Not currently registered for phenotyping at IMPC

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

Gene Summary

signal peptide, CUB domain, EGF-like 2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive, Disproportionate... OMIM:600121
Eiken Syndrome
Short toe, Abnormal bone ossification, Delayed epiphyseal ossification, Short phalanx of finger, ... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Abnormal bone ossification, Rhizomelia, Flattened epiphysis, Micrognathia, Epiphysea... ORPHA:166016
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Delayed ossification of carpal bones, Short 1st metacarpal, Broad... OMIM:182255
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Tall stature, Abnormal corti... ORPHA:3152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Aplas... OMIM:200700
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Multiple Epiphyseal Dysplasia With Robin Phenotype
Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Micrognathia,... OMIM:601560
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Mild short stature, Short phalanx of finger, Generalized joint laxity, Hip osteoarth... OMIM:132400
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Severe short stat... ORPHA:3344
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Delayed epiphyseal ossification, Me... OMIM:600081
Mueller-Weiss Syndrome
Chondritis, Fragmented, irregular epiphyses, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Epiphyseal Dysplasia, Multiple, 7
Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral n... OMIM:617719
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Short stature, Joint contracture of the hand, Os... OMIM:264010
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Osteolysis, Abnormality of epiphysis morphology, Ab... ORPHA:970
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Disproportionate short-t... OMIM:271530
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Abnormally shaped carpal bon... OMIM:201250
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finger, Flat ace... ORPHA:750
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... OMIM:156230
Stuve-Wiedemann Syndrome
Short phalanx of finger, Pathologic fracture, Elbow flexion contracture, Femoral bowing, Microgna... OMIM:601559
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Abnormality of the knee, Abnormality of tibia morphology, Abnormal cortical bone morphology, Join... ORPHA:1525
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Micrognathia, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Sho... OMIM:616897
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Joint hypermobility, Camptodactyly of finger, Craniosynostosis, Abnormality of long bone morpholo... ORPHA:356961
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Ectopic ossification, Short distal ... ORPHA:79445
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Flexion contracture, Failure to thrive, Flattened epiphysis, Abnormalit... ORPHA:157965
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Dela... OMIM:264700
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Grant Syndrome
Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones, Abnormal cort... ORPHA:2097
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Dela... OMIM:277440
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex, Bowing of the long bones OMIM:174810
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Hypoplasia ... OMIM:249700
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Short ... OMIM:612447
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Ck Syndrome
Slender build, Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Short Stature, Brussels Type
Microretrognathia, Growth delay, Short stature, Delayed epiphyseal ossification, Calcification of... ORPHA:2867
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Micrognathia, Rhizomeli... OMIM:108720
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Wide anterior fontanel, Overlapping toe, Micrognathia, Fibular hypoplasia, Clinodac... OMIM:201170
Dent Disease 1
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300009
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Subperiosteal bone resorption, Rickets, Postnatal growth retardation, ... ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormal bone ossification, Severe short-limb dwarfism, Poorly o... ORPHA:1263
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Hip dislocation, Short stature, Short ti... OMIM:605274
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Intr... OMIM:251230
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short stature... OMIM:226900
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, ... OMIM:608154
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Short stature OMIM:300484
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Abnormal cartilage morphology, Flattened femoral ... ORPHA:93284
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Short femur, Wide anterior fontanel, Split hand, Hypoplastic i... ORPHA:1860
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis,... ORPHA:99642
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Abnormal foot morphology, Abnormal diaphy... ORPHA:85184
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Disproportionate short stature, Microretrognathia, Pes planus, Short long bone, Trun... OMIM:618363
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Irregular patellae, Patellar hypoplasia, Genu varum, Short stature, Sho... OMIM:609325
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Childhood-onset short-trunk short stature, Disproportionate short-trunk ... OMIM:271630
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Mesomelic arm shortening, Tarsal synostosis, Short 4th finger,... ORPHA:2756
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Greenberg Dysplasia
Abnormal bone ossification, Severe short-limb dwarfism, Rhizomelia, Anterior rib punctate calcifi... ORPHA:1426
Weismann-Netter Syndrome
Squared iliac bones, Severe short stature, Fibular bowing, Calvarial hyperostosis, Anterior tibia... OMIM:112350
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Autosomal Recessive Primary Microcephaly
Growth delay, Short stature, Abnormal cortical bone morphology ORPHA:2512
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Pes planus, Sanda... OMIM:251450
Melnick-Needles Syndrome
Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long bones, Abnormal cortical bo... ORPHA:2484
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short thumb, Sho... ORPHA:93307
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia, Femoral bo... OMIM:615066
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets,... OMIM:307800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Disproportionate short stature, Joint laxity, Metaphyseal irregularity, Cen... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Osteogenesis Imperfecta, Type Ii
Broad long bones, Recurrent fractures, Absent ossification of calvaria, Crumpled long bones, Tibi... OMIM:166210
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Abnormal hip joint morphology, Enlarged interphalangeal joints, Campto... ORPHA:1159
Kyphomelic Dysplasia
Radial bowing, Disproportionate short stature, Short femur, Micrognathia, Dumbbell-shaped humerus... OMIM:211350
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffness, Abnormalit... ORPHA:296
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Abnormality of pelvic girdle... OMIM:607634
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Mesomelic short stature, Short tibia, Ulnar bowing OMIM:127350
Ivic Syndrome
Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar... OMIM:147750
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short stature, Short tibia OMIM:258865
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Limb undergrowth, Short stature, Brachydactyly, Micromelia OMIM:122900
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... OMIM:600002
Osteogenesis Imperfecta, Type Iii
Disproportionate short-limb short stature, Protrusio acetabuli, Wide anterior fontanel, Decreased... OMIM:259420
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Camptodactyly of finger, Dislocated radial head, Joint laxity, Short ph... OMIM:612350
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Generalized ost... OMIM:617952
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Micrognathia, Hand clenching, Club-shaped distal femur... ORPHA:56305
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydac... OMIM:617925
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Increased susceptibility to fractures, Knee flexion con... OMIM:609220
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Synostosis i... ORPHA:221016
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Growth delay... ORPHA:221008
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Sho... ORPHA:988
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Growth delay, Decreased body weight, Abnormal cortical bone morphology, S... OMIM:614886
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Re... ORPHA:2909
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Disproportionate short stature, Short... ORPHA:1427
Campomelic Dysplasia
Talipes equinovarus, Neonatal short-limb short stature, Poorly ossified cervical vertebrae, Wide ... OMIM:114290
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing OMIM:126550
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Postnatal growth retardation, Interpha... ORPHA:96334
Omodysplasia 1
Limited knee flexion, Limited elbow extension, Hypoplastic distal humeri, Limited knee extension,... OMIM:258315
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Mild short stature, Short middle phalanx... OMIM:156500
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wide anterior fontanel, Joint laxity, Externally rotated/abducted legs, Recurrent ... OMIM:610915
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Hypertrophy of skin of soles, Facial hyperostosis, Cal... OMIM:176920
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Overlapping toe, Short metacarpal, Small epiphyses, Short stature, Proximal fem... OMIM:616723
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged metaphyses, Flexio... OMIM:210710
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Tibial dev... OMIM:268305
Stüve-Wiedemann Syndrome
Osteoporosis, Camptodactyly of finger, Genu valgum, Metaphyseal widening, Flexion contracture of ... ORPHA:3206
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Epiphyseal stippling, Short distal... ORPHA:86822
Fibrous Dysplasia Of Bone
Lower limb asymmetry, Osteolysis, Patchy reduction of bone mineral density, Abnormality of tibia ... ORPHA:249
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Toe clinodactyly, S... ORPHA:457395
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Flexion contracture, Absent ossification of capital femoral epiphysis, Tibial bowing, Joint stiff... OMIM:245160
Dent Disease
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Enlarged epiphyses, Ricke... ORPHA:1652
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Hypo... ORPHA:2634
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Short stature OMIM:146350
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... OMIM:602111
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Rhizomelia, Hypoplastic inferior ilia, Short finger, Metaphyseal cuppin... OMIM:608940
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Talipes equinovarus, Tarsal synostosis, Short phal... OMIM:609441
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Postnatal growth retardation... OMIM:223800
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Growth delay, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Postnata... OMIM:304120
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... ORPHA:198
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing, Short ribs OMIM:618188
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Joint laxity, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Osteoporosis, Osteolysis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Abnormal... ORPHA:2796
Rhyns Syndrome
Radial bowing, Short stature, Osteopenia, Short femoral neck, Brachydactyly OMIM:602152
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the long bones, Recurren... ORPHA:140
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Abnormal cortical bone morphology, Aplasia/hypoplasia of the femur, Increase... ORPHA:2769
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Geroderma Osteodysplasticum
Osteoporosis, Camptodactyly, Recurrent fractures, Severe short stature, Tibial bowing, Increased ... OMIM:231070
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Frank-Ter Haar Syndrome
Osteoporosis, Hip dysplasia, Talipes equinovarus, Wide anterior fontanel, Short phalanx of finger... OMIM:249420
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Shor... OMIM:119800
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal pelvis bone morphology, Fibrous dysplasia of the bones,... ORPHA:352540
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Neonatal short-limb short stature, Hypoplasia of the ulna, Disproportionate s... OMIM:191400
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of finger, Finger syndactyly, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis,... ORPHA:2658
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Joint hypermobility, Broad distal phalanx of finger, Short femur, Talipes, Micrognathia, Pes plan... OMIM:300990
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Small for gestatio... OMIM:227270
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, L... OMIM:210720
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Growth delay, Foo... OMIM:206920
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Dislocated radial head, Talipes equinovarus, Aplasia/Hypoplasia of the s... ORPHA:2839
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Short stature, Lower limb asymmetry, ... OMIM:608571
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Advanced tarsal ossification, Hypoplastic scapulae, Hy... ORPHA:3144
Weill-Marchesani Syndrome 1
Proportionate short stature, Broad metatarsal, Joint stiffness, Short stature, Thin bony cortex, ... OMIM:277600
Faciocardiomelic Syndrome
Hypoplastic pelvis, Polydactyly, Micrognathia, Slender long bone, Thin bony cortex, Osteopenia, L... OMIM:612731
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Micrognathia, Adducted thumb, Aplasia/Hypoplasia... ORPHA:3320
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Growth delay, Flexion contracture, Short humerus, Failure to thrive ORPHA:17
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Wide anterior fontanel, Rhizomelia, Camptodactyly, Hypoplastic sc... OMIM:228520
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Severe short stature, Increased bone miner... OMIM:127000
Osteogenesis Imperfecta
Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphology, Small ... ORPHA:666
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Metatarsus adduct... OMIM:271640
Oculodentodigital Dysplasia
Short hallux, Camptodactyly of finger, Aplasia/Hypoplasia of the middle phalanges of the hand, Pr... ORPHA:2710
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Flared ilia... ORPHA:90652
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Severe short-limb dwarfism, Wide anterior fontanel, Abnormality of the... ORPHA:2347
Wiedemann-Rautenstrauch Syndrome
Short femur, Hypoplastic ilia, Flexion contracture, Long foot, Large hands, Short humerus, Long t... OMIM:264090
Weill-Marchesani Syndrome 2
Short metatarsal, Proportionate short stature, Broad metatarsal, Flexion contracture of toe, Shor... OMIM:608328
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Disproportionate short stature, Fibular aplasia, Toe ... OMIM:260660
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Cartilage-Hair Hypoplasia
Abnormality of the metaphysis, Disproportionate short-limb short stature, Limited elbow extension... ORPHA:175
Wiedemann-Rautenstrauch Syndrome
Slender build, Joint hypermobility, Camptodactyly of finger, Hip dysplasia, Short femur, Growth d... ORPHA:3455
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Spina bifida occulta, Short foot, Osteopenia, Thickened c... ORPHA:488434
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Proportionate short stature, Micrognathia,... OMIM:210600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Aplastic cl... ORPHA:2636
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Generalized bone demineralization, Short phalanx of finger, Pes planus, Short distal phalanx of f... OMIM:143095
8Q24.3 Microdeletion Syndrome
Joint laxity, Congenital hip dislocation, Pes planus, Small for gestational age, Long toe, Spina ... ORPHA:508488
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Osteopathia Striata With Cranial Sclerosis
Talipes equinovarus, Fibular aplasia, Micrognathia, Camptodactyly, Craniofacial osteosclerosis, F... OMIM:300373
Osteogenesis Imperfecta, Type I
Joint hypermobility, Recurrent fractures, Increased susceptibility to fractures, Osteopenia, Femo... OMIM:166200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Joint laxity, Rickets, Growth delay, Reduced bone mineral density, Thin bony corte... OMIM:613658
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Cranioectodermal Dysplasia 1
Osteoporosis, Short toe, Triphalangeal hallux, Joint laxity, Broad toe, Rhizomelia, Short humerus... OMIM:218330
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Phocomelia, Schinzel Type
Radial bowing, Humeroradial synostosis, Abnormality of tibia morphology, Disproportionate short s... ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Acro-Renal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Short stature, Fa... OMIM:619297
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Micrognathia, Spl... OMIM:200980
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Talipes equinovarus, Pes planus, Hypoplastic scapulae, Shor... OMIM:309350
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Severe short stature, Fibular aplasia OMIM:112310
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Postaxial hand polydactyly, Short 1st metacarpal, Short sternum,... OMIM:269150
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Postaxial hand polydactyly, Upper limb undergrowth, Duplication of pha... OMIM:236680
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Femoral-Facial Syndrome
Humeroradial synostosis, Short fifth metatarsal, Preaxial hand polydactyly, Radioulnar synostosis... OMIM:134780
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Short... OMIM:211910
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Pes planus, Abnormal cortical bone morphology, Joint stiffness, Abnormality of the ulna, Arthritis ORPHA:93
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Micrognathia, Short sternum, Aplasia of the ulna, Short metacarpal, Sho... OMIM:266910
Ulbright-Hodes Syndrome
Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Short sternum, Mesomelia, Severe... ORPHA:3404
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Cervical C2/C3 vertebral fusion, Fibular hypoplasia, Small hand, Short stature, ... ORPHA:444077


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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