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

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, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Pectus carinatum, Abnormal rib morphology ORPHA:3268
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Ventricular ... ORPHA:1354
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodacty... ORPHA:2635
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Joint stiffness, Undulate ribs, Missing ribs, Anterio... ORPHA:1801
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,... OMIM:122860
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal cortical bone morphology, Joint hypermob... ORPHA:2097
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased... OMIM:259440
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Ventricular septal defect, Decreased skull ossificati... ORPHA:93267
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Lateral clavicle ... OMIM:615633
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Joint hypermobility, Ventricular septal defect, Decreased calvarial ossif... ORPHA:2772
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Short ... ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Gait disturbance, Ost... ORPHA:93351
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Joint hypermobility, ... ORPHA:1488
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Bulging of the c... OMIM:600081
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Abnormal rib morphology, Craniosynostosis, Recurrent ... ORPHA:436
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large for gestational age, Vent... ORPHA:254534
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple rib fractures, Short t... ORPHA:93299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Thoracic hypoplasia, Hypertrophic cardiomyopathy, Decreased skull ossification, Ventr... OMIM:616897
Holt-Oram Syndrome
Hypoplastic left heart, Abnormal clavicle morphology, Atrioventricular canal defect, Joint stiffn... ORPHA:392
Osteogenesis Imperfecta, Type Ii
Thin ribs, Small for gestational age, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fract... OMIM:166210
Axial Spondylometaphyseal Dysplasia
Osteopenia, Narrow chest, Thoracic hypoplasia, Flaring of lower rib cage, Short ribs, Deformed ri... ORPHA:168549
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Mucopolysaccharidosis Type 4
Pectus carinatum, Abnormal rib morphology, Abnormal dental enamel morphology, Abnormal heart valv... ORPHA:582
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Bulging of the c... OMIM:241530
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Supernumerary ve... OMIM:609813
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Thoracolaryngopelvic Dysplasia
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions OMIM:187760
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Sprenge... ORPHA:2345
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
Melnick-Needles Syndrome
Craniofacial hyperostosis, Narrow chest, Short thorax, Abnormal rib morphology, Abnormal cortical... ORPHA:2484
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased calvarial ossification, Decreased body weight, Craniosynostosis, Arthrogrypo... OMIM:618265
Renpenning Syndrome
Joint stiffness, Cachexia, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum ORPHA:3242
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Broad ribs, Flaring of rib ... OMIM:612852
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Bell-shaped thorax, Inguinal hernia, Horizontal ribs, Lethargy, Atrial septal ... OMIM:614857
Diastrophic Dysplasia
Abnormal clavicle morphology, Camptodactyly of finger, Joint stiffness, Joint hypermobility, Abno... ORPHA:628
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures, Abnormal ri... ORPHA:1486
Metatropic Dysplasia
Narrow chest, Abnormal enchondral ossification, Short ribs, Cupped ribs, Flaring of rib cage, Cla... OMIM:156530
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Abnormal heart morphology, Obesity, Congenital diaphragmatic hernia, Abnormal ... ORPHA:261197
White Forelock With Malformations
Sprengel anomaly, Atrial septal defect, Abnormal rib morphology, Joint hypermobility ORPHA:2475
Nestor-Guillermo Progeria Syndrome
Thin ribs, Failure to thrive, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limite... OMIM:614008
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Narrow chest, Small for gestational age, Joint hypermobility, Decreased calvarial oss... OMIM:616229
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal cardiac septum morphology, Abnormal rib morphology ORPHA:93941
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Bell-shaped tho... OMIM:200600
Poland Syndrome
Rib fusion, Sprengel anomaly, Dextrocardia, Short ribs OMIM:173800
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rachitic rosary, Rickets, Failure to thrive, Cardiomyopathy, Ost... ORPHA:289157
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture, Situs inversus totalis, Decreased body weight OMIM:614833
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Lipoatrophy ORPHA:64755
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue, Joint hype... ORPHA:2463
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Cardiomegaly, Asymmetric septal hypertrophy, Thickened ribs, Dense calvaria OMIM:252920
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Joint stiffness, Inguinal hernia, Asymmetric septal hypertrophy, Thickened ribs... OMIM:252900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus, Abnormal rib morphology ORPHA:2234
Osteogenesis Imperfecta, Type X
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Narrow chest, Thoracic hypoplasia, Broad ribs, ... OMIM:613848
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Prune Belly Syndrome
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Abnormal... ORPHA:2970
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Posterior rib fusion, Abnormal rib morphology, Short thorax ORPHA:1797
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Joint hypermobility, Thin bony cortex, Generalized osteoporosis, Rec... OMIM:617952
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Horizontal ribs, Ventricular septal defect, Short ribs, Omphal... OMIM:617895
Autosomal Recessive Spondylocostal Dysostosis
Abnormal rib morphology, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital d... ORPHA:2311
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity, Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Abnormal heart valve morphology, Grayish enamel, Inguinal hernia, Joint hypermo... OMIM:253000
Femoral-Facial Syndrome
Inguinal hernia, Rib fusion, Radioulnar synostosis, Sprengel anomaly, Abnormal rib morphology ORPHA:1988
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormal rib morphology ORPHA:2643
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Decreased skull ossification, Calvarial osteosclerosis, Cortical thickening of long bo... ORPHA:93324
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvar... OMIM:259420
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
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
Rickets, Abnormal clavicle morphology, Abnormal rib morphology, Osteomalacia, Difficulty walking,... ORPHA:249
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Congenital contracture, Small for gestational age OMIM:615368
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Thi... OMIM:616294
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Camptodactyly of finger, Broad ribs, Bell-shaped thorax, Shor... ORPHA:2021
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology,... ORPHA:1120
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Hypoplastic heart, Akinesia, Increased susceptibility to fractures, Vertebral fusion, ... OMIM:253290
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Bell-shaped thorax, Situs inversus totalis, Missing ribs, Rib fusion, Dextrocard... OMIM:613686
Osteogenesis Imperfecta, Type Xv
Thin ribs, Recurrent fractures, Bowing of limbs due to multiple fractures, Joint hypermobility OMIM:615220
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Synostosis of carpal bones, Abnormal rib morphology, Camptodactyly of finger ORPHA:1836
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Thoracic hypoplasia, Short ribs OMIM:614524
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Barrel-shaped chest, Decreased skull... OMIM:215140
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Failure to thrive, Abnormal rib morphology, Carpal syno... ORPHA:90652
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasia, Posterior ri... OMIM:228520
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hernia, Asymmetric septal hypertrophy, Thickened ribs, Dense calvaria OMIM:252930
Mucopolysaccharidosis Type 6
Failure to thrive, Abnormal heart valve morphology, Broad ribs, Joint stiffness, Hernia ORPHA:583
Osteogenesis Imperfecta, Type Viii
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Inguinal hernia, Barrel-shaped chest, Decreased... OMIM:610915
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Joint stiffness, Elbow ankylosis, Abnormal rib morphology,... ORPHA:83
Kenny-Caffey Syndrome, Type 1
Thin ribs, Decreased skull ossification, Calvarial osteosclerosis, Long clavicles, Thin clavicles OMIM:244460
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Atrial septal def... ORPHA:2519
Frontometaphyseal Dysplasia 1
Cor pulmonale, Ankle flexion contracture, Interphalangeal joint contracture of finger, Partial fu... OMIM:305620
Dysosteosclerosis
Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull base, Increased ... OMIM:224300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnormal rib morphology ORPHA:3068
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Inguinal hernia, Ventricular septal defect, Atrial septal defect, ... OMIM:608149
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Umbilical hernia, Undulate ribs, Inguinal her... OMIM:618188
Dyggve-Melchior-Clausen Disease
Pectus carinatum, Failure to thrive, Difficulty walking, Inability to walk, Broad ribs, Limited e... ORPHA:239
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Joint stiffness, Grayish enamel, Inguinal hernia, Joint hypermobility, Pro... OMIM:253010
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Omphalocele, Abnormal rib morphology ORPHA:3035
Trisomy 13
Narrow chest, Ventricular septal defect, Hernia, Atrial septal defect, Abnormal rib morphology ORPHA:3378
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Osteopenia, Joint contracture of the hand, Pectus carinatum, Umbilical hernia, Inguina... OMIM:182212
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Joint hypermobility ORPHA:2759
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, 11 pairs of ribs, Decreased skull ossification OMIM:300863
Cantú Syndrome
Narrow chest, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Bro... ORPHA:1517
Osteogenesis Imperfecta
Thin ribs, Mitral valve prolapse, Decreased skull ossification, Loss of ambulation, Ataxia, Osteo... ORPHA:666
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Cleidocranial Dysplasia
Hypoplastic scapulae, Narrow chest, Abnormal dental enamel morphology, Decreased skull ossificati... ORPHA:1452
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hernia of the abdominal wall, Pectus carinatum, Abnormal rib morphology ORPHA:3082
X-Linked Hypophosphatemia
Cellulitis, Rachitic rosary, Limitation of joint mobility, Rickets, Multiple rib fractures, Gener... ORPHA:89936
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Abnormal thorax morphology, Hyperostosis, Generalized bone demineralizat... ORPHA:73230
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Failure to thrive, Cardiomyopathy, Short thorax, Abnormal rib mor... ORPHA:175
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Hypoplastic heart, Increased susceptibility to fractures, Vertebral fusion, Flexion co... OMIM:312150
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Osteopenia, Failure to thrive in infancy, Thoracic scoliosis, Rib fusion, Left... OMIM:611209
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Obesity, Delayed ossification of carpal bones, Joint hypermobility OMIM:618395
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Ventricular septal defect, Radioulnar synostosis, Abnor... ORPHA:2876
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Increased connective tissue, Multiple prenatal fractures, ... ORPHA:171430
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Abnormal rib morphology, Umbilical herni... ORPHA:581
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... ORPHA:2911
Trisomy 1Q
Abnormal rib morphology, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular se... ORPHA:261344
Schwartz-Jampel Syndrome
Pectus carinatum, Shoulder flexion contracture, Umbilical hernia, Joint stiffness, Inguinal herni... ORPHA:800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Umbilical hernia, Inguinal hernia, Joint hypermobility, Wrist flexion contra... ORPHA:254528
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Failure to thrive, Abnormal sternum morphology, Umbilical hernia, C... ORPHA:2990
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion, Vertebral fusion, Block vertebrae OMIM:277300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex ORPHA:85184
Three M Syndrome 2
Thin ribs, Pectus carinatum, Scapular winging, Short thorax, Small for gestational age OMIM:612921
Gracile Bone Dysplasia
Thin ribs, Failure to thrive, Decreased skull ossification OMIM:602361
Lethal Congenital Contracture Syndrome 10
Narrow chest, Stiff neck, Broad ribs, Ventricular septal defect, Cardiomegaly, Thoracic scoliosis... OMIM:617022
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Premature Aging Syndrome, Penttinen Type
Thin ribs, Keloids, Failure to thrive, Cervical ribs, Flexion contracture of finger, Joint contra... OMIM:601812
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Decreased cranial base ossi... OMIM:151210
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal vertebral se... OMIM:118100
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Prominent sternum, Anterior rib cupping, Ataxia, Flexion contracture, Thoracic kyphosis OMIM:300232
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Distal ulnar epiphyseal stippling, Delayed ossification of carpal bones OMIM:609616
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs OMIM:200610
3M Syndrome
Thin ribs, Abnormal dental enamel morphology, Horizontal ribs, Joint hypermobility, Scapular wing... ORPHA:2616
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Autosomal Dominant Centronuclear Myopathy
Difficulty walking, Large for gestational age, Thin ribs ORPHA:169189
Meier-Gorlin Syndrome 1
Thin ribs, Abnormal rib cage morphology, Joint contracture of the hand, Pectus carinatum, Flat gl... OMIM:224690
Eiken Syndrome
Delayed epiphyseal ossification, Broad ribs, Decreased body weight, Delayed tarsal ossification, ... OMIM:600002
Mucolipidosis Iii Alpha/Beta
Limitation of joint mobility, Cardiomyopathy, Broad ribs, Inguinal hernia, Short ribs, Craniosyno... OMIM:252600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Abnormal rib cage morphology, Carpal synostosis, Pathologic fracture, 11 pairs of ribs, Decreased... OMIM:271640
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Elbow flexion contracture, Hip cont... OMIM:620369
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Sclerosis of skull base, Horizo... ORPHA:3003
Pontine Tegmental Cap Dysplasia
Rib fusion, Failure to thrive, Dysmetria, Ataxia OMIM:614688
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Large for gestational age, Inguinal hernia, Joint hypermobility, Rib fusion, Gait d... OMIM:213980
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal dental enamel morphology, Radioulnar s... ORPHA:3258
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Decreased calvarial ossification, Short ribs, Short sternum, Atrial septal... OMIM:620076
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Joint contracture of the hand, Craniofacial osteosclerosis, Failure to th... OMIM:300373
Juberg-Hayward Syndrome
Radioulnar synostosis, Abnormal rib morphology ORPHA:2319
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Broad clavicles, Broad ribs, Thickened aortic valve cusp, Spatulate ribs, ... OMIM:619698
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Congenital diaphragmatic hernia, Omphalocele, Abnormal rib morphology ORPHA:1834
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Joint stiff... OMIM:230500
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Obesity, Short ribs, Joint hypermobility, Cupped ribs, Irregular chondrocosta... OMIM:250420
Alagille Syndrome
Atrial septal defect, Failure to thrive, Abnormal rib morphology, Ventricular septal defect ORPHA:52
Hurler Syndrome
Limitation of joint mobility, Abnormal clavicle morphology, Cardiomyopathy, Camptodactyly of fing... ORPHA:93473
Basal Cell Nevus Syndrome 1
Abnormal sternum morphology, Cardiac rhabdomyoma, Cardiac fibroma, Short ribs, Supernumerary ribs... OMIM:109400
Pseudo-Torch Syndrome 2
Thin ribs, Lethargy, Secundum atrial septal defect OMIM:617397
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Oculocerebrocutaneous Syndrome
Missing ribs, Congenital diaphragmatic hernia, Abnormal rib morphology ORPHA:1647
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Dysplastic patella, Inguinal hernia, Congenital diaphragmatic hernia, Knee flex... OMIM:265000
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Recurrent fractures, Abnormal rib morphology, Joint hypermobility ORPHA:2050
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal cortical bone morphology, Increased susceptibility to fractures, Miss... ORPHA:2769
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Inguinal hernia, Abnormal rib morphology, Pectus excavatum, Arthrogrypos... ORPHA:2215
Cerebrocostomandibular Syndrome
Posterior rib gap, Thoracic hypoplasia, Rib gap, Elbow flexion contracture, Anomalous rib inserti... OMIM:117650
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Aspergillosis
Osteomyelitis, Abnormal rib morphology ORPHA:1163
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Limited elbow extension, Joint hyper... OMIM:304150
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Horizontal ribs, Short ribs, Atrial septal defect, Capitate-hamat... OMIM:225500
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Epiphyseal stippling of toe phalanges, Epiphyseal stip... ORPHA:79345
Xylt1-Cdg
Short clavicles, Broad ribs, Truncal obesity, Joint hypermobility ORPHA:370930
Monosomy 9Q22.3
Umbilical hernia, Large for gestational age, Cardiac fibroma, Joint hypermobility, Abnormal rib m... ORPHA:77301
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Cach... ORPHA:3380
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Broad ribs OMIM:269300
Sclerosteosis 1
Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, Sclerotic scapulae, ... OMIM:269500
Alpha-Mannosidosis, Infantile Form
Osteopenia, Pectus carinatum, Cranial hyperostosis, Umbilical hernia, Joint stiffness, Joint hype... ORPHA:309282
Wolf-Hirschhorn Syndrome
Failure to thrive, Abnormal heart valve morphology, Abnormal thorax morphology, Congenital diaphr... ORPHA:280
Gorlin Syndrome
Cardiac fibroma, Rib fusion, Anterior rib cupping, Abnormal rib morphology, Bifid ribs, Vertebral... ORPHA:377
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Failure to thrive, Elbow flexion contracture, Broad ribs, Inguinal hernia, Knee ... OMIM:151050
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Camptodactyly of 2nd-5th fingers,... OMIM:600920
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Trache... OMIM:234100
Cerebrofaciothoracic Dysplasia
Narrow chest, Hernia, Rib fusion, Sprengel anomaly, Bifid ribs ORPHA:1394
Kagami-Ogata Syndrome
Limitation of joint mobility, Thoracic hypoplasia, Large for gestational age, Bell-shaped thorax,... ORPHA:254519
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Congenital diaph... ORPHA:958
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Ventricular septal defect, Atria... ORPHA:96334
Vacterl/Vater Association
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Omphalocele, Abnormal rib mo... ORPHA:887
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Inguinal hernia, Short ribs, Missing ribs, Rib fusion, Vertebral fusion OMIM:271520
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Camptodactyly of finger, Abnormal rib morphology, Art... ORPHA:96061
Myhre Syndrome
Craniofacial hyperostosis, Joint stiffness, Inguinal hernia, Abnormal cardiac septum morphology, ... ORPHA:2588
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Inguinal hernia, Patent foramen ovale, Ve... OMIM:269860
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Difficulty walking, Joint stiffness, Inguinal hernia, Thoracic scolios... OMIM:252940
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Osteopenia, Generalized lipodystrophy, Joint stiffness, Patent foramen ovale, Supernum... OMIM:619127
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Broad ribs, Sclerosis of skull base, Hypoplas... OMIM:269150
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Broad ribs, Joint stiffness, Ventricular septal defect, Thin bony cortex, ... OMIM:277600
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal pulmonary valve morphology, Osteopetrosis, Abnormal rib morphology, Cranio... ORPHA:667
Dextrocardia
Abnormal heart morphology, Situs inversus totalis, Dextrocardia, Abnormal rib morphology ORPHA:1666
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Pectus carinatum, Hypoplastic scapulae, Tracheomalaci... OMIM:114290
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Joint hypermobility OMIM:300219
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Tetralogy of Fallot, Horizontal ribs, Long thorax, Complete atrioventricular canal ... OMIM:617925
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Narrow chest, Limitation of joint mobility, Elbow flexion contracture, Tars... ORPHA:95699
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Broad ribs, Obesity, Joint stiffness, Ventri... OMIM:139210
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest OMIM:620601
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pectus carinatum, Narrow chest, Thoracic dysplasia, Horizontal ribs, Ventricular septal defect, S... OMIM:263520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Unicoronal synostosis, Bell-shaped thorax, Horizontal ribs, Short ribs, Omphalocele OMIM:616300
Stuve-Wiedemann Syndrome 1
Thin ribs, Elbow flexion contracture, Pathologic fracture, Knee flexion contracture, Thickened co... OMIM:601559
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Umbilical hernia, Elbow flexion contracture, Broad ribs, Joint stiffness, ... OMIM:608328
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Failure to thrive, Camptodactyly of finger, Joint hypermobility, Abnormal rib ... ORPHA:2554
Mucopolysaccharidosis, Type Vi
Pectus carinatum, Cardiomyopathy, Umbilical hernia, Broad ribs, Joint stiffness, Mitral stenosis,... OMIM:253200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Early ossification of capital femoral epiphyses, Horizontal rib... OMIM:208500
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Atrial ... OMIM:250220
Robinow Syndrome
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Missing ribs, Rib fusion,... ORPHA:97360
Aicardi Syndrome
Block vertebrae, Hiatus hernia, Missing ribs, Multiple lipomas, Supernumerary ribs, Rib fusion, B... ORPHA:50
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Large for gestational age, Inguinal hernia ORPHA:544488
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Multiple rib fractures OMIM:612301
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple r... OMIM:610682
Restrictive Dermopathy
Thin ribs, Osteopenia, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Mu... ORPHA:1662
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Synostosis of carpal bones, Umbilical hernia, Camptodactyly of finger, Tetralog... ORPHA:1507
Cardiospondylocarpofacial Syndrome
Failure to thrive, Carpal synostosis, Fusion of middle ear ossicles, Muscular ventricular septal ... OMIM:157800
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology... ORPHA:534
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thickened cortex of long bones, Abnormal rib morphology ORPHA:488434
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Thoracic hypoplasia, Broad ribs, Large for gestational ... OMIM:229850
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Short ribs, Cupped ribs, Pectus excavatum, Delayed ossification o... OMIM:607778
Cog1-Cdg
Posterior rib gap, Osteopenia, Failure to thrive, Rib fusion, Atrial septal dilatation ORPHA:263508
Kyphomelic Dysplasia
Limitation of joint mobility, Thoracic hypoplasia, Undulate ribs, Anterior rib cupping, Lateral c... OMIM:211350
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragma... ORPHA:373
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Cranioectodermal Dysplasia 2
Narrow chest, Inguinal hernia, Patent foramen ovale, Joint hypermobility, Horizontal ribs, Short ... OMIM:613610
Aicardi Syndrome
Block vertebrae, Hiatus hernia, Supernumerary ribs, Missing ribs, Rib fusion, Bifid ribs, Lipoma OMIM:304050
Pagod Syndrome
Hypoplastic left heart, Abnormal clavicle morphology, Situs inversus totalis, Congenital diaphrag... ORPHA:991
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Zttk Syndrome
Failure to thrive, Cervical ribs, Ventricular septal defect, Joint hypermobility, Rib fusion, Atr... OMIM:617140
1P36 Deletion Syndrome
Dilated cardiomyopathy, Failure to thrive, Camptodactyly of finger, Abnormal heart valve morpholo... ORPHA:1606
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Umbilical hernia, Failure to thrive in infancy, Abnormal heart morp... ORPHA:798
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Abnormal rib morphology ORPHA:1300
Mucopolysaccharidosis Type 2, Severe Form
Limitation of joint mobility, Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Abnormal... ORPHA:217085
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Osteopenia, Inguinal hernia, Joint hypermobility, Osteoporosis OMIM:225400
Fetal Akinesia Deformation Sequence 1
Thin ribs, Congenital contracture, Thoracic hypoplasia, Elbow contracture, Camptodactyly of finge... OMIM:208150
Mucopolysaccharidosis Type 2, Attenuated Form
Limitation of joint mobility, Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Abnormal... ORPHA:217093
Coccidioidomycosis
Atypical scarring of skin, Osteomyelitis, Broad ribs, Arthritis, Panniculitis, Osteolysis, Perica... ORPHA:228123
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Failure to thrive, Contracture of the distal interphalangeal... ORPHA:83617
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Thoracic hypoplasia, Short ribs, Horizontal ribs OMIM:613091
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Thoracic hypoplasia, Limited elbow extension, Horizontal ribs, Knee flexi... OMIM:618019
Microphthalmia, Syndromic 3
Ventricular septal defect, Missing ribs, Supernumerary ribs, Rib fusion, Vertebral fusion OMIM:206900
Vater/Vacterl Association
Failure to thrive, Abnormal sternum morphology, Tetralogy of Fallot, Ventricular septal defect, R... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Obesity, Limited elbow extension, Umbilical hernia OMIM:301066
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Narrow chest, Elbow flexion contracture, Congenital diaphragmati... OMIM:200980
Robinow Syndrome, Autosomal Recessive 1
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Joint hypermobility, Rib fusion, Li... OMIM:268310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Undulate ribs, Inguinal hernia, Knee flexion contracture... OMIM:609945
Hereditary Acrokeratotic Poikiloderma
Joint hypermobility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Osteopetrosis, Prominent floating ribs, Pectus excavatum, Recurrent fractures ORPHA:2785
Craniotubular Dysplasia, Ikegawa Type
Broad ribs, Sclerosis of skull base, Thin bony cortex, Ventricular septal defect OMIM:619727
Femoral-Facial Syndrome
Camptodactyly of finger, 11 pairs of ribs, Humeroradial synostosis, Inguinal hernia, Limited elbo... OMIM:134780
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia... ORPHA:818
Charge Syndrome
Abnormal rib morphology, Umbilical hernia, Tetralogy of Fallot, Abnormal aortic valve morphology,... ORPHA:138
Monosomy 9P
Hernia, Limitation of joint mobility, Congenital diaphragmatic hernia, Abnormal rib morphology ORPHA:261112
Alagille Syndrome 1
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Abnormal... OMIM:118450
Kbg Syndrome
Rib fusion, Vertebral fusion, Cervical ribs, Thoracic kyphosis OMIM:148050
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Narrow chest, Secundum atrial septal defect, Failure to thrive, Absence of subcutaneou... OMIM:264090
Wolf-Hirschhorn Syndrome
Failure to thrive, Rib segmentation abnormalities, Ventricular septal defect, Rib fusion, Radioul... OMIM:194190
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal r... ORPHA:2908
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Obesity, 11 pairs of ribs, ... OMIM:607872
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Joint stiffness OMIM:608940
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pectus carinatum, Broad clavicles, Elbow flexion contracture, Broad ribs, Humeroradial synostosis... OMIM:276820
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cervical ribs, Failure to thrive in infancy, Abnormal heart morphology, Joint hypermobility, Rib ... ORPHA:500150
Pallister-Hall Syndrome
Rib fusion, Ventricular septal defect OMIM:146510
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Atrioventricular canal defect, Horizontal ribs, Short ribs, Short clavicles OMIM:617088
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Carpal synostosis, Abnormal heart morpholo... OMIM:218600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs ORPHA:85167
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:214800
Ulbright-Hodes Syndrome
Thin ribs, Humeroradial synostosis, Short ribs, Short sternum, Abnormal rib morphology ORPHA:3404
Townes-Brocks Syndrome
Failure to thrive, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Atrial septal defect... ORPHA:857
Pallister-Hall Syndrome
Umbilical hernia, Atrioventricular canal defect, Large for gestational age, Inguinal hernia, Vent... ORPHA:672
Fraser Syndrome
Abnormal rib morphology, Omphalocele, Umbilical hernia ORPHA:2052

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
Brain - hypoplasia Arl4dtm1a(EUCOMM)Wtsi HOM Early adult
Thyroid - hypertrophy 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