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Gene: Dpp3 MGI:1922471

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Gene Summary

Name:
dipeptidylpeptidase 3
Synonyms:
4930533O14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Dpp3tm1b(EUCOMM)Hmgu HOM   Early adult 2.94×10-07

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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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
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
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia, O... ORPHA:100024
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis ORPHA:158014
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Hyaline Fibromatosis Syndrome
Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur... OMIM:228600
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... 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, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology ORPHA:2028
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... ORPHA:2774
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Optic Atrophy 14
Optic disc pallor OMIM:620550
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Abnormal epiphysis morphology, Premat... ORPHA:85435
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Ollier Disease
Anemia, Joint stiffness, Abnormal metaphysis morphology, Osteolysis ORPHA:296
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Weight l... ORPHA:324964
Ramon Syndrome
Failure to thrive, Osteolysis ORPHA:3019
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Aggressive Systemic Mastocytosis
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachydactyly, Clinodac... ORPHA:137834
Classic Hodgkin Lymphoma
Splenomegaly, Weight loss, Osteolysis ORPHA:391
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Brachydactyly, Osteoarthritis, Tarsal synostosis, Abnormal metaphy... ORPHA:1657
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Calvar... ORPHA:52430
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Neut... OMIM:612852
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Abnormal shoulder morphology, Localized osteoporosis, Abnormal hip ... ORPHA:66627
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Infantile Myofibromatosis
Limitation of joint mobility, Abnormal metaphysis morphology, Osteolysis, Bone cyst ORPHA:2591
Felty Syndrome
Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Weight los... ORPHA:47612
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... ORPHA:371428
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, He... ORPHA:77259
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal tibia morphology, Cortical irregularity, Abnormal pelvis bone mor... ORPHA:249
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow mov... OMIM:614008
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy OMIM:309555
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Osteol... ORPHA:2796
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Diastrophic Dysplasia
Ulnar deviation of finger, Short finger, Irregular epiphyses, Genu valgum, Hip contracture, Hitch... OMIM:222600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Abnormal femur morphology, Splenomeg... ORPHA:464329
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto... OMIM:615010
Merrf
Optic atrophy ORPHA:551
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Short 4th metacarpal, Short long bone, S... OMIM:118651
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F... OMIM:600081
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis ORPHA:220393
Mucolipidosis Type Iii Alpha/Beta
Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis ORPHA:423461
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Limitation of joint mobility, Acroosteolysis of distal phalanges ... ORPHA:90153
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb... OMIM:618728
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short... ORPHA:198
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Weight loss, Anemia, Increased bone mineral density... ORPHA:35687
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Achondrogenesis Type 2
Hypoplastic ilia, Absent vertebral body mineralization, Delayed pubic bone ossification, Delayed ... ORPHA:93296
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Acroosteolysis of distal phalanges... ORPHA:90154
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Increased circulating antibody... ORPHA:77261
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero... ORPHA:540
Mixed Connective Tissue Disease
Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis ORPHA:809
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Osteopenia, Coarse metaphyseal trabecularization, Short toe, Fail... ORPHA:955
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F... OMIM:241530
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma... ORPHA:793
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
H Syndrome
Osteolysis, Microcytic anemia, Hepatosplenomegaly, Hallux valgus, Camptodactyly, Histiocytosis, R... ORPHA:168569
Odontochondrodysplasia 1
Metaphyseal cupping, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges... OMIM:184260
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Hypochondroplasia
Flared metaphysis, Trident hand, Limited elbow extension, Brachydactyly, Short long bone, Cranios... OMIM:146000
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Papillon-Lefèvre Syndrome
Arachnodactyly, Recurrent cutaneous abscess formation, Osteolysis, Liver abscess ORPHA:678
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Coccidioidomycosis
Granuloma, Osteomyelitis, Abnormality of the spleen, Abnormal long bone morphology, Abscess, Eosi... ORPHA:228123
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Limited hip movement, S... ORPHA:93346
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Joint stiffness, Genu valgum, Hepatosplenomegaly, Pancytopenia,... ORPHA:309282
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:277440
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... ORPHA:178320
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Genu valgum, Small epiphyses, Hip contracture, Joint hypermobility, Truncal obesity, Fla... OMIM:618363
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Brachydactyly, Short long bone, Metaphyseal widening, Squar... OMIM:618961
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Gaucher Disease
Splenic infarction, Osteopenia, Pathologic fracture, Osteomyelitis, Joint stiffness, Recurrent fr... ORPHA:355
Sweet Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L... ORPHA:3243
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis, Ost... ORPHA:464321
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short toe, Genu valgum, Limited elbow extension, Irregular epiphyses of... OMIM:614078
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Absent hand, Eosinophilia, Spina... ORPHA:464
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Thrombocytopenia, R... OMIM:263700
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Joint hypermobility, Adducted thumb, Short long bone, Advanced ossification of c... OMIM:620269
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta... ORPHA:457395
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Fail... ORPHA:289157
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbow extension,... OMIM:608728
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Wide distal femoral metaphysis, Iliac crest... OMIM:613320
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal... OMIM:102370
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Recurrent fractures, Decreased calvarial ossification, Bowing of the long bones, Join... OMIM:616229
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Narrow iliac wing, Anemia, Flexion contracture, Bone cyst, Osteolysis ORPHA:3042
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... ORPHA:93352
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phal... OMIM:608612
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm... ORPHA:79277
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Osteolysis ORPHA:1546
Hepatoerythropoietic Porphyria
Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis ORPHA:95159
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... ORPHA:1215
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteopenia, Elbow flexion contracture, Progressive clavicular acr... OMIM:248370
Chikungunya
Periostitis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Joint hypermobil... OMIM:615777
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Dumbbell-shaped femur, Abnormality of the e... ORPHA:485
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Dysplasia of the f... ORPHA:94068
Gillessen-Kaesbach-Nishimura Syndrome
Decreased skull ossification, Narrow greater sciatic notch, Short long bone, Metaphyseal widening... OMIM:263210
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Aniridia 2
Optic atrophy OMIM:617141
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Pate... ORPHA:221016
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Tapered phal... OMIM:611717
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Thrombocytopenia, Camptodactyly, Short long bone OMIM:619751
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Pate... ORPHA:221008
Psoriasis-Related Juvenile Idiopathic Arthritis
Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Sacroiliac arthriti... ORPHA:85436
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Joint hyper... OMIM:250420
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck OMIM:602152
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Achondroplasia
Hip joint hypermobility, Obesity, Trident hand, Limited elbow extension, Knee joint hypermobility... ORPHA:15
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Decreased cranial base ossification, Dumbbe... OMIM:151210
Zygomycosis
Splenic abscess, Brain abscess, Osteolysis, Neutropenia ORPHA:73263
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplastic ilia, Hypoplastic acetabulae, Broad femoral neck, Failure to th... ORPHA:239
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Pathologic fracture, Hip contracture, Knee flexion contracture, ... OMIM:156400
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Broad long bones, Bowing of the long... OMIM:224400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Hypop... OMIM:271640
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Limitation of joint mobility, Clinodactyly, Upper limb undergrowt... ORPHA:93315
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck,... OMIM:611209
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced tarsal ossification, Dumbbell-shaped long bone, Brachydactyly, Sho... OMIM:269250
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Clubbing, Reduce... OMIM:301220
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating in... ORPHA:391487
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Salmonella osteomyelitis ORPHA:319552
Alg12-Cdg
Failure to thrive, Sandal gap, Abnormal circulating IgM level, Overlapping fingers, Complete or n... ORPHA:79324
Aregenerative Anemia
Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv... ORPHA:101096
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Stuve-Wiedemann Syndrome 1
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... OMIM:601559
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Genu valgum, Bowin... ORPHA:321
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Multiple Endocrine Neoplasia Type 1
Weight loss, Reduced bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:652
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Recurrent fractures, Splenic cyst, ... OMIM:618188
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Neutropenia, Short foot,... ORPHA:93357
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
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Osteopenia, Flared metaphysis, Dislo... OMIM:616007
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... ORPHA:93316
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
17Q11 Microdeletion Syndrome
Osteopenia, Thickened cortex of long bones, Diaphyseal dysplasia, Leukemia, Osteoporosis, Osteoly... ORPHA:97685
Campomelic Dysplasia
Small abnormally formed scapulae, Tracheomalacia, Femoral bowing, Recurrent fractures, Tibial bow... ORPHA:140
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Joint ... ORPHA:2502
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Short toe... OMIM:250220
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho... OMIM:215150
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphysis, Short 5t... OMIM:618019
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... ORPHA:1190
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long b... OMIM:228520
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Osteolysis, Joint hypermobility, Arachnodactyly, Osteoarthritis, Hi... ORPHA:285
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Metaphyseal widening, Short long b... OMIM:614524
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Increased circulating interleukin 6 concentration, ... ORPHA:544482
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Limitation of joint mobility, Carpal b... OMIM:252500
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Sclerosis of... ORPHA:3003
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Abnormal epiphysis morphology, Metaphyseal spurs, Flared metap... ORPHA:85167
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavicles, Short long bo... ORPHA:370930
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... OMIM:114290
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... ORPHA:263479
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Cortical irregularity, Bowing of the long bones, Prominent coccyx,... OMIM:249420
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Carpal bone hypo... OMIM:252600
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Small for gestational age ORPHA:69665
Atypical Werner Syndrome
Limitation of joint mobility, Failure to thrive, Finger clinodactyly, Sclerosis of hand bone, Pro... ORPHA:79474
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal cupping, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing, Tibial bow... OMIM:608940
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Bicoronal synostosis, Joint hypermobility, Brachydactyly, Short long bone, Trach... OMIM:619184
Geleophysic Dysplasia 1
Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with rounded ... OMIM:231050
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Failure... OMIM:256040
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Broad metacarpals, Flared metaphysis, Broad long ... OMIM:271665
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... ORPHA:1106
Peripartum Cardiomyopathy
Anemia, Obesity, Increased circulating interferon-gamma concentration ORPHA:563
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Fibular hypoplasia,... OMIM:616300
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited wrist movement, Progressive clavicular acroosteolysis, Join... ORPHA:740
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Decreased calvarial... OMIM:617925
Norrie Disease
Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment OMIM:310600
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteolysis, Osteoarthritis, Joint hypermobility ORPHA:286
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,... OMIM:615503
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Myhre Syndrome
Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Short finger, Radia... OMIM:139210
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Schistocytosis, Thrombocytopenia, ... OMIM:301110
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Congenital stationary night blindness ORPHA:293967
Cog1-Cdg
Osteopenia, Failure to thrive, Hepatosplenomegaly, Short long bone, Flat acetabular roof, Coxa valga ORPHA:263508
Sympathetic Ophthalmia
Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente... ORPHA:79098
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... ORPHA:51
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
Abnormal optic disc morphology, Facial palsy, Optic nerve hypoplasia, Retinal coloboma 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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