Gene Summary

Name:
metastasis associated 1
Synonyms:
N/A

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Mta1tm1a(EUCOMM)Wtsi HOM Early adult 1.11×10-05
decreased sacral vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.77×10-06
decreased caudal vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.65×10-06
decreased sacral vertebrae number Mta1tm1a(EUCOMM)Wtsi HET   Early adult 9.14×10-06
decreased mean corpuscular volume Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.80×10-05
abnormal behavior Mta1tm1a(EUCOMM)Wtsi HOM Early adult 3.07×10-10
decreased lumbar vertebrae number Mta1tm1a(EUCOMM)Wtsi HET   Early adult 9.14×10-06
abnormal tail morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 4.86×10-05
abnormal skin pigmentation Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 5.63×10-05
decreased lumbar vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.77×10-06
decreased body weight Mta1tm1a(EUCOMM)Wtsi HOM Early adult 4.49×10-06
absent pinna reflex Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 4.91×10-05
abnormal skin morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 5.63×10-05
decreased body weight Mta1tm1a(EUCOMM)Wtsi HET Early adult 5.42×10-08
trunk curl Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 1.30×10-05
decreased circulating LDL cholesterol level Mta1tm1a(EUCOMM)Wtsi HOM Early adult 1.74×10-07
decreased lean body mass Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.94×10-05
abnormal rib morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 2.03×10-05
increased bone mineral content Mta1tm1a(EUCOMM)Wtsi HET Early adult 5.86×10-05
decreased caudal vertebrae number Mta1tm1a(EUCOMM)Wtsi HET Early adult 6.57×10-07
increased total body fat amount Mta1tm1a(EUCOMM)Wtsi HOM Early adult 4.03×10-08

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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.

Legacy Phenotype Associated Images

View all 206 images

Human diseases caused by Mta1 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 Mta1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormality of the ribs, Radioulnar synostosis, Pectus carinatum ORPHA:3268
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Osteolysis, Flex... OMIM:614008
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Pectus carinatum, Kyphosis, Decreased calvarial ossification, Recurrent... OMIM:259440
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Premature graying of hair, Pectus excavatum, Flexion contractur... ORPHA:1979
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Kyphosis, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormality of skin pigmentation, Abnormal dental enamel morphology, Abnormal form of ... ORPHA:2180
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Failure to thrive in infancy, Thrombocytopenia, Anemia, Abnormality of ... OMIM:611209
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Failure to thrive, Abnormality of the ribs, Short neck ORPHA:1703
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Omphalocele, Decreased skull ossificat... ORPHA:93267
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Thoracolaryngopelvic Dysplasia
Scoliosis, Slender build, Horizontal ribs, Irregular vertebral endplates, Bell-shaped thorax, Sho... OMIM:187760
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Lipoatrophy, Rib fusion, Spina bifida oc... ORPHA:64755
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Eunuch... ORPHA:2234
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Umbilical hernia, Femoral hernia, A... ORPHA:93298
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Small for gestational age, Osteopenia, Vertebral compression fr... OMIM:616229
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Methylcobalamin Deficiency Type Cble
Scoliosis, Osteoporosis, Neutropenia, Pancytopenia, Hypomethioninemia, Failure to thrive, Increas... ORPHA:2169
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Inguinal hernia, S... OMIM:619122
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Tremor, Abnormal posturing, Kyphosis OMIM:128100
Hypophosphatasia
Craniosynostosis, Narrow chest, Recurrent fractures, Failure to thrive in infancy, Hypercalcemia,... ORPHA:436
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Narrow chest, Recurrent fractures, Umbilical hern... ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Synostosis of carpal bones, Pectus carinatum, Abnormality of the rib... ORPHA:93351
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cervical vertebrae,... ORPHA:628
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Mohr-Tranebjaerg Syndrome
Tremor, Increased susceptibility to fractures, Abnormal posturing OMIM:304700
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Abnormal dental enamel morphology, Pectus ... ORPHA:582
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Recurrent fractures, Abnormal cortical bone morphology, Ab... ORPHA:1486
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:2921
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Broad ribs, Flaring of rib cage, Failure to thrive in infancy, Elevated ... OMIM:612852
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the ribs ORPHA:1513
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Neutropenia, Thrombocytopenia, Inguinal hernia, Methylmalonic acidemia, Anemi... OMIM:614857
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Thickened ribs, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormality of the spleen, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Umbilical hernia, Reduced bone minera... ORPHA:1488
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis ORPHA:79455
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Leukopenia, Anemia, Deformed rib cage, Osteomyelitis, Vertebral compre... ORPHA:811
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Heterochromia iridis, Premature graying of hair, White eyebrow, Sprengel... OMIM:193500
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Delayed pubic bone ossification, Anterior rib cupping, P... OMIM:184250
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Pigmentary retinopathy, Weight loss, Opisthotonus, Increased susceptibility t... ORPHA:216866
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Mildly elevated creatine kinase, Short ribs, Interphalangeal ... ORPHA:1145
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormality of the ribs, ... ORPHA:1836
Femoral-Facial Syndrome
Scoliosis, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Inguinal hernia, Abnormality of t... ORPHA:1988
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, White forelock, Spina bifida occulta, Abnormality of th... ORPHA:2475
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Beaded ribs, Recurrent fractures, Absent ossification of calvaria, Multiple prenat... OMIM:166210
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Beaking of vertebral bodies, Delayed... OMIM:609616
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel anomaly, Abnorma... ORPHA:2097
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... OMIM:615633
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Pectus carinatum, Joint hyperflexibility, Pectus excavatum, Six... ORPHA:65286
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Persistence of hemoglobin F, Narrow chest, Ovoid vertebral bodies, Neutrope... OMIM:260400
Diamond-Blackfan Anemia 7
Scoliosis, Osteoporosis, Sprengel anomaly, Neutropenia, Increased mean corpuscular volume, Osteop... OMIM:612562
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Severe platyspondy... OMIM:151210
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Barrel-shaped chest, Hypoplastic sc... OMIM:200600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Joint laxity, Irregular vertebral endplates, Thin ribs, Short neck, Obe... OMIM:618395
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormal posturing, Weight loss ORPHA:157941
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Ovoid ve... OMIM:269250
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Recurrent fractures, Umbilical her... OMIM:617952
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Failure... OMIM:618156
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, Fractured radiu... OMIM:616897
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Craniofacial hyperostosis, Joint hyperflexi... ORPHA:2484
Mucopolysaccharidosis Type 6
Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Hernia, Failure to thrive, Splenom... ORPHA:583
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormality of retinal pigmentation, Narrow chest, Ab... ORPHA:474
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Osteogenesis Imperfecta, Type Iii
Scoliosis, Biconcave vertebral bodies, Decreased calvarial ossification, Kyphosis, Recurrent frac... OMIM:259420
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Platyspondyly, Limited elbow extension, Short thorax, Abnormality of th... ORPHA:239
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Prominent sternum, Joint laxity, Ovoid ver... OMIM:253000
Cardiospondylocarpofacial Syndrome
Scoliosis, Freckling, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion,... OMIM:157800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Prominent sternum, Joint laxity, Ovoid ver... OMIM:253010
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of the ribs, Abnormal clavicle morphology, Osteolysis, Patchy reduction of... ORPHA:249
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:266510
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, ... ORPHA:79402
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Cupped ribs, Thoracic hypoplasia ORPHA:168549
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Potocki-Lupski Syndrome
Scoliosis, Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Dysosteosclerosis
Platyspondyly, Sclerosis of hand bone, Broad ribs, Narrow chest, Short sternum, Irregular vertebr... OMIM:224300
Terminal Osseous Dysplasia
Abnormality of skin pigmentation, Camptodactyly of finger, Abnormal hand bone ossification, Campt... OMIM:300244
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Joint hyperflexibility, Atypical scarring of skin, Flexion cont... ORPHA:75496
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Joint laxity, Narrow chest, Generalized joint laxity, Broad ribs, Denti... OMIM:613848
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Failure to thrive OMIM:616353
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia OMIM:237450
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Sandifer Syndrome
Decreased cervical spine mobility, Hiatus hernia, Abnormal posturing, Anemia ORPHA:71272
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Hernia, Splenomeg... OMIM:252930
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Cartilage-Hair Hypoplasia
Scoliosis, Hyperlordosis, Limited elbow extension, Abnormal bone ossification, Biconvex vertebral... ORPHA:175
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Joint laxity, Barrel-shaped chest, Kyphosis, Recurrent fractures, Thin ... OMIM:610915
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Dentinogenesis imperfecta... OMIM:616294
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly OMIM:252900
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Pectus excavatum, Spren... ORPHA:392
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Lymphopenia, Impaired lymphocyte transfo... OMIM:250250
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Joint stiffness, Cachexia, Abnormality of the ribs ORPHA:3242
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the ribs, Radioulnar synostosis, Abnormal vertebral morphology ORPHA:2319
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Multicentric ossification of proximal femoral epiphyses, Prominent ster... OMIM:223800
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal form of the vertebral bodies, Omphalocele, Missing ribs, Congenital diaphragm... ORPHA:1834
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Abnormal de... ORPHA:2616
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Vacuolated lymphocytes, Beaking of vertebral bodies, Kyphosis, Inguina... OMIM:230500
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Thoracic hypoplasia, Camptod... OMIM:228520
Prune Belly Syndrome
Scoliosis, Pectus excavatum, Failure to thrive, Abnormality of the ribs, Vertebral segmentation d... ORPHA:2970
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Scoliosis, Abnormality of skin pigmentation, Joint laxity ORPHA:457260
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow chest, Hypopigment... ORPHA:96061
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Kyphosis, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Hyp... OMIM:212065
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Joint stiffness, Cupped ribs OMIM:608940
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Lumbar hyperlordosis, Thin ribs,... OMIM:612921
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormality of the ribs, Short neck, Hernia of the abdominal wall ORPHA:3082
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Splenomegaly OMIM:607765
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Amelogenesis imperfecta, Broad ribs, Biconcave vertebral bodies, Short ribs, Short cla... OMIM:610319
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Cole-Carpenter Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies, Joint hyperf... ORPHA:2050
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Prominent sternum, Thoracic kyphosis, Flexion contracture, T... OMIM:300232
Poland Syndrome
Scoliosis, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Sprengel anomaly, Absence of ... ORPHA:2911
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Delayed ossification of carpal bones, Ovoid vertebral ... OMIM:607778
Craniofaciofrontodigital Syndrome
Narrow chest, Umbilical hernia, Inguinal hernia, Abnormality of the ribs, Abnormal shoulder morph... ORPHA:363705
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Joint stif... ORPHA:2876
Pontine Tegmental Cap Dysplasia
Scoliosis, Head titubation, Rib fusion, Hemivertebrae, Failure to thrive OMIM:614688
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Ab... ORPHA:14
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly OMIM:252920
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Thin ribs, Decreased skull ossification, Anemia, Hypomagnesemia, Calvarial osteoscl... OMIM:244460
X-Linked Hypophosphatemia
Hypophosphatemia, Craniosynostosis, Cellulitis, Sacroiliac joint synovitis, Rickets, Beaded ribs,... ORPHA:89936
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Vertebral arch anomaly OMIM:148050
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis, Decreased body weight OMIM:618265
Vici Syndrome
Hypopigmentation of hair, Albinism, Abnormal posturing, Decreased proportion of CD4-positive help... OMIM:242840
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Iris hypopigmentation, Decreased hip abduction, Limited ... ORPHA:85167
Frontometaphyseal Dysplasia 1
Scoliosis, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular winging, Partial... OMIM:305620
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Enamel hypoplasia, Neutropenia ORPHA:2643
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Omphalocele, Splenomegaly ORPHA:3035
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Pigmentary retinopathy, Abnormal erythrocyte morphology, Decreased body wei... ORPHA:96180
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Joint hypermobility, Abnormal bone ossification, Lumbar hemivertebrae, Pectus excavatum, Thin rib... ORPHA:2463
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Craniofacial hyperostosis, Pectus carinatum, Abnormality of the ribs, Limitation o... ORPHA:3068
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fractures, Hyperuricemia, A... ORPHA:2769
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Short ribs, Narrow chest OMIM:618188
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Mucopolysaccharidosis, Type Vi
Prominent sternum, Broad ribs, Ovoid vertebral bodies, Umbilical hernia, Anterior wedging of L2, ... OMIM:253200
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Hernia, Short neck, Vertebr... ORPHA:1394
Schwartz-Jampel Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Increased bone mineral density, Joint stiffness, W... ORPHA:800
Oslam Syndrome
Abnormality of neutrophils, Radioulnar synostosis, Increased mean corpuscular volume ORPHA:2760
Achondrogenesis, Type Ii
Horizontal ribs, Barrel-shaped chest, Absent vertebral body mineralization, Short ribs OMIM:200610
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Increased suscepti... OMIM:312150
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Increased bone mineral density, Thin bony cortex, Osteopenia, Vertebral arch anomaly ORPHA:85184
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Hypocalcemia, Cortical thickening of long bone diaphyses, Hypocalcemic tet... ORPHA:93324
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae, Radioulnar synostosis OMIM:263750
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Reduced bone mineral density, Multiple lipomas, Splenomegaly, H... ORPHA:1414
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Failure to thrive, Acanthocytosis ORPHA:71
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Flexion contracture, Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly... OMIM:252940
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Hyperostosis, Thin ribs, Asymmetry of the thorax, Increased susceptibili... OMIM:604922
Cleidocranial Dysplasia
Scoliosis, Osteoporosis, Abnormality of the ribs, Abnormal dental enamel morphology, Narrow chest... ORPHA:1452
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis, Platyspondyly, Broad ribs, Narrow chest, Ovoid vertebral bodies, Cuboid-shaped vert... ORPHA:1517
Trisomy 13
Scoliosis, Narrow chest, Kyphosis, Hernia, Abnormality of the ribs ORPHA:3378
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Increased suscepti... OMIM:253290
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Abnormal dental enamel morphology, Narrow chest, Increased suscep... ORPHA:666
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Thin ribs, Small for gestational age, Elevated circu... OMIM:615368
Hurler Syndrome
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Abnormality of skin pigmentatio... ORPHA:93473
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Pectus carinatum, Kyphosis, Sprengel anomaly, Hypoplasti... ORPHA:958
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Abnormal vertebral morphology, Rib fusion, Failure to thrive, Congen... ORPHA:261197
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Radioulnar synostosis, Synostosis of carpal bones, ... ORPHA:3258
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Abnormal bone ossification, Narrow chest, Abnormal form of the... ORPHA:73230
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Atypical scarring of skin, Thrombocytopenia, Corneal scarring, Path... OMIM:263700
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis, Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Tarsal synostosis, Narrow chest, Syn... ORPHA:90652
Alagille Syndrome
Abnormal form of the vertebral bodies, Failure to thrive, Spina bifida occulta, Abnormality of th... ORPHA:52
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Omphalocele, Umbilical hernia, Coat hanger sign of ribs, Small for gestation... ORPHA:254534
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Contractures involving the joints of the feet, Joint contractur... ORPHA:220402
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Cachexia, Anemia, Splenomegaly, Generalized hyperpigmentation ORPHA:2930
Kagami-Ogata Syndrome
Flexion contracture, Bell-shaped thorax, Omphalocele, Thin ribs, Inguinal hernia, Splenomegaly, K... OMIM:608149
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Unilateral chest h... OMIM:308205
Lethal Congenital Contracture Syndrome 10
Short neck, Broad ribs, Narrow chest, Omphalocele, Hypoplasia of the thymus, Stiff neck, Thoracic... OMIM:617022
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Failure to thrive in infancy, Reduced bo... ORPHA:834
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Lateral clavicle hook, C1-C2 vertebral abnormality, Craniosynosto... OMIM:182212
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Stuve-Wiedemann Syndrome
Scoliosis, Osteoporosis, Abnormal dental enamel morphology, Short neck, Blotching pigmentation of... OMIM:601559
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Lateral clavicle hook, Joint laxity, Pectus carinatum, Camptodactyly, Flexi... OMIM:224690
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Craniosynostosis ORPHA:2145
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Limited elbow extension, Hiatus hernia, Joint laxity, Narrow chest, ... OMIM:304150
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Broad clavicles, Cortically dense long tubular bones, ... OMIM:269500
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia, Prominent floating ribs OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Anterior rib cupping, Aplasia of the thymus, Autoimmune ... OMIM:102700
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture, Decreased body weight OMIM:614833
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Abnormal sternum morpholo... ORPHA:2990
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Abnormal sternum morphology, Sprengel anomaly, D... OMIM:109400
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Short ribs, Lumbar hyperlordosis, Irregular chondrocostal junctions, Fla... OMIM:250420
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Camptodactyly of finger, Abnormal circulating creatine kinase concentration, Arthrogry... ORPHA:2215
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Microcephaly-Micromelia Syndrome
Humeroradial synostosis, Craniosynostosis, Narrow chest, Abnormality of the ribs, Short neck OMIM:251230
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Omphalocele, Short ribs OMIM:617895
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Craniofacial hyperostosis, Horizontal r... ORPHA:3003
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Broad ribs, Short ribs, Increased serum beta-hexosaminidase OMIM:252600
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Beaking of vertebral bodies, Poli... OMIM:213980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Osteoporosis, Platyspondyly, Joint laxity, Delayed proximal femoral epiphyseal ossification, Ovoi... OMIM:271640
Aspergillosis
Abnormality of the vertebral column, Neutropenia, Abnormality of the ribs, Osteomyelitis, Eosinop... ORPHA:1163
Aicardi Syndrome
Scoliosis, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Hiatus hernia, ... ORPHA:50
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Resting tremor ORPHA:225147
Craniolenticulosutural Dysplasia
Scoliosis, Abnormality of skin pigmentation, Narrow chest, Joint hyperflexibility, Hyperpigmentat... ORPHA:50814
Campomelia, Cumming Type
Abnormality of the ribs, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Vertebral segmentation defect, Congenital diaphragmatic hernia ORPHA:1120
Kaufman Oculocerebrofacial Syndrome
Ovoid vertebral bodies, Bell-shaped thorax, Failure to thrive, Hypocholesterolemia OMIM:244450
Hennekam-Beemer Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of skin pigmentation, Irregular hyperpigmentation... ORPHA:2135
Bone Marrow Failure Syndrome 3
Abnormality of skin pigmentation, Joint hypermobility, Enamel hypoplasia, Amelogenesis imperfecta... OMIM:617052
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Short ribs, Short neck, Hypopla... OMIM:245190
Kagami-Ogata Syndrome
Short neck, Thoracic hypoplasia, Bell-shaped thorax, Omphalocele, Coat hanger sign of ribs, Ingui... ORPHA:254519
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Camptodacty... OMIM:265000
Monosomy 9Q22.3
Abnormality of the vertebral column, Joint hyperflexibility, Kyphosis, Pectus excavatum, Umbilica... ORPHA:77301
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Congenital diaphragmatic hernia, Missing ribs, Hypopigmented skin patches ORPHA:1647
Vacterl/Vater Association
Omphalocele, Abnormality of the intervertebral disk, Congenital diaphragmatic hernia, Abnormality... ORPHA:887
Craniometadiaphyseal Dysplasia
Scoliosis, Osteopenia, Sclerosis of skull base, Broad ribs OMIM:269300
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Recurrent fractures, Elbow ankylosis, Jo... ORPHA:83
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Craniofaciofrontodigital Syndrome
Joint hypermobility, Broad ribs, Pectus excavatum, Short neck, Hypoplastic vertebral bodies OMIM:114620
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Hypercholesterolemia, Abnormal dental enamel morphology, Joint stiffness, Anemia, Abno... ORPHA:534
Gracile Bone Dysplasia
Hypocalcemia, Thin ribs, Asplenia, Failure to thrive, Decreased skull ossification, Hypoplastic s... OMIM:602361
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Increased connective tissue, Flexion contracture, Abnormal th... ORPHA:171430
Cohen Syndrome
Scoliosis, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Joint hyperflex... ORPHA:193
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Missing ribs ORPHA:3301
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Prominent sternum, Flexion contracture of finger, Joint laxity, Thoracic hypoplasia, Camptodactyl... ORPHA:254528
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Rib fusion, Failure to thrive, Kyphoscoliosi... ORPHA:263508
Short Rib-Polydactyly Syndrome
Abnormal bone ossification, Abnormal hand bone ossification, Narrow chest, Thoracic hypoplasia, H... ORPHA:1505
Hallermann-Streiff Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Pectus excavatum, Abnormal rib cage morphology, Th... OMIM:234100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Broad ribs, Camptodactyly, Craniofacial osteosclerosis, Flexio... OMIM:300373
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Platyspondyly, Craniosynostosis, Osteolysis, Joint laxity, Pectus carinatum, Pect... ORPHA:309282
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia,... OMIM:600901
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Abnormality of skin pigmentation OMIM:613988
Mucopolysaccharidosis Type 3
Scoliosis, Abnormal clavicle morphology, Pigmentary retinopathy, Abnormal form of the vertebral b... ORPHA:581
Trisomy 1Q
Camptodactyly of finger, Short thorax, Omphalocele, Congenital diaphragmatic hernia, Abnormality ... ORPHA:261344
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia,... OMIM:227650
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Focal Dermal Hypoplasia
Scoliosis, Camptodactyly of finger, Abnormality of skin pigmentation, Abnormal dental enamel morp... ORPHA:2092
Acrorenal-Mandibular Syndrome
Narrow chest, Hypoplastic scapulae, Hemivertebrae, Thin ribs, Abnormal sacral segmentation, Conge... OMIM:200980
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sacrococcygeal teratoma, Broad ribs, Short sternum, Splenopancre... OMIM:269150
Wolf-Hirschhorn Syndrome
Scoliosis, Osteoporosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abno... ORPHA:280
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormality of the ribs, Joint stiffness, Nonketotic hyperglycinemia ORPHA:1300
Aicardi Syndrome
Scoliosis, Hiatus hernia, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Supernumerary r... OMIM:304050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Limited elbow extension, Humeroradial synostosis, Craniosynostosis, Tarsal synostosis,... ORPHA:95699
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly, Omphalocele, ... ORPHA:96334
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormality of the ribs, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Osteogenesis Imperfecta, Type Vii
Scoliosis, Narrow chest, Decreased calvarial ossification, Pectus excavatum, Recurrent fractures,... OMIM:610682
Cockayne Syndrome B
Osteoporosis, Abnormality of skin pigmentation, Tremor, Pigmentary retinopathy, Atypical scarring... OMIM:133540
Incontinentia Pigmenti
Scoliosis, Camptodactyly of finger, Abnormality of skin pigmentation, Osteolysis, Irregular hyper... ORPHA:464
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor, Craniosynostosis, Narrow chest, Recurrent fractures, Oste... ORPHA:667
Incontinentia Pigmenti
Abnormality of skin pigmentation, Leukocytosis, Scarring, Hemivertebrae, Kyphoscoliosis, Supernum... OMIM:308300
Mastocytosis
Osteoporosis, Abnormality of skin pigmentation, Chronic leukemia, Recurrent fractures, Hypercalce... ORPHA:98292
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Decreased body weight, Delayed tarsal ossificat... OMIM:600002
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Intervertebral disk calcification,... ORPHA:56
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Pectus excavatum, Rib fusion, Umbilical hernia, Thoracic hemiverte... OMIM:268310
Myhre Syndrome
Platyspondyly, Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Femoral hernia, Abnor... ORPHA:2588
Gaucher Disease
Abnormality of skin pigmentation, Tremor, Arthrogryposis multiplex congenita, Osteolysis, Recurre... ORPHA:355
Proteus Syndrome
Scoliosis, Abnormality of skin pigmentation, Abnormal dental enamel morphology, Craniosynostosis,... ORPHA:744
Lenz-Majewski Hyperostotic Dwarfism
Humeroradial synostosis, Broad ribs, Proximal symphalangism of hands, Broad clavicles, Inguinal h... OMIM:151050
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormality of the ribs, Osteopenia, Short neck, Thickened cortex of long b... ORPHA:488434
Weill-Marchesani Syndrome 1
Scoliosis, Broad ribs, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Thin bony co... OMIM:277600
Xylt1-Cdg
Broad ribs, Truncal obesity, Joint laxity, Short clavicles ORPHA:370930
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Two carpal ossification centers present at birth, Polysplenia, Pectus excavatum, Six l... OMIM:312870
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormality of the ribs, Platyspondyly, Abnormal scapula morphology, Narrow chest ORPHA:93317
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Thoracic hypoplasia, Undulate ribs, L... OMIM:211350
Alagille Syndrome 1
Hypercholesterolemia, Pigmentary retinopathy, Hemivertebrae, Hypertriglyceridemia, Failure to thr... OMIM:118450
Radio-Renal Syndrome
Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Cerebrocostomandibular Syndrome
Scoliosis, Thoracic hypoplasia, Bell-shaped thorax, Anomalous rib insertion to vertebrae, Rib gap... OMIM:117650
Van Den Ende-Gupta Syndrome
Lateral clavicle hook, Craniosynostosis, Camptodactyly of toe, Pectus excavatum, Thin ribs, Gleno... OMIM:600920
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Trisomy 18
Camptodactyly of finger, Abnormality of retinal pigmentation, Omphalocele, Hernia, Cachexia, Cong... ORPHA:3380
Simpson-Golabi-Behmel Syndrome
Scoliosis, Camptodactyly of finger, Polysplenia, Pectus excavatum, Omphalocele, Umbilical hernia,... ORPHA:373
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Mildly elevated creatine kinase, Large for gestational age ORPHA:169189
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs... OMIM:263520
Short-Rib Thoracic Dysplasia 12
Short thorax, Narrow chest, Hypoplastic scapulae, Horizontal ribs, Omphalocele, Short ribs, Ingui... OMIM:269860
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Inguinal hernia, Large for gestational age, Rib fusion, Sacral dimple ORPHA:544488
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Horizontal inferior border of scapula, Short ribs, Delayed epiphysea... OMIM:250220
Microcephaly, Short Stature, And Limb Abnormalities
Abnormality of the ribs, Radioulnar synostosis OMIM:617604
Femoral-Facial Syndrome
Scoliosis, Humeroradial synostosis, Radioulnar synostosis, Sprengel anomaly, Dysplastic sacrum, R... OMIM:134780
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Thin ri... ORPHA:83617
Weill-Marchesani Syndrome 2
Scoliosis, Broad ribs, Flexion contracture of toe, Umbilical hernia, Lumbar hyperlordosis, Joint ... OMIM:608328
Cockayne Syndrome A
Abnormality of skin pigmentation, Tremor, Pigmentary retinopathy, Atypical scarring of skin, Kyph... OMIM:216400
Myhre Syndrome
Platyspondyly, Broad ribs, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Joint st... OMIM:139210
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Thoracic hypoplasia, Horizontal ribs, Short ribs OMIM:613091
Monosomy 9P
Scoliosis, Abnormality of the vertebral column, Hernia, Congenital diaphragmatic hernia, Abnormal... ORPHA:261112
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Decreased calvarial ossification, Horizontal ribs, Short rib... OMIM:617925
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Pectus excavatum, Flexion contracture, Thin ribs, Hypertriglyceridemia, ... OMIM:619127
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Camptodactyly of finger, Abnormal dental enamel morphology, Aty... ORPHA:2908
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemi... OMIM:617140
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Narrow chest, Bell-shaped thorax, Horizontal ribs, Short ribs, Omphalocele OMIM:616300
Schinzel-Giedion Syndrome
Scoliosis, Myeloid leukemia, Stiff elbow, Sacrococcygeal teratoma, Abnormal clavicle morphology, ... ORPHA:798
Tangier Disease
Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplenomegaly ORPHA:31150
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia,... OMIM:227646
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Flexion contracture, Lipoatrophy, Absence of subcutaneous fat, Thin ribs, Hypertriglyc... OMIM:264090
Robinow Syndrome
Scoliosis, Rib fusion, Fused thoracic vertebrae, Hemivertebrae, Umbilical hernia, Small for gesta... ORPHA:97360
Cranioectodermal Dysplasia 2
Craniosynostosis, Joint laxity, Narrow chest, Polysplenia, Pectus excavatum, Horizontal ribs, Hyp... OMIM:613610
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Splenomegaly, Multiple rib fractures, Anemia,... OMIM:612301
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Irregular hyperpigmentation, Joint hyperflexibility, Hypopigmented skin ... ORPHA:2907
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Abnormality of retinal pigmentation, Abnormal vertebral ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Abnormality of retinal pigmentation, Abnormal vertebral ... ORPHA:217093
Smith-Lemli-Opitz Syndrome
Scoliosis, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormal form of the vert... ORPHA:818
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Conjugated hyperbilirubinemia, Horizontal ribs, Short ribs, ... OMIM:208500
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Arthrogryposis multiplex congenita, Thoracic hypoplasia, Elbow ankylosis... OMIM:208150
Autosomal Recessive Robinow Syndrome
Scoliosis, Camptodactyly of finger, Synostosis of carpal bones, Pectus carinatum, Kyphosis, Pectu... ORPHA:1507
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Abnormal vertebral morphology, Sagittal craniosynostosis,... OMIM:218600
Ellis-Van Creveld Syndrome
Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs, Capitate-hamate fusion OMIM:225500
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Failure to thrive, Abnormality... ORPHA:2554
Coccidioidomycosis
Osteolysis, Abnormality of the vertebral column, Broad ribs, Atypical scarring of skin, Panniculi... ORPHA:228123
Fryns Syndrome
Short neck, Broad ribs, Thoracic hypoplasia, Polysplenia, Camptodactyly, Aplasia of the left hemi... OMIM:229850
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Bifid ribs, Kyphosis, Rib fusion, Ocular albinism, Joint stif... ORPHA:1606
Wolf-Hirschhorn Syndrome
Scoliosis, Accessory spleen, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnorm... OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Prominent sternum, Broad ribs, Barrel-shaped chest, Pectus carinatum, De... OMIM:276820
Vater/Vacterl Association
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormal sternum morphology, Fai... OMIM:192350
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia OMIM:270400
Renal Dysplasia-Limb Defects Syndrome
Thin ribs, Short neck, Short ribs, Short sternum OMIM:266910
Restrictive Dermopathy
Camptodactyly of finger, Arthrogryposis multiplex congenita, Thoracic kyphoscoliosis, Aplasia/Hyp... ORPHA:1662
Ulbright-Hodes Syndrome
Humeroradial synostosis, Short sternum, Short ribs, Thin ribs, Ovoid thoracolumbar vertebrae, Abn... ORPHA:3404
Pallister-Hall Syndrome
Decreased circulating cortisol level, Rib fusion, Hemivertebrae OMIM:146510
Dextrocardia
Abnormality of the ribs, Abnormality of the spleen ORPHA:1666
Pagod Syndrome
Abnormal clavicle morphology, Omphalocele, Congenital diaphragmatic hernia, Abnormality of the ri... ORPHA:991
Charge Syndrome
Scoliosis, Abnormality of the ribs, Abnormality of bone mineral density, Hemivertebrae ORPHA:138
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Pectus excavatum, Inguinal hernia, Knee flexion contracture, Short clavicles, U... OMIM:609945
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Charge Syndrome
Scoliosis, Hypocalcemia, Lymphopenia, Down-sloping shoulders, Omphalocele, Umbilical hernia, Hemi... OMIM:214800
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Horizontal ribs, Short ribs, Short clavicles, Splenomegaly OMIM:617088
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Hyperuricemia, Elevated circulating C-reac... ORPHA:97214
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hyperextensible hand joints, Rib fusion, Failure to thrive in infancy, Hemiv... ORPHA:500150
Townes-Brocks Syndrome
Abnormality of the ribs, Failure to thrive, Abnormal vertebral morphology ORPHA:857
Chromosome 1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Bifid ribs, Camptodactyly, Rib fusion, 11 pairs of ribs, Obesity OMIM:607872
Pallister-Hall Syndrome
Rib fusion, Umbilical hernia, Hemivertebrae, Inguinal hernia, Distal arthrogryposis, Large for ge... ORPHA:672

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 Mta1

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 Mta1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)