Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Arl4dtm1a(EUCOMM)Wtsi HOM   Early adult 8.58×10-06
decreased body length Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 6.62×10-13
abnormal behavior Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 9.62×10-06
decreased locomotor activity Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 1.50×10-06
abnormal rib morphology Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 7.37×10-06
decreased lean body mass Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 3.41×10-08
decreased body weight Arl4dtm1a(EUCOMM)Wtsi HOM   Early adult 3.74×10-08
decreased bone mineral density Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 2.28×10-06
decreased bone mineral content Arl4dtm1a(EUCOMM)Wtsi HOM Early adult 3.03×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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

11 Images

Legacy Phenotype Associated Images

View all 66 images

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
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclerosis, Abnormal cortical bone... ORPHA:2790
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis ORPHA:3268
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Missing ribs, Short thorax, L... ORPHA:1801
Metatropic Dysplasia
Narrow chest, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Lon... ORPHA:2635
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofaci... OMIM:122860
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Decreased skull ossification, A... ORPHA:2097
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... OMIM:615633
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial ossificatio... OMIM:259440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Failure to thrive, ... OMIM:600081
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Femoral hernia, Short thorax, Umbilical hernia, Abnormal e... ORPHA:93298
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Abnormal rib morphology ORPHA:1703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnormal rib morpholo... ORPHA:93351
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Failure to thrive i... ORPHA:436
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Femoral hernia, Short thorax, Umbilica... ORPHA:93299
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Omphalocele, Decreased skull... ORPHA:93267
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Small for gestational age, Bell-shaped thorax, Absent ossificatio... OMIM:166210
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased body weight, Arthrogryposis multiplex congenita, Craniosynostosis OMIM:618265
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Abnormal rib morphology, Missing ribs, Short thorax, Block vertebrae, Vertebral fusion OMIM:613686
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, D... ORPHA:168549
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion, Contracture of the proximal interphalan... OMIM:609813
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Camptodactyly of finger, Abnormal ... ORPHA:1488
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Limited elbow extension, Hyperosto... OMIM:604922
Thoracolaryngopelvic Dysplasia
Slender build, Irregular chondrocostal junctions, Short ribs, Bell-shaped thorax, Horizontal ribs OMIM:187760
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Failure to thrive, ... OMIM:264700
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology ORPHA:1354
Congenital Disorder Of Glycosylation, Type Iig
Abnormal rib morphology, Osteopenia, Failure to thrive in infancy, Camptodactyly OMIM:611209
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... OMIM:616229
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Cachexia, Abnormal rib morphology ORPHA:3242
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Broad ribs, Flaring... OMIM:612852
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Short ribs, Multiple rib fractures, Osteopenia, Small for gestational age, T... OMIM:616897
Diastrophic Dysplasia
Joint stiffness, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of f... ORPHA:628
Metatropic Dysplasia
Narrow chest, Flexion contracture, Short ribs, Clavicular pseudarthrosis, Flaring of rib cage, Ar... OMIM:156530
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Recurrent fractures, Abnormal cortical bone morphology, Limitation of jo... ORPHA:1486
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, Osteomalacia, Rachiti... ORPHA:289157
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Grayish enamel, Abnormal rib morphology, Gait dis... ORPHA:582
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Barrel-shaped chest, Broad clavicles, Bell-shaped thor... OMIM:200600
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Osteolytic defects of the phalanges of the hand, Abnormal rib morp... ORPHA:2484
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Lipoatrophy, Pectus carinatum, Supernumerary ribs ORPHA:64755
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Short ribs, Elbow flexion contracture, Knee flexion contracture, Arthrogryposis ... ORPHA:1145
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Obesity, Eunuchoid habitus ORPHA:2234
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... ORPHA:254534
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Thin bony cortex, Joint laxity, Umbilical hernia, Joint hypermobi... OMIM:617952
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs ORPHA:1797
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Inguinal hernia, Bell-shaped thorax, Horizontal ribs, Lethargy OMIM:614857
Lethal Congenital Contracture Syndrome 5
Thin ribs, Congenital contracture, Flexion contracture, Small for gestational age OMIM:615368
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Obesity, Abnormal dental enamel morphology, Abnormal rib morphology ORPHA:2180
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Thin clavicles, Calvarial osteosclerosis, ... ORPHA:93324
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Inguinal hernia, Radioulnar synostosis, Abnormal rib morphology ORPHA:1988
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Enamel hypoplasia ORPHA:2643
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight, Flexion contracture OMIM:614833
White Forelock With Malformations
Sprengel anomaly, Joint hyperflexibility, Abnormal rib morphology ORPHA:2475
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Bell-shaped thorax, Abnormal rib morphology, H... ORPHA:2021
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Decreased calvarial ossification, Seve... OMIM:259420
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Pectus excavatum, Abnormal rib morphology ORPHA:2522
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology, Camptodactyly of finger, Synostosis of carpal bones, Tarsal synostosis ORPHA:1836
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down-sloping s... ORPHA:392
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Short ribs, Thin ribs, Decreased cranial base ossification OMIM:151210
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Bowing of limbs due to multiple fractures, Thin ribs, Joint hypermobility OMIM:615220
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Cole-Carpenter Syndrome 2
Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynostosis, Osteopenia, Lam... OMIM:616294
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Osteomalacia, Antalgic gait, Thin b... ORPHA:249
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Abnormal r... ORPHA:2311
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Inguinal hernia, Dense calvaria, Umbilical hernia OMIM:252900
Dysosteosclerosis
Narrow chest, Sclerosis of skull base, Short sternum, Short ribs, Osteopenia, Clavicular sclerosi... OMIM:224300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook OMIM:617895
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Failure to thrive, Lipoatrophy, Flexion contracture, Thin ribs, Osteoporosis, Li... OMIM:614008
Dyggve-Melchior-Clausen Disease
Failure to thrive, Inability to walk, Horizontal inferior border of scapula, Limited elbow extens... ORPHA:239
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Osteopenia, Loss of t... ORPHA:2463
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Inguinal hernia, Osteopenia, Decreased... OMIM:610915
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia ORPHA:93941
Osteogenesis Imperfecta, Type X
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Inguinal hernia, Os... OMIM:613848
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs OMIM:200610
Antley-Bixler Syndrome
Narrow chest, Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Camptodact... ORPHA:83
Greenberg Dysplasia
Anterior rib punctate calcifications, Barrel-shaped chest, 11 pairs of ribs, Fractured rib, Thora... OMIM:215140
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Limitation of joint mobility, Craniofacial hyperostosis, Pectus carinatum ORPHA:3068
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Joint hyperflexibility, Missing ribs ORPHA:2759
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Arthritis, Vertebral... ORPHA:89936
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Omphalocele, Abnormally ossified vertebrae ORPHA:3035
Mucopolysaccharidosis, Type Iva
Prominent sternum, Inguinal hernia, Osteoporosis, Pectus carinatum, Grayish enamel, Flaring of ri... OMIM:253000
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Fibrochondrogenesis 1
Joint contracture of the hand, Thin ribs, Short ribs, Long clavicles, Thin clavicles, Anterior ri... OMIM:228520
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Hernia of the abdominal wall, Pectus carinatum ORPHA:3082
Prune Belly Syndrome
Abnormal rib morphology, Failure to thrive, Pectus excavatum ORPHA:2970
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex ORPHA:85184
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Rib fusion, Vertebral fusion OMIM:277300
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Failure to thrive, Congenital diaphragmatic hernia, Craniosynostosis, Choreoathetosis... ORPHA:261197
Severe Congenital Nemaline Myopathy
Thin ribs, Flexion contracture, Increased connective tissue, Abnormal thorax morphology, Arthrogr... ORPHA:171430
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Osteoporosis, Abnorma... ORPHA:1452
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal bone ossification, Thin ribs, Abnormal thorax morphology, Generalized bone... ORPHA:73230
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Thin ribs, Flexion contracture, Increased susceptibility to fractures, Vertebral fusion OMIM:253290
Gracile Bone Dysplasia
Failure to thrive, Decreased skull ossification, Thin ribs OMIM:602361
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Inguinal... ORPHA:254528
Mucopolysaccharidosis Type 6
Failure to thrive, Joint stiffness, Hernia, Broad ribs ORPHA:583
Three M Syndrome 2
Thin ribs, Small for gestational age, Pectus carinatum, Short thorax, Scapular winging OMIM:612921
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Minimal subcutaneous fat, Joint contracture of the hand, Thin ribs, Craniosynos... OMIM:182212
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Failure to thrive, Increased bone mineral density, Abnormal vert... ORPHA:90652
Acrocapitofemoral Dysplasia
Narrow chest, Pectus excavatum, Delayed ossification of carpal bones, Short ribs, Pectus carinatu... OMIM:607778
Schwartz-Jampel Syndrome
Sprengel anomaly, Joint stiffness, Hip contracture, Pectus excavatum, Decreased body weight, Incr... ORPHA:800
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Hernia, Dense calvaria OMIM:252930
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Osteogenesis Imperfecta
Ataxia, Pectus excavatum, Osteopenia, Pectus carinatum, Umbilical hernia, Abnormal cortical bone ... ORPHA:666
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal vertebral se... OMIM:118100
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Craniosynostosis, Increased density of long b... OMIM:305620
Mucopolysaccharidosis, Type Ivb
Prominent sternum, Inguinal hernia, Osteoporosis, Grayish enamel, Flaring of rib cage, Joint laxity OMIM:253010
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Dense calvaria OMIM:252920
Trisomy 13
Narrow chest, Hernia, Abnormal rib morphology ORPHA:3378
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling OMIM:609616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity, Joint laxity, Thin ribs OMIM:618395
Pyknoachondrogenesis
Sclerosis of skull base, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Horizontal ribs,... ORPHA:3003
Meier-Gorlin Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Abnormal rib cage morpholo... OMIM:224690
Holzgreve Syndrome
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae ORPHA:2167
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
3M Syndrome
Enlarged thorax, Thin ribs, Horizontal ribs, Short thorax, Scapular winging, Joint hyperflexibili... ORPHA:2616
Eiken Syndrome
Delayed epiphyseal ossification, Decreased body weight, Delayed ossification of carpal bones, Del... OMIM:600002
Cartilage-Hair Hypoplasia
Narrow chest, Failure to thrive, Abnormal bone ossification, Abnormally ossified vertebrae, Pectu... ORPHA:175
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Abnormal rib morphology, Short thorax, ... ORPHA:261344
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Thin ribs, Flexion contracture, Anterior rib cupping, Thoracic kyphosis OMIM:300232
Microcephaly-Micromelia Syndrome
Narrow chest, Humeroradial synostosis, Abnormal rib morphology, Craniosynostosis OMIM:251230
Occipital Horn Syndrome
Narrow chest, Short clavicles, Pectus excavatum, Hiatus hernia, Osteoporosis, Limited elbow exten... OMIM:304150
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Difficulty walking, Thin ribs ORPHA:169189
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Poland Syndrome
Sprengel anomaly, Abnormal sternum morphology, Asymmetry of the thorax, Congenital diaphragmatic ... ORPHA:2911
Juberg-Hayward Syndrome
Abnormal rib morphology, Radioulnar synostosis ORPHA:2319
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility of the fi... OMIM:151050
Pontine Tegmental Cap Dysplasia
Rib fusion, Ataxia, Failure to thrive, Dysmetria OMIM:614688
Kagami-Ogata Syndrome
Thin ribs, Long clavicles, Flexion contracture, Inguinal hernia, Bell-shaped thorax, Omphalocele OMIM:608149
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Autosomal Recessive Multiple Pterygium Syndrome
Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum morphology, Inguinal hernia, Ca... ORPHA:2990
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cenani-Lenz Syndrome
Synostosis of carpal bones, Synostosis of joints, Abnormal rib morphology, Radioulnar synostosis,... ORPHA:3258
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Vertebral fusion, Increased susceptibility to fractures, Flexion contracture OMIM:312150
Phaver Syndrome
Abnormal rib morphology, Joint stiffness, Camptodactyly of finger, Radioulnar synostosis ORPHA:2876
Short Rib-Polydactyly Syndrome
Narrow chest, Abnormal bone ossification, Reduced bone mineral density, Short ribs, Absent or min... ORPHA:1505
Axial Mesodermal Dysplasia Spectrum
Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs, Omphalocele ORPHA:1834
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Broad ribs, Omphalocele, Stiff neck OMIM:617022
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs ORPHA:1647
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Rib fusion, Congenital diaphragmatic hernia, Flexion contracture, Lo... OMIM:265000
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Abnormal rib morphology, Missing ribs, Increased suscepti... ORPHA:2769
Xylt1-Cdg
Short clavicles, Joint laxity, Broad ribs, Truncal obesity ORPHA:370930
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Irregular chondrocostal junctions, Short ribs, Flat glenoid fossa, Joint laxity, Cupped ribs, Obe... OMIM:250420
Mucopolysaccharidosis Type 3
Joint stiffness, Ataxia, Abnormal clavicle morphology, Loss of ambulation, Flexion contracture, R... ORPHA:581
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Broad ribs OMIM:269300
Sclerosteosis 1
Cortically dense long tubular bones, Broad clavicles, Facial palsy secondary to cranial hyperosto... OMIM:269500
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Short clavicles, Broad ribs, Short ribs OMIM:610319
Cole-Carpenter Syndrome
Abnormal rib morphology, Recurrent fractures, Joint hyperflexibility, Abnormal dental enamel morp... ORPHA:2050
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Inguinal hernia, Camptodactyly of finger, Abnormal rib morphology, Arthrogrypos... ORPHA:2215
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Narrow chest, Pectus excavatum, Bifid ribs, Inguinal hernia, Cranio... OMIM:213980
Cantú Syndrome
Narrow chest, Broad ribs, Osteoporosis, Umbilical hernia ORPHA:1517
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Sclerosis of skull base, Pectus excavatum, Joint contracture of the hand, Trac... OMIM:300373
Van Den Ende-Gupta Syndrome
Short clavicles, Pectus excavatum, Joint contracture of the hand, Thin ribs, Craniosynostosis, Sh... OMIM:600920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Advanced ossification of carpal bones, Decreased body weight, Abnormal rib cag... OMIM:271640
Mucolipidosis Iii Alpha/Beta
Short ribs, Broad ribs, Craniosynostosis OMIM:252600
Kagami-Ogata Syndrome
Limitation of joint mobility, Inguinal hernia, Coat hanger sign of ribs, Bell-shaped thorax, Larg... ORPHA:254519
Microcephaly, Short Stature, And Limb Abnormalities
Abnormal rib morphology, Radioulnar synostosis OMIM:617604
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormal rib morphology, Inguinal hernia, Umbilical hernia, Unilateral chest hypoplasia OMIM:308205
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Joint stiffness, Ataxia, Cortical thickening of long bone diaphyses, Pectus excav... ORPHA:309282
Aspergillosis
Abnormal rib morphology, Osteomyelitis ORPHA:1163
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Congenital diaphragmatic hernia ORPHA:1120
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Inguinal hernia, Missing ribs, Block vertebrae, Vertebral fusion OMIM:271520
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Hernia ORPHA:1394
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Bell-shaped thorax, Horizontal ribs, Omphalocele, Unicoronal synostosis OMIM:616300
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Thin ribs, Pectu... ORPHA:958
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Abnormal rib morphology, Arthrogryposis multiplex congenit... ORPHA:96061
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Small for gestational ... OMIM:234100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Joint stiffness OMIM:608940
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Supernumerary ribs, Abnormal sternum morphology, Short ribs, Down-s... OMIM:109400
Alagille Syndrome
Abnormal rib morphology, Failure to thrive ORPHA:52
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Joint stiffness, Thoracic scoliosis, Inguinal hernia, Difficulty walking, Elbow f... OMIM:252940
Trisomy 18
Congenital diaphragmatic hernia, Cachexia, Camptodactyly of finger, Abnormal rib morphology, Hern... ORPHA:3380
Monosomy 9Q22.3
Pectus excavatum, Abnormal rib morphology, Large for gestational age, Umbilical hernia, Joint hyp... ORPHA:77301
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Joint hypermobility OMIM:300219
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm... ORPHA:79345
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Large fo... ORPHA:96334
Pseudo-Torch Syndrome 2
Lethargy, Thin ribs OMIM:617397
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Abnormal rib morphology, Hernia, Limitatio... ORPHA:93473
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Short sternum, Long clavicles, Increased density of l... OMIM:269150
Gm1-Gangliosidosis, Type I
Thickened ribs, Joint stiffness, Inguinal hernia OMIM:230500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow chest, Elbow ankylosis, Flexion contracture, Craniosynostosis, Limited elbow extension, Ca... ORPHA:95699
Ellis-Van Creveld Syndrome
Narrow chest, Short ribs, Pectus carinatum, Horizontal ribs, Capitate-hamate fusion OMIM:225500
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Delayed epiphyseal ossification, Failure to thrive, Thoracic ... OMIM:114290
Ear-Patella-Short Stature Syndrome
Failure to thrive, Craniosynostosis, Camptodactyly of finger, Aplastic clavicle, Abnormal rib mor... ORPHA:2554
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Early ossification of capital femoral epiphyses,... OMIM:208500
Stuve-Wiedemann Syndrome 1
Thin ribs, Osteoporosis, Pathologic fracture, Camptodactyly, Flexion contracture of toe, Elbow fl... OMIM:601559
Wolf-Hirschhorn Syndrome
Rib fusion, Ataxia, Failure to thrive, Congenital diaphragmatic hernia, Osteoporosis, Abnormal th... ORPHA:280
Mucopolysaccharidosis, Type X
Spatulate ribs, Broad ribs, Broad clavicles OMIM:619698
Vacterl/Vater Association
Abnormal rib morphology, Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Rib gap, Anomalous rib insertion to vertebrae, 11 pairs of ribs, ... OMIM:117650
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Recurrent fractures, Reduced bone mineral density, Osteopetrosis, Craniosynostosis,... ORPHA:667
Myhre Syndrome
Joint stiffness, Inguinal hernia, Abnormal rib morphology, Femoral hernia, Craniofacial hyperostosis ORPHA:2588
Craniofaciofrontodigital Syndrome
Pectus excavatum, Broad ribs, Joint hypermobility OMIM:114620
Aicardi Syndrome
Bifid ribs, Rib fusion, Hiatus hernia, Multiple lipomas, Missing ribs, Block vertebrae, Supernume... ORPHA:50
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology, Osteopenia, Thickened cortex of long bones ORPHA:488434
Short-Rib Thoracic Dysplasia 12
Narrow chest, Inguinal hernia, Short ribs, Hypoplastic scapulae, Horizontal ribs, Short thorax, O... OMIM:269860
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Pectus excavatum, Flexion contracture, Thin ribs, Osteopenia, Generalized lipody... OMIM:619127
Osteogenesis Imperfecta, Type Vii
Narrow chest, Recurrent fractures, Pectus excavatum, Multiple rib fractures, Osteopenia, Decrease... OMIM:610682
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Multiple rib fractures OMIM:612301
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short ribs, Decreased calvarial ossification, Long thorax, Horizontal ribs, Lateral... OMIM:617925
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Rib fusion, Inguinal hernia ORPHA:544488
Aicardi Syndrome
Bifid ribs, Rib fusion, Lipoma, Hiatus hernia, Missing ribs, Block vertebrae, Supernumerary ribs OMIM:304050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Inguinal hernia, Thin ribs, Osteopenia, Osteoporosis, Joint laxity OMIM:225400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Failure to thrive, Inguinal hernia, Osteomalacia, Arthritis... ORPHA:534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Pectus carinatum, Horizontal ribs, Thoracic dysp... OMIM:263520
Kniest-Like Dysplasia, Lethal
Narrow chest, Broad ribs, Short ribs OMIM:245190
Kyphomelic Dysplasia
Limitation of joint mobility, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia, Lateral c... OMIM:211350
Mucopolysaccharidosis, Type Vi
Joint stiffness, Prominent sternum, Flexion contracture, Inguinal hernia, Pectus carinatum, Broad... OMIM:253200
Weill-Marchesani Syndrome 1
Joint stiffness, Broad ribs, Thin bony cortex OMIM:277600
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Failure to thrive, Pectus excavatum, Prominent floating ribs, Osteopetrosis ORPHA:2785
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness ORPHA:1300
Weill-Marchesani Syndrome 2
Joint stiffness, Thin bony cortex, Broad ribs, Flexion contracture of toe, Elbow flexion contract... OMIM:608328
Myhre Syndrome
Joint stiffness, Ataxia, Small for gestational age, Camptodactyly, Broad ribs, Obesity, Vertebral... OMIM:139210
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Delayed epiphyseal ossification, Short ribs, Horizontal inferior border of scapula,... OMIM:250220
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Broad ribs, Limited elbow extension, Umbilical hernia OMIM:301066
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook, Short ribs OMIM:613091
Cog1-Cdg
Posterior rib gap, Osteopenia, Rib fusion, Failure to thrive ORPHA:263508
Acrorenal-Mandibular Syndrome
Narrow chest, Congenital diaphragmatic hernia, Thin ribs, Hypoplastic scapulae, Elbow flexion con... OMIM:200980
Schinzel-Giedion Syndrome
Sclerosis of skull base, Abnormal clavicle morphology, Inguinal hernia, Camptodactyly, Radioulnar... ORPHA:798
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint hyperflexibility, Limited elbow extension, Camptodactyly, Horizontal ribs, Thoracolumbar ky... OMIM:618019
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology, Camptodactyly of finger, Joint hyperflexibility ORPHA:2907
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Thin ribs, Small for gestational age, Camptodactyly of finger, Arthrogryposis mu... OMIM:208150
Restrictive Dermopathy
Multiple joint contractures, Thin ribs, Aplasia/Hypoplasia of the clavicles, Osteopenia, Camptoda... ORPHA:1662
Zttk Syndrome
Rib fusion, Failure to thrive, Flexion contracture, Craniosynostosis, Cervical ribs, Joint hyperm... OMIM:617140
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Abno... ORPHA:373
Robinow Syndrome, Autosomal Recessive 1
Rib fusion, Pectus excavatum, Inguinal hernia, Joint laxity, Missing ribs, Umbilical hernia, Prox... OMIM:268310
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Inguinal hernia, Short ribs, Craniosynostosis, Joint laxity, Hori... OMIM:613610
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal... ORPHA:83617
Coccidioidomycosis
Osteomyelitis, Arthritis, Osteolysis, Broad ribs, Atypical scarring of skin, Panniculitis ORPHA:228123
Fryns Syndrome
Joint contracture of the hand, Thin ribs, Aplasia of the left hemidiaphragm, Camptodactyly, Large... OMIM:229850
Kbg Syndrome
Rib fusion, Cervical ribs, Vertebral fusion, Thoracic kyphosis OMIM:148050
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Narrow chest, Abnormal rib morphology ORPHA:93317
Monosomy 9P
Abnormal rib morphology, Congenital diaphragmatic hernia, Hernia, Limitation of joint mobility ORPHA:261112
Dextrocardia
Abnormal rib morphology ORPHA:1666
Autosomal Recessive Robinow Syndrome
Rib fusion, Pectus excavatum, Inguinal hernia, Camptodactyly of finger, Synostosis of carpal bone... ORPHA:1507
Microphthalmia, Syndromic 3
Rib fusion, Vertebral fusion, Supernumerary ribs, Missing ribs OMIM:206900
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Rib fusion, Failure to thrive, Congenital diaphragmatic hernia, Fused cervical... OMIM:157800
Kindler Epidermolysis Bullosa
Flexion contracture, Camptodactyly of finger, Abnormal rib morphology, Atypical scarring of skin,... ORPHA:2908
1P36 Deletion Syndrome
Bifid ribs, Joint stiffness, Rib fusion, Failure to thrive, Camptodactyly of finger, 11 pairs of ... ORPHA:1606
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Omphalocele ORPHA:991
Robinow Syndrome
Rib fusion, Small for gestational age, Fused thoracic vertebrae, Missing ribs, Umbilical hernia ORPHA:97360
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short clavicles, Pectus excavatum, Inguinal hernia, Craniosynostosis, Undulate ribs, Knee flexion... OMIM:609945
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Reduced subcutaneous adipose tissue, Failure to thrive, Lipoatrophy, Thin ribs, Fle... OMIM:264090
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Broad ribs, Thin bony cortex OMIM:619727
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Inguinal hernia, Limited elbow movement, Radioulnar synostosis, Mis... OMIM:134780
Baller-Gerold Syndrome
Carpal synostosis, Rib fusion, Coronal craniosynostosis, Limited elbow movement, Sagittal cranios... OMIM:218600
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Decreased calvarial ossification, Barrel-shaped chest, Broad ... OMIM:276820
Renal Dysplasia-Limb Defects Syndrome
Short sternum, Thin ribs, Short ribs OMIM:266910
Smith-Lemli-Opitz Syndrome
Abnormal rib morphology, Congenital diaphragmatic hernia, Abnormal dental enamel morphology ORPHA:818
Wolf-Hirschhorn Syndrome
Rib fusion, Failure to thrive, Abnormal sternal ossification, Small for gestational age, Radiouln... OMIM:194190
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Inguinal hernia, Camptodactyly of finger, Arthritis, Umbilic... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Inguinal hernia, Camptodactyly of finger, Arthritis, Umbilic... ORPHA:217093
Alagille Syndrome 1
Abnormal rib morphology, Failure to thrive OMIM:118450
Charge Syndrome
Abnormal rib morphology, Abnormality of bone mineral density ORPHA:138
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs ORPHA:85167
Pallister-Hall Syndrome
Rib fusion OMIM:146510
Vater/Vacterl Association
Abnormal rib morphology, Failure to thrive, Abnormal sternum morphology, Radioulnar synostosis OMIM:192350
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Sagittal craniosynostosis, Cervical ribs, Joint hypermobility, Failure to thrive in i... ORPHA:500150
Ulbright-Hodes Syndrome
Short sternum, Thin ribs, Short ribs, Abnormal rib morphology, Humeroradial synostosis ORPHA:3404
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Horizontal ribs, Short ribs OMIM:617088
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Camptodactyly of finger, 11 pairs of ribs, Camptodactyly, Obesity OMIM:607872
Townes-Brocks Syndrome
Abnormal rib morphology, Failure to thrive ORPHA:857
Pallister-Hall Syndrome
Rib fusion, Inguinal hernia, Large for gestational age, Distal arthrogryposis, Umbilical hernia ORPHA:672
Charge Syndrome
Abnormal rib morphology, Down-sloping shoulders, Umbilical hernia, Omphalocele OMIM:214800

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