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Gene: Dppa4 MGI:2157525

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

developmental pluripotency associated 4

Synonyms:

ECAT15-1, 2410091M23Rik

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dppa4 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.

Human diseases associated with Dppa4 (0 diseases)
Human diseases predicted to be associated with Dppa4 (397 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dppa4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Infertility, Atelectasis	OMIM:615872
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad...	ORPHA:3268
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal rib morphology, Death in infancy, Abnormal...	ORPHA:1354
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:619466
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Thin ribs, Death in infancy, Neonatal death, Joint hypermobility	OMIM:300219
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Recurrent pneumonia, Atelectasis	OMIM:615294
Jeune Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Acute Interstitial Pneumonia	Ground-glass opacification, Atelectasis, Pleural effusion, Parenchymal consolidation, Bronchiecta...	ORPHA:79126
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Tracheobronchomalacia, Pulmonary sequestration, Abnormal lung morphology	ORPHA:70589
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Thoracic Dysostosis, Isolated	Recurrent respiratory infections, Short ribs, Bell-shaped thorax, Pectus excavatum	OMIM:187750
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Abnormal thorax morphology	ORPHA:70587
C1Q Deficiency 2	Bronchiectasis, Arthritis, Atelectasis, Recurrent lower respiratory tract infections	OMIM:620321
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Meconium Aspiration Syndrome	Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele...	ORPHA:70588
Waardenburg Syndrome Type 3	Atelectasis, Tracheomalacia, Abnormal finger morphology, Synostosis of carpal bones, Joint stiffn...	ORPHA:896
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ...	ORPHA:254361
Kyphomelic Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Short thorax, Flat acetabula...	ORPHA:1801
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Narrow chest, Coxa vara, Anterior rib cupping, Recurrent pneumonia,...	OMIM:602271
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Di...	ORPHA:79127
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Narrow chest, Bowing of the long bones, Abnormal rib m...	ORPHA:436
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Short-Rib Thoracic Dysplasia 12	Short finger, Atelectasis, Narrow chest, Short thorax, Short ribs, Short long bone, Horizontal ri...	OMIM:269860
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Atelectasis, Parenchymal consolidation, Elevated bronchoalveolar lava...	OMIM:610978
Primary Ciliary Dyskinesia	Male infertility, Atelectasis, Pulmonary situs ambiguus, Clubbing, Abnormal sperm motility, Recur...	ORPHA:244
Metatropic Dysplasia	Narrow greater sciatic notch, Short ribs, Long coccyx, Cupped ribs, Flared iliac wing, Flat aceta...	OMIM:156530
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp...	ORPHA:2357
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections	ORPHA:922
Cutis Laxa-Marfanoid Syndrome	Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip dislocation	ORPHA:171719
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imaging finding, Atelectasis, Pleural e...	ORPHA:2902
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Brachydactyly, Abnormal epiphysis morphology, Recurrent respiratory infe...	ORPHA:2643
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology	ORPHA:1513
Recurrent Respiratory Papillomatosis	Atelectasis, Tracheomalacia, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respi...	ORPHA:60032
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Superior rib anomalies, Hypergonadotropic hypogonadism	OMIM:307500
Diastrophic Dysplasia	Abnormal clavicle morphology, Short finger, Abnormal metaphysis morphology, Proximal placement of...	ORPHA:628
Farber Disease	Short finger, Abnormality of the wrist, Atelectasis, Abnormality of the elbow, Abnormal sternum m...	ORPHA:333
Grant Syndrome	Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Wormian bones, Bowing of the ...	ORPHA:2097
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections	ORPHA:3348
Surfactant Metabolism Dysfunction, Pulmonary, 3	Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ...	OMIM:610921
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1506
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Re...	ORPHA:60033
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Abnormal rib morphology, Posterior rib fusion, Intrauterine growth re...	ORPHA:1797
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Emphysema, Hip dislocation	OMIM:614100
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Death in adolescence, Cranio...	OMIM:122860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint dislocation, Repeated pneumothoraces, Pectus carinatum, Pectus excavatum, Arachnod...	ORPHA:536467
Achondrogenesis, Type Ia	Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hypop...	OMIM:200600
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal rib morphology, Abnormal enchondral ossification, Short foot...	ORPHA:93298
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Rib fusion	OMIM:608681
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Abn...	ORPHA:3035
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyly, Intrauterine growth retard...	ORPHA:2145
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Decreased cranial base ossification, Narrow chest, Metaphyseal cupping, Hypoplastic p...	OMIM:151210
Interstitial Lung Disease 1	Ground-glass opacification, Clubbing, Intralobular septal thickening, Nonspecific interstitial pn...	OMIM:619611
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ...	OMIM:612387
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Atelectasis, Joint hypermobility, Craniosynostosis, Recurrent respiratory infections,...	ORPHA:2314
Aspergillosis	Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal long bone morphology, Pleuriti...	ORPHA:1163
Achondrogenesis Type 1A	Narrow chest, Short thorax, Recurrent fractures, Abnormal enchondral ossification, Short palm, Mu...	ORPHA:93299
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187601
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Multip...	OMIM:259440
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Thanatophoric Dysplasia, Type I	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187600
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost...	OMIM:187760
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Joint hypermobility, Pectus excavatum, Abnormal rib morp...	OMIM:602196
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thu...	ORPHA:1120
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Block vertebrae, Rib fusion, Recurrent respiratory infections, Vertebral fusion	OMIM:277300
Ciliary Dyskinesia, Primary, 1	Male infertility, Atelectasis, Recurrent bronchitis, Bronchiectasis, Pneumonia	OMIM:244400
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Post...	OMIM:617895
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Proximal placement of thumb, Narrow...	ORPHA:93267
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Genu valgum, Enlargement of the costochondral junction, Short metatarsal...	OMIM:271650
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Flared, irregular rib ends, Limitation of joint mobility, Coxa vara	ORPHA:168555
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Greenberg Dysplasia	Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal fr...	OMIM:215140
Idiopathic Pulmonary Fibrosis	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Reticular pattern on pulm...	ORPHA:2032
Cat-Eye Syndrome	Intrauterine growth retardation, Abnormal rib morphology, Hip dysplasia	ORPHA:195
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone...	ORPHA:239
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Short long bone, Fl...	OMIM:269250
Phaver Syndrome	Triphalangeal thumb, Pterygium, Pulmonary artery atresia, Abnormal rib morphology, Broad thumb, C...	ORPHA:2876
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Death in childhood, Emphysema, Atelectasis, Sandal gap, Tracheomalacia, Death in infa...	OMIM:613177
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo...	OMIM:620233
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic pub...	OMIM:609616
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk...	ORPHA:93324
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:600081
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab...	ORPHA:2319
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Rib fusion, Contracture of the proximal interphalan...	OMIM:609813
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Decreased calvarial ossification, Intrauterine growth retardation, Joint...	ORPHA:2772
Poland Syndrome	Short ribs, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, Rib fusion, Unilateral brachyd...	OMIM:173800
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Pulmonary hypoplasia, Flexion cont...	OMIM:312150
Mosaic Trisomy 14	Camptodactyly of finger, Narrow chest, Abnormal rib morphology	ORPHA:1703
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Wormian bones, Short ribs, Pleural effusion, Decreased skull ossif...	OMIM:616897
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Intrauterine growth ...	OMIM:224690
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Th...	OMIM:166210
Surfactant Metabolism Dysfunction, Pulmonary, 1	Ground-glass opacification, Intraalveolar phospholipid accumulation, Clubbing, Death in infancy, ...	OMIM:265120
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia of the calca...	OMIM:300863
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r...	OMIM:200610
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology, Arachnodactyly, Joint hype...	ORPHA:2759
Osteogenesis Imperfecta, Type X	Osteopenia, Death in childhood, Fibular bowing, Genu valgum, Narrow chest, Thin ribs, Tibial bowi...	OMIM:613848
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased...	OMIM:244460
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Pulmonary hypoplasia, Flexion cont...	OMIM:253290
Prune Belly Syndrome	Pectus excavatum, Abnormal rib morphology, Congenital hip dislocation, Recurrent respiratory infe...	ORPHA:2970
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Emphysema, Slender long bone, Genu recurvatum, Patellar aplasia, Intrauter...	OMIM:613804
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Decreased fertility, Abnormal rib morphology, Hypogonadism	ORPHA:2234
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Abnormal clavicle morphology, Hypoplasia of the radius, Hypoplasia of the...	ORPHA:958
Cleidocranial Dysplasia	Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph...	ORPHA:1452
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Coxa...	ORPHA:1988
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar...	ORPHA:73230
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss...	OMIM:208500
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Chronic bronchitis, Panacinar emphysema	OMIM:613490
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea...	OMIM:618395
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Fused cervical vertebrae, Flaring of rib cage, Osteomyelitis, Broad ribs...	OMIM:612852
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Azoospermia	ORPHA:2578
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal rib morphology, Sprengel anomaly, Joi...	ORPHA:2475
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal rib morphology, Sprengel ...	ORPHA:2345
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Del...	OMIM:241530
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p...	ORPHA:3082
Mucopolysaccharidosis, Type Iva	Genu valgum, Pectus carinatum, Prominent sternum, Osteoporosis, Recurrent pneumonia, Constricted ...	OMIM:253000
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:607778
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis	OMIM:604571
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy, Metaphyseal cu...	ORPHA:163966
Ciliary Dyskinesia, Primary, 20	Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,...	OMIM:615067
Autosomal Recessive Spondylocostal Dysostosis	Short thorax, Finger syndactyly, Anomalous pulmonary venous return, Abnormal rib morphology, Camp...	ORPHA:2311
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Pectus excavatum, Pulmonary fibrosis, Recurrent respiratory infe...	OMIM:618278
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Flexion contracture, Intercostal muscle weakness, Atelectasis, Recurrent lower respiratory tract ...	ORPHA:258
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly...	ORPHA:538
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, T...	OMIM:602111
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Pectus exca...	ORPHA:2522
Cooper-Jabs Syndrome	Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Missing ...	ORPHA:1488
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema	ORPHA:1164
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Surfactant Metabolism Dysfunction, Pulmonary, 2	Ground-glass opacification, Intraalveolar phospholipid accumulation, Nonspecific interstitial pne...	OMIM:610913
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Genu valgum, Atelectasis, Azoospermia, Arthritis, Osteomalacia, A...	ORPHA:534
Sprengel Deformity	Sprengel anomaly, Rib segmentation abnormalities	OMIM:184400
Spondylocostal Dysostosis 5	Pectus carinatum, Missing ribs, Supernumerary ribs, Posterior rib fusion, Vertebral fusion	OMIM:122600
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol...	ORPHA:3242
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short finger, Small epiphyses, Thin ribs, Thoracic kyphosis, Prominent sternum, Wormian bones, Fl...	OMIM:300232
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:264700
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c...	ORPHA:3068
Becker Nevus Syndrome	Abnormal tibia morphology, Pectus carinatum, Pectus excavatum, Supernumerary ribs, Rib fusion	ORPHA:64755
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Hammertoe, Tracheomalacia, Pulmonary artery atresia, Pectus excavatum, Pulmonary hyp...	OMIM:620371
Dysosteosclerosis	Diaphyseal undertubulation, Osteopenia, Clavicular sclerosis, Abnormal metaphyseal trabeculation,...	OMIM:224300
Whim Syndrome	Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re...	ORPHA:51636
Severe Congenital Nemaline Myopathy	Thin ribs, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Adducted thumb...	ORPHA:171430
Osteogenesis Imperfecta, Type Xv	Joint hypermobility, Thin ribs, Bowing of limbs due to multiple fractures, Recurrent fractures	OMIM:615220
Trisomy 13	Abnormal lung lobation, Narrow chest, Postaxial hand polydactyly, Abnormal pelvic girdle bone mor...	ORPHA:3378
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Interphalangeal jo...	ORPHA:1145
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Narrow chest, Hypoplastic pulmonary veins, Femoral retroversion,...	OMIM:610682
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing...	ORPHA:3301
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Azoospermia	OMIM:601076
Antley-Bixler Syndrome	Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Joint stif...	ORPHA:83
Mucopolysaccharidosis, Type Ivb	Genu valgum, Cervical subluxation, Prominent sternum, Osteoporosis, Joint stiffness, Hypoplasia o...	OMIM:253010
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Zygomycosis	Pneumothorax, Atelectasis, Acute infectious pneumonia, Pleural effusion, Parenchymal consolidatio...	ORPHA:73263
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Bell-shaped t...	OMIM:616300
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Atelectasis, Pleural effusion, Recurrent pneumonia, Osteomyelitis	OMIM:306400
Lethal Congenital Contracture Syndrome 10	Stiff neck, Narrow chest, Short long bone, Femoral bowing, Pulmonary hypoplasia, Thoracic scolios...	OMIM:617022
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Genu valgum, Reduced bone mineral density, Joint dislocation, Sho...	ORPHA:582
Osteogenesis Imperfecta, Type Iii	Slender long bone, Thin ribs, Tibial bowing, Multiple prenatal fractures, Decreased calvarial oss...	OMIM:259420
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Wormian bones, Bowing of the long bones, Abn...	ORPHA:2050
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections	OMIM:252920
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Narrow chest, Angulated humerus, Recurrent fractures, Short long bone, Wormian bones,...	OMIM:616229
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Lujo Hemorrhagic Fever	Stiff neck, Atelectasis	ORPHA:319213
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Thin ribs, Decreased calvarial ossification, Brachydactyly, Craniosynostosis, ...	OMIM:618265
Three M Syndrome 2	Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Scapular winging, Prominent calcane...	OMIM:612921
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Campomelia, Cumming Type	Bowing of the long bones, Abnormal rib morphology, Death in infancy, Abnormally ossified vertebra...	ORPHA:1318
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Mucopolysaccharidosis, Type Iiia	Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections	OMIM:252900
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Wormian bones, Bowing of the long bones, Generalized osteoporosis, Joi...	OMIM:617952
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Brachydactyly, Sprengel anomaly, Abnormal rib morphology, Sandal gap	ORPHA:2180
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Missing ribs, Abnormal rib morphology, Abnormality of the...	ORPHA:1834
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ...	OMIM:620076
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal rib morphology, Sprengel anomaly, Abnormal vertebral se...	OMIM:118100
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ...	ORPHA:90652
Dextrocardia	Abnormal lung lobation, Abnormal rib morphology, Congenital hip dislocation, Abnormal pulmonary s...	ORPHA:1666
Osteogenesis Imperfecta, Type Viii	Osteopenia, Barrel-shaped chest, Slender long bone, Femoral retroversion, Thin ribs, Tibial bowin...	OMIM:610915
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Thin ribs, Pectus excavatum, Coronal ...	OMIM:616294
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Atelectasis, Arthritis, Multiple suture craniosynostosis, Foot polydactyl...	ORPHA:567
Chand Syndrome	Short fifth metatarsal, Atelectasis	ORPHA:1401
Kagami-Ogata Syndrome	Long clavicles, Bell-shaped thorax, Thin ribs, Long fingers, Pulmonary hypoplasia, Flexion contra...	OMIM:608149
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro...	ORPHA:2519
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, P...	OMIM:211350
Radio-Renal Syndrome	Hypoplasia of the radius, Chylothorax, Pleural effusion, Abnormal rib morphology, Short palm, Bra...	ORPHA:3015
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Thin ribs, Flexion contracture, Death in infancy	OMIM:615368
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Pectus excavatum, Arachnodactyly, Joint hypermobility, Recurrent respiratory infection...	OMIM:219100
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femora...	ORPHA:370930
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe...	OMIM:271665
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Short...	ORPHA:3003
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Femoral ...	OMIM:613091
Autosomal Recessive Multiple Pterygium Syndrome	Popliteal pterygium, Axillary pterygium, Multiple pterygia, Pterygium, Finger syndactyly, Abnorma...	ORPHA:2990
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wormian bones, Coxa valga, Broad long...	OMIM:269300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Hip dislocation, Long cla...	OMIM:265000
Congenital Myopathy 22B, Severe Fetal	Tapered toe, Slender long bone, Shoulder flexion contracture, Thin ribs, Elbow flexion contractur...	OMIM:620369
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Rickets, Abnormal femur morphology, Abnormal tibia morphology, Oste...	ORPHA:249
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis, Flexion contracture, Osteoporosis	ORPHA:365
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Epiphyseal dysplasia, Joint stiffness, Recurrent upp...	ORPHA:583
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren...	OMIM:245150
Ellis-Van Creveld Syndrome	Genu valgum, Narrow chest, Pectus carinatum, Hypoplastic iliac wing, Short long bone, Short ribs,...	OMIM:225500
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Death in infancy, ...	OMIM:602361
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Emphysema, Pulmonary fibrosis	OMIM:620365
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow chest, Thin ribs, Elbow flexion contract...	OMIM:200980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped...	OMIM:271640
Ellis Van Creveld Syndrome	Genu valgum, Emphysema, Cubitus valgus, Narrow chest, Short thorax, Synostosis of carpal bones, A...	ORPHA:289
Van Den Ende-Gupta Syndrome	Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Slender met...	OMIM:600920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot...	OMIM:263520
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections	OMIM:252930
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,...	ORPHA:217563
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint hypermobility, Prominent sternum, Pectus excavatum, Camptodactyly, Wrist flexion contractur...	ORPHA:254528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili...	OMIM:618019
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Abnorm...	ORPHA:175
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense lo...	OMIM:269500
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Abnormal rib morphology, Congenital hip dislocation, Aplasia/Hyp...	ORPHA:1647
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Narrow chest, Thin ribs, Femoral bowing, Short ribs, Sh...	OMIM:618188
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Short thorax, Pectus excavatum, Missing ribs, Block vertebrae, Rib fusion, Ve...	OMIM:613686
Hurler Syndrome	Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormality of the elbow, Limitation...	ORPHA:93473
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Slender metacarp...	OMIM:620601
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Death in childhood, Death in infancy, Recurrent pneumonia, Abnorma...	OMIM:612301
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Short ribs, Missing ribs, Pulmonary hypoplasia, Block vertebrae, Rib fusion, Vertebral...	OMIM:271520
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Flared metaphysis, Short long bone, Metaphyseal spurs, Short metaca...	ORPHA:85167
Vacterl/Vater Association	Finger syndactyly, Abnormal rib morphology, Aplasia/Hypoplasia of the radius, Preaxial hand polyd...	ORPHA:887
Poland Syndrome	Reduced bone mineral density, Asymmetry of the thorax, Abnormal sternum morphology, Pectus carina...	ORPHA:2911
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Intrauterine growth ...	OMIM:146510
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Arthritis, Emphysema, Joint dislocation	ORPHA:36412
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Short long bone, Shallow acetabular fossae, Posterior rib gap, Camptodactyly, Rib fus...	OMIM:611209
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Short long bone, Short ribs, Split hand, Limitation of joint mobility, Ir...	OMIM:252600
Relapsing Polychondritis	Arthritis, Limitation of joint mobility, Atelectasis	ORPHA:728
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Abnormal rib morphology, Short distal pha...	ORPHA:52
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Miscarri...	ORPHA:96334
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Dislocated...	ORPHA:666
T-Cell Immunodeficiency With Thymic Aplasia	Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections	OMIM:242700
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog...	ORPHA:2769
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Pseudo-Torch Syndrome 2	Thin ribs, Pleural effusion	OMIM:617397
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Hypermobility of distal interphalangeal joints, Emphysema, Osteolytic defects of th...	OMIM:130050
Mucopolysaccharidosis, Type Vi	Metaphyseal irregularity, Genu valgum, Pectus carinatum, Hypoplastic iliac wing, Hypoplastic acet...	OMIM:253200
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Short metacarpal, Abnormal rib morphology, Iliac crest serration, Short palm, Metap...	ORPHA:93317
Trisomy 1Q	Short thorax, Abnormal rib morphology, Arachnodactyly, Camptodactyly of finger, Preaxial hand pol...	ORPHA:261344
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Osteopenia, Genu valgum, Dislocated radial head, Pectus carinatum, Thin ri...	OMIM:182212
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Pectus excavatum, Abnormal rib morphology, Prominent metopic ridge, Metatarsus...	ORPHA:2215
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epiphyseal stippling, Shor...	ORPHA:79345
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe...	OMIM:114290
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Pathologic fracture, Joint subluxation, Recurrent pneumonia, Intrauterin...	ORPHA:90349
Mucopolysaccharidosis, Type X	Genu valgum, Spatulate ribs, Broad clavicles, Irregular acetabular roof, Hip dysplasia, Broad ribs	OMIM:619698
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema, Abnormal sternum morphology, Arachnodactyly, Protrusio acetabuli, Joint ...	OMIM:614816
Schwartz-Jampel Syndrome	Flexion contracture of toe, Pectus carinatum, Abnormally ossified vertebrae, Pectus excavatum, De...	ORPHA:800
Neonatal Marfan Syndrome	Emphysema, Pectus carinatum, Enlarged thorax, Arachnodactyly, Long fingers, Flexion contracture, ...	ORPHA:284979
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Emphysema	ORPHA:60
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Death in infancy, Pulmonary artery hypopla...	ORPHA:991
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Miscarriage	ORPHA:169189
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Stillbirth, Slender long bone, Thin ribs, Wrist flexion contracture, Congenit...	OMIM:208150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Flared metaphysis, Metaphyseal cupping, Femoral bowin...	OMIM:608940
Gorlin Syndrome	Abnormal rib morphology, Rib fusion, Arachnodactyly, Anterior rib cupping, Brachydactyly, Bifid r...	ORPHA:377
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture	OMIM:614833
Ulbright-Hodes Syndrome	Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Severe intrauteri...	ORPHA:3404
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Horizontal ribs, Bell-shaped thorax	OMIM:614857
Myhre Syndrome	Abnormal metaphysis morphology, Craniofacial hyperostosis, Large iliac wing, Intrauterine growth ...	ORPHA:2588
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla	OMIM:619632
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Thin ribs, Osteolytic defects of the distal phalanges of the hand, Osteop...	OMIM:614008
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Narrow chest, Bowing...	ORPHA:667
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Narrow chest, Pectus carinatum, Broad clavicles, Short clav...	OMIM:304150
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Slender long bone, Thin metatar...	ORPHA:2463
Premature Aging Syndrome, Penttinen Type	Slender long bone, Recurrent fractures, Thin ribs, Tibial bowing, Osteolytic defects of the dista...	OMIM:601812
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Narrow chest, Limitation of joint mobility, Abnormal rib morpholo...	ORPHA:96061
Cantú Syndrome	Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Osteoporosis, Broa...	ORPHA:1517
Netherton Syndrome	Recurrent respiratory infections, Emphysema	ORPHA:634
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Joint stiffness, Thickened ribs, Death in infancy	OMIM:230500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Broad clavicles, Pectus carinatum, Femoral ...	OMIM:276820
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Split hand, Abnormal rib morphology, Joint stiffness, Toe...	ORPHA:1300
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Emphysema, Bone cyst, Arthritis, Clubbing, Pleural ef...	OMIM:181000
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Abnormal sternum morphology, Short ribs, Sprengel anomaly, Sup...	OMIM:109400
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Genu valgum, Reduced bone mineral density, Craniofacial hyperostosi...	ORPHA:581
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Joint hypermobility, Flared metaphysis, Broad clavicles, Hyperextensi...	OMIM:151050
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Talipes valgus, Genu valgum, Craniosynostosis, Pectus carinatum...	ORPHA:309282
Congenital Tracheomalacia	Pneumothorax, Emphysema, Tracheomalacia, Tracheobronchomalacia, Parenchymal consolidation, Bronch...	ORPHA:95430
Meier-Gorlin Syndrome 6	Emphysema, Sandal gap, Tracheobronchomalacia, Short middle phalanx of finger, Patellar aplasia, H...	OMIM:616835
Craniorachischisis	Bifid sternum	ORPHA:63260
Marfan Syndrome	Pneumothorax, Limited elbow extension, Emphysema, Hammertoe, Genu recurvatum, Pectus carinatum, P...	OMIM:154700
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Slender long bone, Tracheomalacia, Thin ribs, W...	OMIM:234100
Autosomal Recessive Robinow Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Finger syndactyly, Pect...	ORPHA:1507
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Death in childhood, Emphysema, Pectus excavatum, Bowing of the long bo...	OMIM:614437
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Bifid ribs, Narrow chest, Rib fusion	ORPHA:1394
Digeorge Syndrome	Atelectasis, Intervertebral disk degeneration, Recurrent pneumonia, Recurrent sinusitis, Patellar...	OMIM:188400
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Osteolysis, Arthritis, Pleural emp...	ORPHA:228123
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em...	OMIM:613658
Fryns Syndrome	Rocker bottom foot, Stillbirth, Proximal placement of thumb, Chylothorax, Thin ribs, Prominent fi...	OMIM:229850
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Limited shoul...	OMIM:134780
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Bifid ribs, Narrow chest, Craniosynostosis, Hyperextensibility of the finger joints, Postaxial ha...	OMIM:213980
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Emphysema, Pectus carinatum, Pe...	ORPHA:558
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowin...	OMIM:269150
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Intrauterine growth retardat...	ORPHA:2554
Mucopolysaccharidosis, Type Iiid	Elbow flexion contracture, Epiphyseal dysplasia, Joint stiffness, Achilles tendon contracture, Hi...	OMIM:252940
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, 10 pairs of ribs, Clinodactyly of the 5th finger, 11 pairs ...	OMIM:117650
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Knee flexion contracture, Bronchiectasis, Interstitial emphysema, Overlappi...	OMIM:619708
Autosomal Dominant Cutis Laxa	Osteopenia, Emphysema, Joint hypermobility, Genu recurvatum, Delayed cranial suture closure, Worm...	ORPHA:90348
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections	ORPHA:1572
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Dislocated radial head, Pectus excavatum, Broad thumb, Syndactyly, Sh...	OMIM:268310
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Short hallux, Aplasia/Hypoplasia of the lungs, Split hand, Osteoporosis,...	ORPHA:280
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal rib morphology, Broad femoral neck, Thickened cortex of long bones, Short fo...	ORPHA:488434
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of...	OMIM:148050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Thin ribs, Osteoporosis, Congenital hip dislocation, Arachnodactyl...	OMIM:225400
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Proximal placement of thumb, Abnormal metacarpal morphology, Finger synda...	ORPHA:818
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Death in childhood, Osteolytic defects of the phalanges of the hand, Genu valgum, San...	OMIM:619127
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Hand polydactyly, Rib fusion	ORPHA:261197
Trisomy 18	Abnormal hip bone morphology, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of f...	ORPHA:3380
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Thin bony cort...	OMIM:277600
Monosomy 9Q22.3	Polydactyly, Pectus excavatum, Abnormal rib morphology, Joint hypermobility, Metopic synostosis	ORPHA:77301
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion	OMIM:614688
Restrictive Dermopathy	Osteopenia, Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Decreased skull ossification, Art...	ORPHA:1662
Aicardi Syndrome	Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Recurrent pneumonia, B...	OMIM:304050
Cranioectodermal Dysplasia 2	Polydactyly, Narrow chest, Metopic synostosis, Short ribs, Postaxial hand polydactyly, Pectus exc...	OMIM:613610
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, Short ribs, Postaxial ...	OMIM:617088
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor...	ORPHA:2907
Coffin-Lowry Syndrome	Bifid sternum, Pectus carinatum, Hyperextensibility of the finger joints, Narrow iliac wing, Shor...	OMIM:303600
Simpson-Golabi-Behmel Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Postaxial hand polydactyly, ...	ORPHA:373
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl...	OMIM:608328
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Clinodactyly of the 5th finger, Tapered finger, Tapered toe	ORPHA:544488
Myhre Syndrome	Short finger, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndactyly, Short long ...	OMIM:139210
Kagami-Ogata Syndrome	Bell-shaped thorax, Limitation of joint mobility, Coat hanger sign of ribs, Thoracic hypoplasia, ...	ORPHA:254519
Aicardi Syndrome	Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bifid ribs, Hip dysplasia, Small hand	ORPHA:50
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Stiff elbow, Hypoplastic pubic bone, Wormian bones, Tibial bowing, ...	ORPHA:798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cervical ribs, Hyperextensible hand joints, Emphysema, Slender long bone, Metopic synostosis, Hyp...	ORPHA:500150
Microphthalmia, Syndromic 3	Missing ribs, Supernumerary ribs, Rib fusion, Hypogonadotropic hypogonadism, Vertebral fusion	OMIM:206900
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Zttk Syndrome	Cervical ribs, Craniosynostosis, Unilateral lung agenesis, Flexion contracture, Rib fusion, Intra...	OMIM:617140
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Thin bony cortex, Broad femoral neck, Short palm, Metaphyseal...	OMIM:619727
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Fused cervical vertebrae, Thin ribs, Coronal craniosynostosis, Arachnodactyly, Pu...	ORPHA:83617
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Genu valgum, Broad long bone diaphyses, Broad metacarpals, Hip dysplasia...	OMIM:301066
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Asymmetry of the thorax, Abnormal finger morphology, Calvarial h...	ORPHA:744
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Abnormal sternum morphology,...	OMIM:192350
Nocardiosis	Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Osteomyelitis	ORPHA:31204
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation...	OMIM:218600
Fabry Disease	Reduced bone mineral density, Arthritis, Abnormal femur morphology, Emphysema	ORPHA:324
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Flexio...	ORPHA:2908
Fraser Syndrome	Abnormal lung lobation, Finger syndactyly, Abnormal rib morphology, Death in infancy, Pulmonary h...	ORPHA:2052
Monosomy 9P	Proximal placement of thumb, Limitation of joint mobility, Postaxial hand polydactyly, Abnormal r...	ORPHA:261112
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormality of the pulmonary artery, Emphysema	ORPHA:363618
Sarcoidosis	Pneumothorax, Emphysema, Chylothorax, Bone cyst, Pleural effusion, Abnormal lung morphology, Join...	ORPHA:797
Alagille Syndrome 1	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal rib morphology, Hy...	OMIM:118450
Mucopolysaccharidosis Type 2, Severe Form	Diaphyseal undertubulation, Arthritis, Limitation of joint mobility, Camptodactyly of finger, Fle...	ORPHA:217085
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Intrauterine growth retardation, Polydactyly af...	ORPHA:672
Mucopolysaccharidosis Type 2, Attenuated Form	Diaphyseal undertubulation, Arthritis, Limitation of joint mobility, Camptodactyly of finger, Fle...	ORPHA:217093
Wiedemann-Rautenstrauch Syndrome	Narrow chest, Long toe, Slender long bone, Delayed closure of the anterior fontanelle, Thin ribs,...	OMIM:264090
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Abnormality of bone miner...	ORPHA:138
Wolf-Hirschhorn Syndrome	Abnormal sternal ossification, Short hallux, Split hand, Intrauterine growth retardation, Rib fus...	OMIM:194190
Viss Syndrome	Pneumothorax, Rocker bottom foot, Pulmonary artery aneurysm, Genu valgum, Emphysema, Generalized ...	OMIM:619472
Cog1-Cdg	Osteopenia, Short long bone, Posterior rib gap, Flat acetabular roof, Rib fusion, Coxa valga	ORPHA:263508
1P36 Deletion Syndrome	Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Rib...	ORPHA:1606
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Fused cervical vertebrae, Short foot, Fusion of middle ear ossicles, Pseudoepi...	OMIM:157800
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal lung lobation, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Camptodacty...	OMIM:607872
Robinow Syndrome	Fused thoracic vertebrae, Missing ribs, Bifid distal phalanx of the thumb, Syndactyly, Brachydact...	ORPHA:97360
Charge Syndrome	Hypoplasia of the ulna, Pulmonary artery atresia, Absent tibia, Hand monodactyly, Abnormal rib mo...	OMIM:214800
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Osteopetrosis, Prominent floating ribs, Pectus excavatum	ORPHA:2785
Townes-Brocks Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Abnormal rib morphology, Broad t...	ORPHA:857
Sotos Syndrome	Ankle flexion contracture, Small cell lung carcinoma, Bilateral camptodactyly, 2-3 toe syndactyly...	ORPHA:821

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 Dppa4

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 Dppa4.

No publications found that use IMPC mice or data for Dppa4.

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
Dppa4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dppa4^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Dppa4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dppa4^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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