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Gene: Arl4d MGI:1933155

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Gene Summary

Name:
ADP-ribosylation factor-like 4D
Synonyms:
Arl5,  1110036H21Rik,  Arfl4,  Arf4l

Order Alleles

IMPC Data Collections

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
decreased heart weight Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 4.52×10-05
decreased lean body mass Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 3.34×10-09
decreased bone mineral density Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 1.54×10-05
abnormal rib morphology Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 3.10×10-07
decreased locomotor activity Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 8.95×10-07
decreased body length Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 9.16×10-13
abnormal behavior Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 3.44×10-06
decreased bone mineral content Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 7.05×10-08
decreased total body fat amount Arl4dtm1a(EUCOMM)Wtsi HOM   Early adult 1.36×10-05
decreased body weight Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 3.28×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

22 Images

View images
Legacy Phenotype Associated Images
Arl4dtm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 66 images

Arl4dtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Arl4dtm1a(EUCOMM)Wtsi
decreased retrosplenial granular cortex size, HOM, Male, WTSI
Arl4dtm1a(EUCOMM)Wtsi
decreased retrosplenial granular cortex size, HOM, Male, WTSI

Human diseases caused by Arl4d 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 Arl4d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... ORPHA:2790
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormal rib morphology, Pectus carinatum ORPHA:3268
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... ORPHA:1354
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... ORPHA:2635
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Grant Syndrome
Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyperflexibility, Narrow chest,... ORPHA:2097
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... OMIM:615633
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Ventricular septal defect, Abnormal rib morphology, Na... ORPHA:93267
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... OMIM:259440
Mosaic Trisomy 14
Camptodactyly of finger, Failure to thrive, Abnormal rib morphology, Narrow chest ORPHA:1703
Achondrogenesis Type 1B
Femoral hernia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow c... ORPHA:93298
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Recurrent fractures, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin... ORPHA:93351
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... ORPHA:1488
Hypophosphatasia
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Nar... ORPHA:436
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:600081
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Ventricular septal defect, Fractured radius, Small for gestat... OMIM:616897
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Small for gestational age, Large for gestational age, Abn... ORPHA:254534
Achondrogenesis Type 1A
Multiple rib fractures, Femoral hernia, Recurrent fractures, Abnormal enchondral ossification, Sh... ORPHA:93299
Holt-Oram Syndrome
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,... ORPHA:392
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ... OMIM:166210
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped... ORPHA:168549
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:241530
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... OMIM:609813
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Abnormal dental enamel morphology, Grayish enamel, Short thorax,... ORPHA:582
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 ... ORPHA:2345
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
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Short ribs, Slender build, Horizontal ribs OMIM:187760
Melnick-Needles Syndrome
Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects... ORPHA:2484
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Decreased calvarial ossification, Decreased body weight, Arthrogrypo... OMIM:618265
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Small for gestational age, Recurrent fractures, Beaded ribs, ... OMIM:616229
Renpenning Syndrome
Cachexia, Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly ORPHA:3242
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... OMIM:612852
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Bell-shaped thorax, Atrial septal defect, Lethargy, Failure to thrive, Horizonta... OMIM:614857
Diastrophic Dysplasia
Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif... ORPHA:628
Metatropic Dysplasia
Abnormal enchondral ossification, Clavicular pseudarthrosis, Cupped ribs, Flexion contracture, Sh... OMIM:156530
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Abnormal rib morphology, Recurre... ORPHA:1486
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... ORPHA:289157
White Forelock With Malformations
Atrial septal defect, Joint hyperflexibility, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Obesity, Abnormal he... ORPHA:261197
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal rib morphology, Cachexia ORPHA:93941
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Abnormal hand bone ossification, Short th... OMIM:200600
Poland Syndrome
Sprengel anomaly, Short ribs, Rib fusion, Dextrocardia OMIM:173800
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Cardiomegaly, Asymmetric septal hypertrophy, Dense calvaria OMIM:252920
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Thickened ribs, Joint stiffness, Asymmetric septal hypertrophy, Umbilical hernia... OMIM:252900
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Left atrial enlargement, Limited elbow movement, Joint stiffness, Flexion contractur... OMIM:614008
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Thin ribs, Umbilical hernia, Generalized ost... OMIM:617952
Becker Nevus Syndrome
Lipoatrophy, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs ORPHA:64755
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormal rib morphology, Obesity ORPHA:2234
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Eunuchoid habitus, Cardiomegaly, Pectus excavatum, Thin ribs, Loss of truncal subcuta... ORPHA:2463
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... ORPHA:1145
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs ORPHA:1797
Prune Belly Syndrome
Failure to thrive, Ventricular septal defect, Pectus excavatum, Abnormal rib morphology, Atrial s... ORPHA:2970
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Thin bony cortex, Inguinal ... OMIM:613848
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmati... ORPHA:2311
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology, Abnormal dental enamel morphology, Obesity ORPHA:2180
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, N... OMIM:617895
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormal rib morphology ORPHA:2643
Femoral-Facial Syndrome
Inguinal hernia, Rib fusion, Abnormal rib morphology, Radioulnar synostosis, Sprengel anomaly ORPHA:1988
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Decreased skull ossificati... ORPHA:93324
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Thin ribs, Dec... OMIM:259420
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Thin ribs OMIM:614833
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Fused cervical vertebrae ORPHA:2522
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thin bony cortex, Antalgic gait, Osteomalacia, Fibrous dysplasia of... ORPHA:249
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped ... ORPHA:2021
Mucopolysaccharidosis, Type Iva
Joint laxity, Waddling gait, Inguinal hernia, Abnormal heart valve morphology, Grayish enamel, Os... OMIM:253000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal rib morphology, Anomalous pulmon... ORPHA:1120
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Akinesia, Flexion contracture, Increased susceptibility to fractures, Thin ribs... OMIM:253290
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs OMIM:615368
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormal rib morphology, Tarsal synostosis, Synostosis of carpal bones ORPHA:1836
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis, Corona... OMIM:616294
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs OMIM:615220
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal heart valve morphology, ... ORPHA:90652
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Joint stiffness, Hernia, Broad ribs, Failure to thrive ORPHA:583
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Patent foramen ovale, Th... OMIM:228520
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Narrow chest,... OMIM:215140
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple pre... OMIM:610915
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Asymmetric septal hypertrophy, Hernia, Dense calvaria OMIM:252930
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Thin ribs, Decreased skull ossification, Calvarial osteosclerosis OMIM:244460
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Atri... ORPHA:2519
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Fibrochondrogenesis 2
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia OMIM:614524
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Dextrocardia, Missing ribs, Situs inversus totalis, Pectus exc... OMIM:613686
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatum ORPHA:3068
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Lateral clavicle hook, Pectus excava... OMIM:182212
Frontometaphyseal Dysplasia 1
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... OMIM:305620
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Flexion contracture, Thi... OMIM:608149
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Recurrent fractures, Undulate ribs, Thin ribs, Subperiosteal bone fo... OMIM:618188
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Joint hyperflexibility, Abnormal rib morphology, Missing ribs ORPHA:2759
Trisomy 13
Ventricular septal defect, Abnormal rib morphology, Narrow chest, Hernia, Atrial septal defect ORPHA:3378
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Umbilical hernia, Narrow chest, Broa... ORPHA:1517
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Loss of ambulati... ORPHA:666
Mucopolysaccharidosis, Type Ivb
Joint laxity, Inguinal hernia, Ataxia, Joint stiffness, Grayish enamel, Osteoporosis, Prominent s... OMIM:253010
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hernia of the abdominal wall, Abnormal rib morphology, Pectus carinatum ORPHA:3082
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the co... ORPHA:89936
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal dental enamel morphol... ORPHA:1452
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Thin ribs, Hyperostosis, Narrow chest, Abnormal bone ossification, Ge... ORPHA:73230
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Thin ribs, Hypoplas... OMIM:312150
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Inability to walk, Short thorax,... ORPHA:239
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Delayed ossification of carpal bones, Obesity, Thin ribs OMIM:618395
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Rib fusion, Posterior rib gap, Camp... OMIM:611209
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Severe Congenital Nemaline Myopathy
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... ORPHA:171430
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Rad... ORPHA:2876
Poland Syndrome
Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, Congenital diaphragmatic hernia, A... ORPHA:2911
Trisomy 1Q
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:261344
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ... ORPHA:175
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Block vertebrae, Rib fusion OMIM:277300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex ORPHA:85184
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent ster... ORPHA:254528
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Three M Syndrome 2
Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum OMIM:612921
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiom... OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Limitation of joint mobility, Rib fus... ORPHA:2990
Gracile Bone Dysplasia
Failure to thrive, Decreased skull ossification, Thin ribs OMIM:602361
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... OMIM:118100
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Ataxia, Cardiomegaly, J... ORPHA:581
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ribs, Cervical ribs, Oste... OMIM:601812
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Ataxia, Anterior rib cupping, Flexion contracture, Thin ribs, Prominent sternum, Thoracic kyphosis OMIM:300232
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest, Thoracolumbar kyphosis,... OMIM:151210
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling OMIM:609616
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
3M Syndrome
Scapular winging, Abnormal dental enamel morphology, Short thorax, Thin ribs, Enlarged thorax, Jo... ORPHA:2616
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Meier-Gorlin Syndrome 1
Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Lateral ... OMIM:224690
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Difficulty walking, Thin ribs ORPHA:169189
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Joint laxity, Carpal synostosis, Ventricular septal defect, Bicuspid aortic val... OMIM:271640
Eiken Syndrome
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Delayed tarsal ossificatio... OMIM:600002
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... ORPHA:3003
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Sho... OMIM:620369
Pontine Tegmental Cap Dysplasia
Ataxia, Failure to thrive, Rib fusion, Dysmetria OMIM:614688
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Abnormal rib morphology, Radioulnar synostosis, Synostosis of ... ORPHA:3258
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Craniosynostosis, Lar... OMIM:213980
Bent Bone Dysplasia Syndrome 2
Osteopenia, Thin ribs, Decreased calvarial ossification, Short sternum, Short ribs, Atrial septal... OMIM:620076
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Failure to thrive, Ventricular septal defect, Tracheomalacia, Pectus excavatum, Thor... OMIM:300373
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Left ventricular hypertrophy, Broad... OMIM:619698
Juberg-Hayward Syndrome
Radioulnar synostosis, Abnormal rib morphology ORPHA:2319
Gm1-Gangliosidosis, Type I
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Joint stiffness, Dilated cardio... OMIM:230500
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs ORPHA:1834
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Alagille Syndrome
Atrial septal defect, Abnormal rib morphology, Failure to thrive, Ventricular septal defect ORPHA:52
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Hurler Syndrome
Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of finger, Limitatio... ORPHA:93473
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs ORPHA:1647
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Irregular ossification of hand bones, Cardiac fibroma, ... OMIM:109400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions, Short ... OMIM:250420
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Lethargy, Thin ribs OMIM:617397
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Long clavicles, Down-sloping shoulders, Congenital ... OMIM:265000
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Increased suscepti... ORPHA:2769
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Abnormal rib morphology, Arthrogrypos... ORPHA:2215
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Ventricular septal defect, Anomalous rib insertion t... OMIM:117650
Cole-Carpenter Syndrome
Joint hyperflexibility, Abnormal dental enamel morphology, Abnormal rib morphology, Recurrent fra... ORPHA:2050
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Short ribs, Narrow chest, Atrial septal defect, Common ... OMIM:225500
Occipital Horn Syndrome
Joint laxity, Broad clavicles, Pectus excavatum, Capitate-hamate fusion, Hiatus hernia, Osteoporo... OMIM:304150
Xylt1-Cdg
Joint laxity, Broad ribs, Truncal obesity, Short clavicles ORPHA:370930
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Craniometadiaphyseal Dysplasia
Osteopenia, Broad ribs, Sclerosis of skull base OMIM:269300
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Calcaneal epiphyseal stippling, Abnormal ossification involving the fe... ORPHA:79345
Monosomy 9Q22.3
Large for gestational age, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Joint hype... ORPHA:77301
Aspergillosis
Osteomyelitis, Abnormal rib morphology ORPHA:1163
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Ataxia, Craniosynostosis, Joint stiffness, Pectus excav... ORPHA:309282
Sclerosteosis 1
Sclerotic scapulae, Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, ... OMIM:269500
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle hook, Pectus e... OMIM:600920
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Broad clavicles, Humerora... OMIM:151050
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Large for gestational age, Limitation of joint mobility, Bell-shape... ORPHA:254519
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Abnormal heart valve morphology, Ataxia, Congenital diaphragmatic... ORPHA:280
Hallermann-Streiff Syndrome
Small for gestational age, Pectus excavatum, Thin ribs, Choreoathetosis, Abnormal rib cage morpho... OMIM:234100
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Congenital diaphragmatic hernia, Thin ribs, P... ORPHA:958
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short ribs, Craniosynostosis OMIM:252600
Cerebrofaciothoracic Dysplasia
Rib fusion, Narrow chest, Hernia, Bifid ribs, Sprengel anomaly ORPHA:1394
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Flexion contracture, Narrow chest, Atrial septal defect, Interphalange... ORPHA:96334
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Joint stiffness OMIM:608940
Vacterl/Vater Association
Omphalocele, Abnormal cardiac septum morphology, Abnormal rib morphology, Congenital diaphragmati... ORPHA:887
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Inguinal hernia, Joint stiffness, Achilles tendon contracture... OMIM:252940
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs OMIM:271520
Mosaic Trisomy 8
Camptodactyly of finger, Limitation of joint mobility, Abnormal rib morphology, Narrow chest, Art... ORPHA:96061
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Ventricular septal defect, Short thorax, Thor... OMIM:269860
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Mitral valve calcification, Joint stiffness, Pectus excavatum, Flexion contracture, O... OMIM:619127
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Hypoplasia of first ribs, Sclerosis of skull bas... OMIM:269150
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Abnormal pulmonary valve morphology, Craniosynostosis, Abnormal rib morpholo... ORPHA:667
Myhre Syndrome
Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffness, Abnormal rib morphol... ORPHA:2588
Weill-Marchesani Syndrome 1
Ventricular septal defect, Joint stiffness, Pulmonic stenosis, Broad ribs, Aortic valve stenosis,... OMIM:277600
Dextrocardia
Situs inversus totalis, Abnormal rib morphology, Dextrocardia, Abnormal heart morphology ORPHA:1666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Complete atrioventricular canal defect, Decreased calvarial ossification, ... OMIM:617925
Campomelic Dysplasia
11 pairs of ribs, Joint laxity, Thoracic scoliosis, Hypoplastic scapulae, Absent sternal ossifica... OMIM:114290
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Tarsal synostosis, Craniosynostosis, Flexion contracture, Abnormal rib morp... ORPHA:95699
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow ch... OMIM:263520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Unicoronal synostosis, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thin ribs... OMIM:601559
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Abnormal rib morphology, Joint hype... ORPHA:2554
Weill-Marchesani Syndrome 2
Ventricular septal defect, Joint stiffness, Elbow flexion contracture, Umbilical hernia, Pulmonic... OMIM:608328
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Ataxia, Small for gestational age, Joint stiffness, ... OMIM:139210
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Short... OMIM:208500
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Joint stiffness, Flexion contracture, Pectus carinatum, Cardiomyopathy, Prominen... OMIM:253200
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Myocarditis, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphy... OMIM:250220
Robinow Syndrome
Fused thoracic vertebrae, Ventricular septal defect, Small for gestational age, Missing ribs, Rib... ORPHA:97360
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Congenital diaphra... OMIM:157800
Aicardi Syndrome
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Multiple lipomas, Supernumerary ribs, B... ORPHA:50
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Recurrent fractures, Pectus excavatum, Multiple prenatal frac... OMIM:610682
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Inguinal hernia, Rib fusion, Large for gestational age ORPHA:544488
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of... ORPHA:1507
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal dental enamel morph... ORPHA:534
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal rib morphology, Thickened cortex of long bones ORPHA:488434
Fryns Syndrome
Omphalocele, Ventricular septal defect, Large for gestational age, Thin ribs, Aplasia of the left... OMIM:229850
Acrocapitofemoral Dysplasia
Pectus excavatum, Cupped ribs, Pectus carinatum, Delayed ossification of carpal bones, Short ribs... OMIM:607778
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Thoraci... OMIM:211350
Cog1-Cdg
Osteopenia, Rib fusion, Posterior rib gap, Atrial septal dilatation, Failure to thrive ORPHA:263508
Simpson-Golabi-Behmel Syndrome
Omphalocele, Vertebral fusion, Inguinal hernia, Ventricular septal defect, Camptodactyly of finge... ORPHA:373
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Aicardi Syndrome
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Supernumerary ribs, Bifid ribs, Lipoma OMIM:304050
Pagod Syndrome
Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Situs inversus totali... ORPHA:991
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Osteopetrosis OMIM:612301
Cranioectodermal Dysplasia 2
Joint laxity, Inguinal hernia, Craniosynostosis, Pectus excavatum, Narrow chest, Short ribs, Atri... OMIM:613610
Zttk Syndrome
Ventricular septal defect, Craniosynostosis, Flexion contracture, Rib fusion, Cervical ribs, Atri... OMIM:617140
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Inguinal hernia, Failure to thrive in infancy, Abnormal thorax morp... ORPHA:798
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Osteoporosis, Thin ribs OMIM:225400
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness ORPHA:1300
1P36 Deletion Syndrome
11 pairs of ribs, Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Jo... ORPHA:1606
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Thin ribs... OMIM:208150
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morpho... ORPHA:217085
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Long clavicles, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:83617
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Missing ribs, Rib fusion, Supernumerary ribs OMIM:206900
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morpho... ORPHA:217093
Femoral-Facial Syndrome
Inguinal hernia, Ventricular septal defect, Limited elbow movement, Missing ribs, Humeroradial sy... OMIM:134780
Coccidioidomycosis
Pericarditis, Osteomyelitis, Osteolysis, Atypical scarring of skin, Arthritis, Panniculitis, Broa... ORPHA:228123
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia OMIM:613091
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Knee flexion contracture, Joint hyperflexibility, Camptodactyly, Thoracolumbar k... OMIM:618019
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Congenital diaphragmatic hernia, Missing ribs, Elbow flexion contracture, T... OMIM:200980
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Pectus excavatum, Osteopetrosis, Failure to thrive, Prominent floating ribs ORPHA:2785
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Umbilical hernia, Limited elbow extension, Obesity OMIM:301066
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Craniosynostosis, Pectus excavatum, Undulate ribs, Knee flexion contracture, Tot... OMIM:609945
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Inguinal hernia, Missing ribs, Pectus excavatum, Rib fusion, Prox... OMIM:268310
Craniotubular Dysplasia, Ikegawa Type
Broad ribs, Sclerosis of skull base, Ventricular septal defect, Thin bony cortex OMIM:619727
Vater/Vacterl Association
Failure to thrive, Ventricular septal defect, Abnormal rib morphology, Abnormal sternum morpholog... OMIM:192350
Monosomy 9P
Hernia, Limitation of joint mobility, Abnormal rib morphology, Congenital diaphragmatic hernia ORPHA:261112
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Ab... ORPHA:818
Alagille Syndrome 1
Ventricular septal defect, Abnormal rib morphology, Tetralogy of Fallot, Atrial septal defect, Fa... OMIM:118450
Kbg Syndrome
Cervical ribs, Vertebral fusion, Rib fusion, Thoracic kyphosis OMIM:148050
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Small for gestational age, Secundum atrial sept... OMIM:264090
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Ventricular septal defect, Small for gestationa... OMIM:194190
Charge Syndrome
Abnormal rib morphology, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Ab... ORPHA:138
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Abnormal rib mor... ORPHA:2908
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect,... OMIM:607872
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Humeroradial sy... OMIM:276820
Pallister-Hall Syndrome
Rib fusion, Ventricular septal defect OMIM:146510
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Failure to thrive in infancy, Sagittal craniosynostosis, Rib fusion,... ORPHA:500150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short ribs, Narrow chest, Short clavicles, Atrioventricular canal defect, Horizontal ribs OMIM:617088
Baller-Gerold Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Rib fusion, Limited shoulder... OMIM:218600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs ORPHA:85167
Charge Syndrome
Omphalocele, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Secundum atrial... OMIM:214800
Ulbright-Hodes Syndrome
Humeroradial synostosis, Abnormal rib morphology, Thin ribs, Short sternum, Short ribs ORPHA:3404
Townes-Brocks Syndrome
Failure to thrive, Abnormal pulmonary valve morphology, Abnormal rib morphology, Abnormal cardiac... ORPHA:857
Pallister-Hall Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Rib fusion, Distal arthrog... 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.

Phenotype Allele Zygosity Sex Life Stage
Thyroid - hypertrophy Arl4dtm1a(EUCOMM)Wtsi HOM Early adult
Brain - hypoplasia Arl4dtm1a(EUCOMM)Wtsi HOM Early adult

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 Arl4d.

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

Title Journal IMPC Allele PubMed ID
The ADP-Ribosylation Factor 4d Restricts Regulatory T-Cell Induction via Control of IL-2 Availability. Cells (August 2022) Arl4dtm1a(EUCOMM)Wtsi PMC9454872
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arl4dtm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arl4dtm1a(EUCOMM)Wtsi PMC6459510
The PDL1-inducible GTPase Arl4d controls T effector function by limiting IL-2 production. Scientific reports (October 2018) Arl4dtm1a(EUCOMM)Wtsi PMC6208435

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
Arl4dtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arl4dtm47396(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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