Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
signal peptide, CUB domain, EGF-like 2
Synonyms:
ICRFP703N2430Q5.1,  4932442O19Rik,  Cegf1,  ICRFP703B1614Q5.1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Scube2 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 Scube2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Disproportionate short-limb s... OMIM:600121
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Joint stiffness, Thickened cort... ORPHA:564003
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Rhizomelic Dysplasia, Ain-Naz Type
Hip dysplasia, Short femoral neck, Hypoplasia of the femoral head, Severe short stature, Rhizomel... OMIM:619598
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Flexion contracture, Hypoplasia of the ulna, Fi... OMIM:200700
Syndactyly Type 4
Toe syndactyly, Foot polydactyly, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Hip os... OMIM:132400
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Genu valgum, Brachydactyly, Flat capital femoral epiphysis, Fle... OMIM:601560
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb... ORPHA:75508
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Severe short sta... ORPHA:3344
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Short stature, Pathologic fracture, Abnormal cortical b... ORPHA:166277
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Intrauterine growth retardation, Fibular hypoplasia, Radial club hand, Sa... ORPHA:1972
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Brachydactyly, Bowing of the long bones, Joint stiffness, Fibular hyp... ORPHA:2098
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Short stature, Limb undergro... ORPHA:2204
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Enlarged epiphyses, Obesity, Osteoporosis, Short stature, Camptodactyly, Joint contra... OMIM:264010
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Mild short stature, Hypopl... OMIM:617719
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Abnormality of... ORPHA:970
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... ORPHA:94068
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short femoral neck, Disproportionate short-trunk short stature, Sclerotic foci of met... OMIM:271530
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... ORPHA:2114
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Severe short stature, Clinodactyly of the 5th ... ORPHA:2635
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Irregular carpal bones, Increased la... ORPHA:750
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Rhizomelia, Dislocated radial head, Micro... ORPHA:166016
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefacti... OMIM:601559
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Pseudoarthrosis, Mesomelic short sta... OMIM:156230
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:241530
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of the knee, Abnorma... ORPHA:1525
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retardation, Dense meta... ORPHA:50811
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Pseudopseudohypoparathyroidism
Brachydactyly, Short 5th metacarpal, Intrauterine growth retardation, Short distal phalanx of the... ORPHA:79445
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Rhizomelia, Flared hu... OMIM:183849
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:264700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flexion contracture, Multiple prenatal fractures, Intrauterine growth retardation, Sh... OMIM:616897
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Osteopenia, Intrauterine... ORPHA:356961
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Flat capital femoral epiphysis, Flattened epiphysis, Flexion contractur... ORPHA:157965
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Bowing of the long bones, Pathologic fracture OMIM:174810
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Genu varum, Epiphyseal stippling, Abnormal bone ossification, Coarse me... ORPHA:1952
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:277440
Atelosteogenesis Type I
Brachydactyly, Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormality of fibula m... ORPHA:1190
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Short tibia, Short femur... OMIM:612447
Ck Syndrome
Slender build, Micrognathia, Joint hypermobility, Abnormal digit morphology, Abnormal cortical bo... OMIM:300831
Short Stature, Brussels Type
Growth delay, Short stature, Microretrognathia, Delayed epiphyseal ossification, Calcification of... ORPHA:2867
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Pes planus, Thin bony cortex, Broad thumb... OMIM:619638
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Micrognathia, Short stature, Slender long bone... ORPHA:1486
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Short femur, Abnormality... ORPHA:1988
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Sparse bone trabeculae, Tibial bowing, Increased susceptib... ORPHA:289157
Dent Disease 1
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Orofaciodigital Syndrome Viii
Short stature, Syndactyly, Short tibia, Polydactyly OMIM:300484
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retardation, Short femo... OMIM:608154
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Short stature, Fibular aplasia, Talipes equinov... OMIM:605274
Microcephaly-Micromelia Syndrome
Craniosynostosis, Intrauterine growth retardation, Absent radius, Oligodactyly, Micrognathia, Mic... OMIM:251230
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Sandal gap, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Spondyloepiphyseal Dysplasia Tarda
Disproportionate short-trunk short stature, Abnormality of the tibial plateaux, Arthralgia of the... ORPHA:93284
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Abnormal foot morphology, Broad femoral n... ORPHA:85184
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Calvarial hyperostosis, Perios... ORPHA:1310
Pelviscapular Dysplasia
Brachydactyly, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Short ... ORPHA:93333
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Joint stiffness, Short greater sciatic notch, Femoral bo... ORPHA:1860
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... ORPHA:73
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Generalized joint laxity... OMIM:609325
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Broad tibial metaphyses, Short femoral neck, Childhood-ons... OMIM:271630
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Autosomal Recessive Primary Microcephaly
Growth delay, Short stature, Abnormal cortical bone morphology ORPHA:2512
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Weismann-Netter Syndrome
Anterior tibial bowing, Severe short stature, Squared iliac bones, Lateral femoral bowing, Calvar... OMIM:112350
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Craniofacial hyperostosis, Cone-shaped epiphyses of the pha... ORPHA:2484
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Pes planus, Sandal gap, Broad femoral n... OMIM:251450
Ollier Disease
Multiple enchondromatosis, Joint stiffness, Micromelia, Abnormality of the metaphysis, Osteolysis... ORPHA:296
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Short stature, Femoral bo... OMIM:615066
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Rhizomelia, Sandal gap, Short ribs, Hypoplasia of the radius, Failure ... OMIM:607143
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Metaphyseal irregularity, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Joint... OMIM:602557
Progressive Pseudorheumatoid Arthropathy Of Childhood
Generalized osteoporosis, Genu varum, Abnormal ilium morphology, Broad femoral neck, Enlarged epi... ORPHA:1159
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Disproportion... OMIM:211350
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Severe short stature, Squared... ORPHA:93314
Ivic Syndrome
Absent thumb, Carpal synostosis, Hypoplasia of the ulna, Limited interphalangeal movement, Upper ... OMIM:147750
Dyschondrosteosis And Nephritis
Short forearm, Ulnar bowing, Mesomelic short stature, Short tibia, Radial bowing OMIM:127350
Proteus Syndrome
Hypertrophy of skin of soles, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Cal... OMIM:176920
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Metaphyseal widening... OMIM:156500
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Laryngotracheomalacia, Epiphyseal stippling ... ORPHA:56305
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short stature, Short tibia, Camptodactyly OMIM:258865
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Decreased body weight, Delayed ossification of carpal bones, T... OMIM:600002
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Short stature, Limb undergrowth, Massively thickened long bone cortices OMIM:122900
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... ORPHA:168549
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Joint laxity, Micrognath... OMIM:617952
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Recurrent fractures, Severe ... OMIM:259420
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Metaphyseal sc... ORPHA:221016
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Growth delay, Short stature, Wide anterior fontanel, Abnormal cortical bon... OMIM:614886
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Sh... OMIM:617925
Bruck Syndrome 2
Flexion contracture, Osteopenia, Increased susceptibility to fractures, Knee flexion contracture,... OMIM:609220
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Metaphyseal sc... ORPHA:221008
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Sh... ORPHA:988
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenatal fractures, S... OMIM:166210
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Small for gestational ag... ORPHA:2909
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Severe short stature, Osteoporosis, Femoral bowing OMIM:126550
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intrauterine growth retardation, Abnormality of fibula morphology, Tibi... ORPHA:3035
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Short metacarpal, Sandal gap, Flared femoral meta... ORPHA:1427
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, S... OMIM:610915
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Disproportionate short stature, Large hand... OMIM:210710
Kniest Dysplasia
Tracheomalacia, Abnormal cartilage collagen, Disproportionate short-trunk short stature, Flared m... OMIM:156550
Stüve-Wiedemann Syndrome
Bowing of the long bones, Flexion contracture, Osteopenia, Recurrent fractures, Intrauterine grow... ORPHA:3206
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Omodysplasia 1
Anterolateral radial head dislocation, Fibular hypoplasia, Rhizomelia, Increased fibular diameter... OMIM:258315
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Amelia OMIM:601357
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Short metacarpal, Abnormal bone structure, Epiphyseal stippling,... ORPHA:86822
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Growth delay, Abnormal trabecular bone morphology OMIM:612301
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Flexion contracture, Joint stiffness, Tibial bo... OMIM:245160
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Short femoral neck, Short metacarpal, Proximal femoral epiphysiolys... OMIM:616723
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Dent Disease
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... ORPHA:1652
Hypophosphatemic Bone Disease
Bowing of the legs, Short stature, Rickets, Osteomalacia OMIM:146350
Kniest Dysplasia
Joint stiffness, Metaphyseal widening, Abnormality of the epiphysis of the femoral head, Abnormal... ORPHA:485
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... OMIM:602111
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Recurrent fractures, Tracheomalacia, Poorly ... ORPHA:140
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Metaphyseal ... OMIM:608940
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Sclerosis of ... OMIM:304120
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Hyperparathyroidism, Transient Neonatal
Short ribs, Femoral bowing, Osteopenia OMIM:618188
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Rhizomelic arm shortening, Clinodactyly of the 5th finger, Disproportiona... OMIM:223800
Pachydermoperiostosis
Genu varum, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Arthritis, Limitation ... ORPHA:2796
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Occipital Horn Syndrome
Pes planus, Osteoporosis, Osteomalacia, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, Bra... ORPHA:198
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Rhyns Syndrome
Brachydactyly, Osteopenia, Short femoral neck, Short stature, Radial bowing OMIM:602152
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Familial Osteodysplasia, Anderson Type
Missing ribs, Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Increased s... ORPHA:2769
Geroderma Osteodysplasticum
Osteopenia, Recurrent fractures, Severe short stature, Tibial bowing, Osteoporosis, Increased sus... OMIM:231070
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Disproportionate shor... ORPHA:93315
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Obesity, Micrognathia, Short stature, Lower limb un... ORPHA:314795
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Small for gestational age, Fibular hypoplasia, Short 5th finger,... OMIM:227270
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Abnormal foot morphology, Abnorm... ORPHA:352540
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Short stature, Talipes equinova... OMIM:119800
Ulna And Fibula, Hypoplasia Of
Neonatal short-limb short stature, Disproportionate short-limb short stature, Hypoplasia of the u... OMIM:191400
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger sy... ORPHA:2658
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Talipes, Pes planus, Clinodactyly of the 5th finger, Micrognathia, Joint hypermobility, Broad dis... OMIM:300990
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Disproportionate sho... OMIM:210720
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, 4-5 metacarpal synostosis, Fibular hypoplasia, Postaxial foot ... OMIM:206920
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Increased susceptibility to fractures, Short stature, Femoral bowing present... OMIM:166220
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Thin bony cortex, Broad metacarpals, Short stature, Broad phalang... OMIM:277600
Frank-Ter Haar Syndrome
Bilateral talipes equinovarus, Cortical irregularity, Bowing of the long bones, Osteopenia, Short... OMIM:249420
Faciocardiomelic Syndrome
Large for gestational age, Osteopenia, Micrognathia, Polydactyly, Thin bony cortex, Hypoplastic p... OMIM:612731
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Osteoporosis, Thin bony cortex, Long hallux, Short stature, Long fingers, Hy... OMIM:309583
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Disproportionate... OMIM:276820
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Osteoporosis, Decreased skull ossifica... ORPHA:666
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Abnormality of the medullary cavity of the long bones, Small for ... OMIM:127000
Oculodentodigital Dysplasia
Cranial hyperostosis, Clinodactyly, Brachydactyly, Palmoplantar keratoderma, Finger syndactyly, T... ORPHA:2710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Growth delay, Polydactyly, Failure to thrive, Short humerus, Short femur ORPHA:17
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, P... OMIM:228520
Craniotubular Dysplasia, Ikegawa Type
Short palm, Broad femoral neck, Broad ischia, Sclerosis of skull base, Thin bony cortex, Short st... OMIM:619727
Weill-Marchesani Syndrome 2
Brachydactyly, Joint stiffness, Short metacarpal, Thin bony cortex, Broad metacarpals, Short stat... OMIM:608328
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Disproportionate short-tr... OMIM:300106
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Hypoplastic frontal sinu... ORPHA:90652
Wiedemann-Rautenstrauch Syndrome
Long foot, Flexion contracture, Intrauterine growth retardation, Long toe, Short femur, Micrognat... OMIM:264090
Lethal Kniest-Like Dysplasia
Brachydactyly, Hypoplastic vertebral bodies, Short ribs, Flared metaphysis, Wide anterior fontane... ORPHA:2347
Wiedemann-Rautenstrauch Syndrome
Thin long bone diaphyses, Osteopenia, Intrauterine growth retardation, Long toe, Slender build, 2... ORPHA:3455
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thickened cortex of long bones, Broad femoral neck, Small hand, Distal shortening of ... ORPHA:488434
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Seckel Syndrome 1
Hypoplasia of proximal radius, Talipes, Intrauterine growth retardation, Pes planus, 11 pairs of ... OMIM:210600
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Intrauterine ... ORPHA:1788
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal distal phalanx morphology of finger, Severe short stature, Clinodactyly of the 5th finge... ORPHA:2636
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Paranasal sinus hypoplasia, Craniofacial osteosclerosis, Fibular hypoplasia, Clin... OMIM:300373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Pes planus, Deviation of the 5th finger, Genu valgum, Brachydactyly, Flexio... OMIM:143095
8Q24.3 Microdeletion Syndrome
Pes valgus, Talipes, Pes planus, Clinodactyly of the 5th finger, Micromelia, Hip dysplasia, Abnor... ORPHA:508488
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Kinsship Syndrome
Osteopenia, Coxa valga, Fibular hypoplasia, Pes planus, Dislocated radial head, Micrognathia, Pol... OMIM:619297
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Intrauterine growth retardation, Hand oligodactyly, Aplasia/Hy... ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Intrauterine growth retardation, H... ORPHA:958
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Intrauterine growth retardati... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Melnick-Needles Syndrome
Coxa valga, Pes planus, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Hypopl... OMIM:309350
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Intrauterine growth retardation, Small for gestational age, Slender build, Joint laxi... OMIM:613658
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Boomerang Dysplasia
Severe short stature, Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Intrauterine growth retardation, Severe short stature, Growth dela... ORPHA:2753
Femoral-Facial Syndrome
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Micrognathia, Radioulnar s... OMIM:134780
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Upper limb undergrowth, Duplication of phalanx of hallux, Microg... OMIM:236680
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Intrauterine growth retardation, Short palm, Fibular hypoplasia, S... OMIM:211910
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Aspartylglucosaminuria
Abnormality of the ulna, Joint stiffness, Arthritis, Pes planus, Abnormal cortical bone morphology ORPHA:93
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short ribs, Short metacarpal, Hypopl... ORPHA:3404
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Fi... ORPHA:444077
Charge Syndrome
Bilateral talipes equinovarus, Hypoplasia of the ulna, Absent radius, Absent tibia, Short thumb, ... OMIM:214800

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 Scube2

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 Scube2.

No publications found that use IMPC mice or data for Scube2.

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