banner
Genes Phenotypes Help, News, Blog

Gene: Mta1 MGI:2150037

Log in to follow

Gene Summary

Name:
metastasis associated 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
trunk curl Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 1.30×10-05
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
increased lean body mass Mta1tm1a(EUCOMM)Wtsi HOM Early adult 3.17×10-05
decreased mean corpuscular volume Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.80×10-05
decreased sacral vertebrae number Mta1tm1a(EUCOMM)Wtsi HET   Early adult 9.14×10-06
increased thermal nociceptive threshold Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 7.67×10-05
abnormal bone mineralization Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.38×10-06
decreased caudal vertebrae number Mta1tm1a(EUCOMM)Wtsi HET Early adult 6.57×10-07
decreased sacral vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.77×10-06
abnormal tail morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 4.86×10-05
decreased lumbar vertebrae number Mta1tm1a(EUCOMM)Wtsi HET   Early adult 9.14×10-06
decreased body weight Mta1tm1a(EUCOMM)Wtsi HET Early adult 5.42×10-08
increased total body fat amount Mta1tm1a(EUCOMM)Wtsi HOM Early adult 1.20×10-05
decreased caudal vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.65×10-06
abnormal skin pigmentation Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 5.63×10-05
abnormal behavior Mta1tm1a(EUCOMM)Wtsi HOM Early adult 3.07×10-10
decreased lumbar vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.77×10-06
decreased circulating LDL cholesterol level Mta1tm1a(EUCOMM)Wtsi HOM Early adult 1.74×10-07
abnormal rib morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 2.03×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images
Mta1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Mta1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Mta1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Mta1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Mta1tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI

View all 206 images

Mta1tm1a(EUCOMM)Wtsi
tail skin, HOM, Female, WTSI
Mta1tm1a(EUCOMM)Wtsi
tail skin, HET, Female, WTSI
Mta1tm1a(EUCOMM)Wtsi
tail skin, HET, Female, WTSI

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
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, 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, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Coloboma Of Macula
Macular coloboma OMIM:120300
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... OMIM:128100
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Horizontal ribs, Hyperhomocystinemia,... OMIM:614857
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention... OMIM:610539
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Pectu... ORPHA:1979
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Osteolysis, Abnormal fo... ORPHA:93160
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Clavicular pseudarthros... OMIM:156530
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal form of the v... ORPHA:2180
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Failure to thrive ORPHA:1703
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Becker Nevus Syndrome
Lipoatrophy, Hypermelanotic macule, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Sup... ORPHA:64755
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Na... ORPHA:93267
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:600081
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verte... ORPHA:2234
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dystonia, Increased susceptibility to fractures OMIM:304700
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... ORPHA:2169
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... OMIM:271520
Achondrogenesis Type 1B
Femoral hernia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morpholo... ORPHA:93298
Hypophosphatasia
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hypercalcemia, Abnormal rib ... ORPHA:436
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Enlargement of the costochondral... OMIM:241530
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Inguinal hernia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Jo... OMIM:619122
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Inguinal hernia, Abnormal intervertebral disk morphology, Camptod... ORPHA:2311
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Opisthotonus, Increased susceptibility to fractures, Pigmentary retinopathy... ORPHA:216866
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Diastrophic Dysplasia
Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif... ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:264700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ... OMIM:166210
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Achondrogenesis Type 1A
Multiple rib fractures, Femoral hernia, Recurrent fractures, Short neck, Abnormal enchondral ossi... ORPHA:93299
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Recurrent fractures, Short neck, Camptodactyly of finger, Joint stiffne... ORPHA:2176
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormal ... ORPHA:1486
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... ORPHA:289157
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of... ORPHA:249
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin... ORPHA:93351
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Small for gestational age, Recurrent fractures, Beaded ribs, ... OMIM:616229
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Short tho... ORPHA:582
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-rea... OMIM:612852
Sandifer Syndrome
Torticollis, Hiatus hernia, Abnormal posturing, Anemia, Decreased cervical spine mobility ORPHA:71272
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Obesity, Thin ribs, Irregular vertebral endplates, Platyspondyly, Delay... OMIM:618395
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... ORPHA:1488
Grant Syndrome
Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyperflexibility, Narrow chest,... ORPHA:2097
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
3Q29 Microdeletion Syndrome
Pectus excavatum, Pectus carinatum, Abnormality of skin pigmentation, Joint hyperflexibility, Six... ORPHA:65286
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Femoral-Facial Syndrome
Inguinal hernia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segme... ORPHA:1988
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... OMIM:615633
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Scoliosis, Hypocholesterolemia OMIM:610883
White Forelock With Malformations
Abnormal rib morphology, Joint hyperflexibility, White forelock, Sprengel anomaly, Spina bifida o... ORPHA:2475
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junct... OMIM:277440
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormal posturing, Weight loss ORPHA:157941
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Deformed rib cage, Leukope... ORPHA:811
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Scoliosis, Neutro... OMIM:612562
Mucopolysaccharidosis, Type Iva
Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of t... OMIM:253000
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Delayed ossifica... OMIM:609616
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Fractured radius, Small for gestational age, Short neck, Bead... OMIM:616897
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Anterior rib cupping, Ovoid vert... OMIM:260400
Melnick-Needles Syndrome
Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects... ORPHA:2484
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... OMIM:617052
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Steatorrhea, Failu... OMIM:246700
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... OMIM:612561
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc... OMIM:252900
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave ve... OMIM:617952
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Thin... OMIM:259420
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly, Hernia, Broad ribs, ... ORPHA:583
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Short thorax, Abnormal rib mor... ORPHA:474
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroi... ORPHA:89936
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Failur... OMIM:560000
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Enamel hypoplasia, ... ORPHA:79402
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... ORPHA:2021
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Thin bony cortex, Inguinal ... OMIM:613848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia OMIM:237450
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... OMIM:200600
Cartilage-Hair Hypoplasia
Joint laxity, Lymphopenia, Macrocytic anemia, Lumbar hyperlordosis, Impaired lymphocyte transform... OMIM:250250
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Her... OMIM:252930
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thrive, Hypocholest... OMIM:607765
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple pre... OMIM:610915
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Splenomegaly, Reduced bone mineral density, Abnormality of skin pig... ORPHA:834
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Failure to thrive, Short neck, Congenital hypoplastic anemia... OMIM:105650
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sa... ORPHA:175
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Lipodystrophy, Kyphoscoliosis, Flexion contracture, Abnormality of skin pigmentation,... ORPHA:75496
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Renpenning Syndrome
Cachexia, Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly ORPHA:3242
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... OMIM:151210
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive OMIM:211600
Prune Belly Syndrome
Pectus excavatum, Abnormal rib morphology, Vertebral segmentation defect, Scoliosis, Failure to t... ORPHA:2970
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... OMIM:224300
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Obesity, Choreoathetosis, Scoliosi... ORPHA:261197
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification, Abnormalit... OMIM:300244
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
3M Syndrome
Scapular winging, Abnormal dental enamel morphology, Short neck, Hyperlordosis, Increased vertebr... ORPHA:2616
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Joint laxity, Scoliosis ORPHA:457260
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormality of the spleen... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Thrombo... OMIM:611209
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal... OMIM:616294
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolys... OMIM:614008
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Tremor, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture,... OMIM:212065
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Hypop... ORPHA:96061
Dyggve-Melchior-Clausen Disease
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Multicentric ossification of pro... OMIM:223800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum, Hernia of the abdominal wall ORPHA:3082
Juberg-Hayward Syndrome
Radioulnar synostosis, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Mucopolysaccharidosis, Type Ivb
Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia... OMIM:253010
Pontine Tegmental Cap Dysplasia
Head titubation, Rib fusion, Hemivertebrae, Scoliosis, Failure to thrive OMIM:614688
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicl... OMIM:228520
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho... OMIM:612921
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Stea... OMIM:212750
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Gm1-Gangliosidosis, Type I
Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated ... OMIM:230500
Cole-Carpenter Syndrome
Recurrent fractures, Abnormal dental enamel morphology, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:2050
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Inguinal hernia, Leukocytosis, Decreased body weight, Allodynia ORPHA:51890
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2876
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormal rib morphology, Neutropenia ORPHA:2643
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia of t... ORPHA:562
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Short neck, Erythroid h... ORPHA:124
Occipital Horn Syndrome
Osteopenia, Pectus carinatum, Narrow chest, Femoral hernia, Osteomalacia, Aplastic clavicle, Hiat... ORPHA:198
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Thin ribs, Hypocalcemia, Hypomagnesemia, Decreased skull ossifica... OMIM:244460
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hyperbilirubin... ORPHA:79303
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Congenital diaphragmatic h... ORPHA:2911
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Short neck, Pectus carinatum, Wrist flexion c... ORPHA:800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Small for gestational age, Pectus excava... OMIM:613658
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ... ORPHA:3068
Abetalipoproteinemia
Osteopenia, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholesterol conce... ORPHA:14
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Reticular hyperpigmentation, Premature graying o... OMIM:127550
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Eunuchoid habitus, Pectus excavatum, Thin ribs, Lumbar hemivertebrae, Loss of truncal... ORPHA:2463
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Splenomegaly, Limitation of jo... ORPHA:93473
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion con... OMIM:300232
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal... ORPHA:2769
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hyperlipidemia, Reduced bone mineral density, Abnormality of skin pigmentation, Mul... ORPHA:1414
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Decreased calvarial ossification, Decreased body weight, Arthrogrypo... OMIM:618265
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal dental enamel morphol... ORPHA:1452
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:312150
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Hyperostosis, Narro... ORPHA:73230
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic... ORPHA:93324
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Congenital diaphragmatic hernia, Short neck, ... ORPHA:958
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies... ORPHA:3258
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Oslam Syndrome
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Postaxial Acrofacial Dysostosis
Pectus excavatum, Radioulnar synostosis, Supernumerary vertebrae OMIM:263750
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Hernia, Scoliosis ORPHA:3378
Vici Syndrome
Hypopigmentation of hair, Failure to thrive, Elevated circulating creatine kinase concentration, ... OMIM:242840
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulat... OMIM:309000
Frontometaphyseal Dysplasia 1
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... OMIM:305620
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Broad ribs, Thin bony cortex ORPHA:85184
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok... OMIM:227810
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, Platyspondyly, ... ORPHA:1517
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Wilson Disease
Hemolytic anemia, Dystonia, Decreased circulating ceruloplasmin concentration, Osteomalacia, Hypo... OMIM:277900
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Dystonia, Titubation ORPHA:225147
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Alg12-Cdg
Hyponatremia, Camptodactyly, B lymphocytopenia, Abnormal adipose tissue morphology, Scoliosis, Ab... ORPHA:79324
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:253290
Alagille Syndrome
Failure to thrive, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segm... ORPHA:52
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Hyponatremia, Osteomalacia, Abnormal dental enamel morphology, Abnormal rib morpho... ORPHA:534
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... OMIM:615368
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Cystinosis
Hypokalemia, Failure to thrive, Rickets, Hypophosphatemia ORPHA:213
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Cachexia, Splenomegaly, Abnormality of skin pigmentation, Anemia ORPHA:2930
16Q24.3 Microdeletion Syndrome
Kyphosis, Thrombocytopenia, Increased mean corpuscular volume, Scoliosis ORPHA:261250
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Lateral clavicle hook, Pectus excava... OMIM:182212
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Splenomegaly, Flexion contracture, ... OMIM:608149
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Joint contracture of the hand, Foot joint contracture, Hypopigm... ORPHA:220402
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... OMIM:620076
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi... ORPHA:254534
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondroco... OMIM:250420
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly ... ORPHA:90652
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology, Congenital diaphragmatic hernia ORPHA:1120
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp... OMIM:618019
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morphology, Ab... ORPHA:2215
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Limitation of join... ORPHA:2990
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Scoliosis, Ar... ORPHA:2671
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Aspergillosis
Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormality of the vertebral column, Neutro... ORPHA:1163
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive ORPHA:2088
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Thin ribs OMIM:614833
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Rickets, Hypophosphatemia, Hypophosphatemic rickets, Rachitic rosary OMIM:612089
Occipital Horn Syndrome
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... OMIM:304150
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Stiff neck, Torticollis, Short neck, Hypoplasia of the thymus, N... OMIM:617022
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... OMIM:109400
Craniolenticulosutural Dysplasia
Posterior wedging of vertebral bodies, Abnormality of skin pigmentation, Joint hyperflexibility, ... ORPHA:50814
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Aicardi Syndrome
Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Ab... ORPHA:50
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia OMIM:152800
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Long clavicles, Multiple joint contractures, Thoracolumbar scoliosis, Down-slopi... OMIM:265000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, ... OMIM:271640
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Steatorrhea ORPHA:309031
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Craniosynostosis, Short ribs, Scoliosis, Broad ribs OMIM:252600
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Meier-Gorlin Syndrome 1
Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Lateral ... OMIM:224690
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ribs, Cervical ribs, Oste... OMIM:601812
Gracile Bone Dysplasia
Asplenia, Thin ribs, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to t... OMIM:602361
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Kaufman Oculocerebrofacial Syndrome
Bell-shaped thorax, Failure to thrive, Ovoid vertebral bodies, Hypocholesterolemia OMIM:244450
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Hypopigmented skin patches, Congenital diaphragmatic hernia, Missing ribs ORPHA:1647
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... ORPHA:3003
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Camptodactyly of finger, Abnormality of skin pigmentation, Scolios... ORPHA:2135
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Large for gestational age, Abnormal rib morphology, Joint... ORPHA:77301
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Large for gestational age, Limitation o... ORPHA:254519
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Recurrent fractures, Undulate ribs, Thin ribs, Subperiosteal bone fo... OMIM:618188
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia, Rickets, Large for gestational age OMIM:616026
Cohen Syndrome
Abnormality of retinal pigmentation, Failure to thrive in infancy, Pectus excavatum, Kyphosis, Ob... ORPHA:193
Vacterl/Vater Association
Omphalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Abnormal s... ORPHA:887
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, A... OMIM:253200
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ... OMIM:219800
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short neck, Joint stiffness... OMIM:252940
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Severe Congenital Nemaline Myopathy
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... ORPHA:171430
Sclerosteosis 1
Sclerotic scapulae, Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, ... OMIM:269500
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent ster... ORPHA:254528
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Failure to thrive, Inguinal hernia, Broad ... OMIM:151050
Stuve-Wiedemann Syndrome 1
Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion contracture,... OMIM:601559
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... ORPHA:18
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Thickened ribs, Craniosynostosis, Short neck, Pectus exca... ORPHA:309282
Craniometadiaphyseal Dysplasia
Osteopenia, Broad ribs, Sclerosis of skull base, Scoliosis OMIM:269300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Short thorax, Abnormal rib... ORPHA:261344
Hallermann-Streiff Syndrome
Small for gestational age, Hyperlordosis, Pectus excavatum, Thin ribs, Choreoathetosis, Abnormal ... OMIM:234100
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Failure to thrive, Tracheomalacia, Pectus excavatum, Craniofacial osteosclerosis, St... OMIM:300373
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Spleno... ORPHA:581
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormal ... ORPHA:2092
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Incontinentia Pigmenti
Camptodactyly of finger, Eosinophilia, Abnormal dental enamel morphology, Hypopigmented skin patc... ORPHA:464
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Hypoplastic scapulae, Tarsal synostosis, Craniosynostosis, ... ORPHA:95699
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Abnormality of skin... OMIM:227650
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Abnormal rib morphology, Reduced bon... ORPHA:667
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Abnorma... ORPHA:280
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Nonketotic hyperglycinemia, Scoliosis, Joint stiffness ORPHA:1300
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Congenital diaphragmatic hernia, Hemivertebra... OMIM:200980
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... OMIM:600920
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... OMIM:114290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosi... ORPHA:85167
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Aicardi Syndrome
Block vertebrae, Missing ribs, Hiatus hernia, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifi... OMIM:304050
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Splenopancr... OMIM:269150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Narrow chest, Interpha... ORPHA:96334
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Bone spicule pigmentation of the retina, Rickets, Recurrent fractures OMIM:268315
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Mildly elevated creatine kinase, Thin ribs ORPHA:169189
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... OMIM:607778
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Tremor, Kyphosis, Splenomegaly, L... OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Hyperlordosis, Obesity, Hepatosplenomegaly, Umbilical hernia, Broad... OMIM:301066
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Recurrent fractures, Pectus excavatum, Multiple prenatal frac... OMIM:610682
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... ORPHA:411629
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Platysp... OMIM:211350
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Calcaneal epip... OMIM:117650
Eiken Syndrome
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Delayed tarsal ossificatio... OMIM:600002
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Splenomegaly, Short thorax, Thora... OMIM:269860
Myhre Syndrome
Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffness, Abnormal rib morphol... ORPHA:2588
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... ORPHA:2636
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs, Thin bony co... OMIM:277600
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Incontinentia Pigmenti
Eosinophilia, Kyphoscoliosis, Scarring, Leukocytosis, Hemivertebrae, Abnormality of skin pigmenta... OMIM:308300
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Sho... OMIM:268310
Xylt1-Cdg
Joint laxity, Broad ribs, Truncal obesity, Short clavicles ORPHA:370930
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Proteus Syndrome
Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of skin pigmentation, A... ORPHA:744
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Tremor, Retinal pigment epithelial mottling... OMIM:216400
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion, Inguinal hernia, Large for gestational age ORPHA:544488
Alagille Syndrome 1
Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Pigmentary retinopathy, Hypercholes... OMIM:118450
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Pectus exc... ORPHA:2785
Trisomy 18
Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat... ORPHA:3380
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Weight loss, Increased susceptibility to fractures, H... ORPHA:3337
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Osteoporosis, Thin ribs, Platyspondyly... OMIM:225400
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Abnormal rib morphology, Spina bifida occulta, Thickened cortex of long b... ORPHA:488434
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Congenital diaphragmatic hernia, Pectus excavatum, Splenomegaly, Pectus carinatu... OMIM:312870
Dubowitz Syndrome
Sacral dimple, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia OMIM:223370
Alkaptonuria
Joint stiffness, Osteoarthritis, Reduced bone mineral density, Abnormality of skin pigmentation, ... ORPHA:56
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Simpson-Golabi-Behmel Syndrome
Omphalocele, Vertebral fusion, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:373
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:263520
Kbg Syndrome
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis OMIM:148050
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Autosomal Recessive Robinow Syndrome
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis, ... ORPHA:1507
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Rickets OMIM:219900
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Joint stiffness, Elbow flexion contracture, Spinal canal stenosis, Umbilica... OMIM:608328
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Limitation of joint mobility, Abnormal rib morpholog... ORPHA:261112
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... OMIM:250220
Femoral-Facial Syndrome
Inguinal hernia, Limited elbow movement, Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae... OMIM:134780
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Long clavicles, Severe B lymphocytopenia, Contracture of the distal interphalang... ORPHA:83617
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Horizontal ribs OMIM:613091
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short neck, Joint stiffness, Limitation of joint mob... OMIM:139210
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Joint stiffness, Pectus excavatum, Fle... OMIM:619127
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Splenomegaly, Hypocalcemic seizures,... OMIM:612301
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Decreased calvarial ossification, Long thorax, Narrow chest, S... OMIM:617925
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Abnormal rib morphology, Hypopigmented skin patches, Joint hyperflexibil... ORPHA:2907
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contracture, Abnormal rib mor... ORPHA:2908
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Cervical ribs, Scolio... OMIM:617140
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Sho... ORPHA:818
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Inguinal hernia, Failure to thrive in infa... ORPHA:798
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Short nec... OMIM:208150
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Missing ribs, Rib fusion, He... ORPHA:97360
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Pseudo-Torch Syndrome 2
Thrombocytopenia, Thin ribs OMIM:617397
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures, Lipo... ORPHA:405
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Fused cervical vert... OMIM:157800
Fryns Syndrome
Omphalocele, Short neck, Large for gestational age, Thin ribs, Aplasia of the left hemidiaphragm,... OMIM:229850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... OMIM:208500
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Inguinal hernia, Thickened ribs, Camptodactyly of finger, Sp... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Inguinal hernia, Thickened ribs, Camptodactyly of finger, Sp... ORPHA:217093
Cranioectodermal Dysplasia 2
Joint laxity, Inguinal hernia, Craniosynostosis, Short neck, Pectus excavatum, Splenomegaly, Shor... OMIM:613610
Smith-Lemli-Opitz Syndrome
Sacral dimple, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydr... OMIM:270400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Unicoronal synostosis, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Coccidioidomycosis
Osteomyelitis, Eosinophilia, Abnormality of the spleen, Osteolysis, Atypical scarring of skin, Ar... ORPHA:228123
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Abnormal rib morphology, Joint hype... ORPHA:2554
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs OMIM:225500
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Accessory spleen, Small for gest... OMIM:194190
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... OMIM:264090
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Platyspondyly, Sclerosis of skull base, Broad ribs, Thin bony cortex OMIM:619727
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, ... ORPHA:1606
Vater/Vacterl Association
Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Failure t... OMIM:192350
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle... OMIM:276820
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Inguinal hernia, Craniosynostosis, Short neck, Pectus excavatum, Undulate ribs, Knee... OMIM:609945
Pallister-Hall Syndrome
Decreased circulating cortisol level, Rib fusion, Hemivertebrae OMIM:146510
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Stippled calcification of the shoulder, Abnormal calc... ORPHA:51608
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Dextrocardia
Abnormality of the spleen, Abnormal rib morphology ORPHA:1666
Ulbright-Hodes Syndrome
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... ORPHA:3404
Baller-Gerold Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Rib fusion, Limited shoulder... OMIM:218600
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Charge Syndrome
Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Pagod Syndrome
Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the sp... ORPHA:991
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagittal craniosynostosis, Ri... ORPHA:500150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Charge Syndrome
Omphalocele, Down-sloping shoulders, Abnormal rib morphology, Hemivertebrae, Hypocalcemia, Scolio... OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Rib fusion, Obesity, Scoliosis, Bifid ribs, Camptodactyly OMIM:607872
Townes-Brocks Syndrome
Failure to thrive, Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Pallister-Hall Syndrome
Inguinal hernia, Large for gestational age, Rib fusion, Hemivertebrae, Distal arthrogryposis, Umb... 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) Mta1tm1a(EUCOMM)Wtsi PMC6671969
The Nucleosome Remodelling and Deacetylation complex suppresses transcriptional noise during lineage commitment. The EMBO journal (April 2019) Mta1tm1a(EUCOMM)Wtsi PMC6576150
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mta1tm1aWtsi Mta1tm1aWtsi PMC6459510
Optimising experimental design for high-throughput phenotyping in mice: a case study. Mammalian genome : official journal of the International Mammalian Genome Society (August 2010) Mta1tm1a(EUCOMM)Wtsi PMC2974211

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mta1tm39847(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mta1em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Mta1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter