flexi... OMIM:248370
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Small for gestational age, Recurrent fra... OMIM:616229
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia ORPHA:95159
Cryptococcosis
Lymphoid leukemia, Osteolysis, Osteomyelitis ORPHA:1546
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Chikungunya
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... ORPHA:324625
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... ORPHA:221016
Desbuquois Dysplasia 2
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Met... OMIM:615777
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Small for ges... ORPHA:221008
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Metaphyseal widening, Flexion contracture, Short long bone, Narrow greate... OMIM:263210
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplastic anemia, Small f... ORPHA:2909
Hypochondroplasia
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... OMIM:146000
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde... ORPHA:94068
Aniridia 2
Optic atrophy OMIM:617141
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Psoriasis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Generalized morning stiffness, Limitation of joint mobility, Oligoarthritis, E... ORPHA:85436
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Rhyns Syndrome
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly OMIM:602152
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... OMIM:611717
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... OMIM:250420
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide anterior font... ORPHA:15
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion... OMIM:156400
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... OMIM:151210
Zygomycosis
Brain abscess, Splenic abscess, Osteolysis, Neutropenia ORPHA:73263
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat... ORPHA:93315
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Metaphyseal widening, Limitation of joint mobility, A... OMIM:224400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... OMIM:271640
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Greenberg Dysplasia
Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi... OMIM:215140
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... OMIM:300106
Alg12-Cdg
Sandal gap, Proximal placement of thumb, Abnormal circulating IgA level, Partial absence of speci... ORPHA:79324
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Short lo... OMIM:200610
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Weight loss, Osteolysis, Reduced bone mineral density ORPHA:652
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Patent ductus arteriosus, Femora... OMIM:618188
Stuve-Wiedemann Syndrome 1
Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Cl... OMIM:601559
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Leukemia, Thicken... ORPHA:97685
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... ORPHA:1652
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... ORPHA:93357
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Joint hypermobility, Tapered finger, Delayed epiphyseal o... OMIM:616007
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... ORPHA:93316
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Hypermobile Ehlers-Danlos Syndrome
Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility ORPHA:285
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Flexion contracture, Flared metaphysis, Premature osteo... OMIM:215150
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Postaxial polydactyly, Limited elbow movement, Asplenia, Short th... ORPHA:221120
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Geleophysic Dysplasia 1
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... OMIM:231050
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Hyposegmentation of neutrophil... OMIM:618019
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fibula morpholog... ORPHA:1190
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... ORPHA:3003
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Limitation... OMIM:252500
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Leukocytosis,... ORPHA:544482
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic atrophy, Optic neuropathy OMIM:618249
Frank-Ter Haar Syndrome
Short palm, Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Fl... OMIM:249420
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Failure to thrive, Rocker bottom foot, Li... ORPHA:79474
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Metatarsus adductus, Wid... OMIM:271665
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial polydactyly, Flat ... OMIM:616300
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Coxa valga, Limited wrist movement, Osteoarthr... ORPHA:740
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pubic bone, Fibu... OMIM:617925
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Vascular Ehlers-Danlos Syndrome
Joint hyperflexibility, Osteoarthritis, Congenital hip dislocation, Osteolysis ORPHA:286
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology ORPHA:293967
Cog1-Cdg
Osteopenia, Coxa valga, Flat acetabular roof, Hepatosplenomegaly, Short long bone, Failure to thrive ORPHA:263508
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Facial palsy 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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