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Genes Phenotypes Help, News, Blog

Gene: Arl6ip5 MGI:1929501

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ADP-ribosylation factor-like 6 interacting protein 5
Synonyms:
Gtrap3-18,  5930404D22Rik,  addiscin,  Aip-5

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Arl6ip5 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 Arl6ip5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Extensor Tendons Of Finger Anomalies
Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Ging... OMIM:228600
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Isolated Glycerol Kinase Deficiency
Osteoporosis, Scoliosis, Hyperlordosis ORPHA:408
Osteoporosis
Osteoporosis OMIM:166710
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Indolent Systemic Mastocytosis
Skin rash, Maculopapular exanthema, Hematological neoplasm, Pruritus, Splenomegaly, Osteoporosis,... ORPHA:98848
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... OMIM:259450
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral... OMIM:271530
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Congenital Bile Acid Synthesis Defect Type 1
Pruritus, Splenomegaly, Failure to thrive, Osteoporosis ORPHA:79301
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Weight loss ORPHA:100024
Forsythe-Wakeling Syndrome
Osteoporosis, Decreased body weight OMIM:613606
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... OMIM:618392
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis OMIM:618234
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones ORPHA:53697
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Joint contracture, Scoliosis OMIM:611225
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Failure to thrive, Osteoporosis, Kyphoscoliosis OMIM:614727
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, Hip contracture, Generalized lymphadenopathy, B-cell lymphoma, Ankle flexion cont... OMIM:620232
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis, Scoliosis, Short neck OMIM:616033
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Warburg Micro Syndrome 1
Failure to thrive, Osteoporosis, Joint hypermobility, Kyphoscoliosis OMIM:600118
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Eczema OMIM:620007
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Hematological neoplasm, Pruritus, Hypersplenism, Osteoporosis, Osteolysi... ORPHA:98850
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Joint con... OMIM:208230
Mycetoma
Back pain, Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal ... ORPHA:2583
Sialidosis Type 2
Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis ORPHA:87876
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Neoplasm OMIM:219080
Bethlem Myopathy 2
Kyphosis, Distal joint laxity, Flexion contracture, Scoliosis OMIM:616471
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Failure to thrive, Neoplasm, Reduced bone mineral density ORPHA:172
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Obesity, Flexio... ORPHA:3409
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... OMIM:614856
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Kyphoscoliosis, Flexion contracture, Osteoporosis, ... OMIM:214150
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis ORPHA:71267
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Geroderma Osteodysplastica
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... ORPHA:2078
Perrault Syndrome 1
Osteoporosis, Scoliosis OMIM:233400
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Platyspondyly, Osteoporosis ORPHA:319195
Pseudopseudohypoparathyroidism
Osteoporosis, Obesity, Short neck OMIM:612463
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Scoliosis, Generalize... OMIM:613849
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteoporosis, Osteosarcoma OMIM:601811
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Failure to thrive, Osteoporosis ORPHA:369
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Prieto Syndrome
Osteoporosis OMIM:309610
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Joint hyperflexibility ORPHA:319199
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee... OMIM:313420
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave vertebral bodies... OMIM:236200
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join... ORPHA:1159
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Shoulder fl... OMIM:255800
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... ORPHA:85194
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo... ORPHA:2796
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna ORPHA:77296
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Slender build, Joint hyper... OMIM:300831
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myelodysplasia, Hematological neoplasm, Pruritus, Splenomegaly, Lymphoma,... ORPHA:98849
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Mucopolysaccharidosis, Type Iva
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Desbuquois Dysplasia 1
Joint laxity, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific... OMIM:251450
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
Werner Syndrome
Renal neoplasm, Increased bone mineral density, Acral lentiginous melanoma, Joint stiffness, Oste... ORPHA:902
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight, Acne OMIM:615830
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... ORPHA:536516
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Large for gestational age, Cuboid-shaped vertebral bodies, Os... OMIM:239850
Hyperzincemia With Functional Zinc Depletion
Skin rash, Osteoporosis OMIM:601979
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Camp... ORPHA:2848
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Abdominal obesity, Biconcave vertebral bodies... OMIM:219090
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility OMIM:619131
Refractory Celiac Disease
Inflammatory abnormality of the skin, Lymphoma, Osteoporosis, Weight loss, Abnormal spleen physio... ORPHA:398063
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:610475
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos... OMIM:618484
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures ORPHA:3454
Ovarian Dysgenesis 8
Eunuchoid habitus, Osteoporosis OMIM:618187
Odontochondrodysplasia 1
Biconvex vertebral bodies, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, Delayed ossifica... OMIM:184260
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Synostosis of carpal b... ORPHA:93351
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis ORPHA:199354
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Weismann-Netter Syndrome
Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosi... OMIM:239000
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Osteoporosis, Scoliosis OMIM:615381
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Recurrent fractures, Short neck, Camptodactyly of finger, Joint stiffne... ORPHA:2176
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... OMIM:615290
Fetal Akinesia Deformation Sequence 4
Kyphosis, Arthrogryposis multiplex congenita, Camptodactyly, Short neck OMIM:618393
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Biconcave vertebral bod... OMIM:617952
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Eczema, Kyphosis, Congenital contracture, Joint contracture of the 5th... ORPHA:352490
Niemann-Pick Disease, Type A
Splenomegaly, Failure to thrive, Osteoporosis, Lymphadenopathy OMIM:257200
Juvenile Paget Disease
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl... OMIM:616507
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility OMIM:619718
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Hyperexten... ORPHA:75840
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ... OMIM:253010
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility ORPHA:1875
Cranioectodermal Dysplasia
Joint hyperflexibility, Osteoporosis, Craniosynostosis ORPHA:1515
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Thoracic kyphoscoliosis, Osteoporosis, Decreased body weight OMIM:616200
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b... ORPHA:970
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Abnormal for... ORPHA:371428
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:1548
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Flexion contracture, Osteoporosis, Scoliosis OMIM:615851
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility, Scoliosis ORPHA:1901
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Spinal rigidity, Hyperlordosis, Splenomegaly, Flexion contracture, Osteoporosis, Scol... OMIM:613327
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle f... OMIM:259600
Hjv Or Hamp-Related Hemochromatosis
Osteoporosis ORPHA:79230
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:610489
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Oste... OMIM:620351
Immunodeficiency 12
Skin rash, Osteoporosis, Decreased body weight OMIM:615468
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolytic defects... OMIM:259100
Propionic Acidemia
Failure to thrive, Osteoporosis, Eczema OMIM:606054
Analbuminemia
Osteoporosis OMIM:616000
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Werner Syndrome
Low back pain, Osteoporosis, Reduced bone mineral density, Meningioma, Osteosarcoma OMIM:277700
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... OMIM:313400
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... OMIM:156530
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Truncal obesity, Failure to thrive, Osteoporosis ORPHA:73272
Familial Isolated Hyperparathyroidism
Parathyroid adenoma, Osteopenia, Generalized osteoporosis ORPHA:99879
Celiac Disease, Susceptibility To, 1
Eczema, Lymphoma, Osteoporosis, Rickets, Weight loss, Failure to thrive OMIM:212750
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita ORPHA:178148
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Subaortic Stenosis-Short Stature Syndrome
Acne, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones ORPHA:3191
Methylcobalamin Deficiency Type Cble
Failure to thrive, Osteoporosis, Scoliosis ORPHA:2169
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Pseudohypoparathyroidism, Type Ia
Subcutaneous ossification, Osteoporosis, Obesity, Short neck OMIM:103580
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Short neck OMIM:611890
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Large for gestational age, Osteoporosis, Scoliosis, Lambdoidal craniosynostosis OMIM:615398
Frank-Ter Haar Syndrome
Acne, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaking of verte... ORPHA:137834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Renal neoplasm, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid vertebr... ORPHA:536467
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density ORPHA:2617
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Osteoporosis, Scoliosis OMIM:617190
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Pituitary adenoma, Osteoporosis, Increased body weight, Increased susceptibility to fractur... ORPHA:189427
19P13.3 Microduplication Syndrome
Osteoporosis, Kyphoscoliosis ORPHA:447980
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:2614
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivory epiphyses of the phalanges... OMIM:226980
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Visceral angi... ORPHA:628
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for ... ORPHA:2959
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Osteoporosis OMIM:266510
Flynn-Aird Syndrome
Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis ORPHA:2047
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:615834
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Nephroblastoma, Large for gestational age OMIM:618272
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi... OMIM:254090
Mucolipidosis Iii Gamma
Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:252605
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Small for gestational age, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossificatio... ORPHA:93360
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, ... OMIM:609128
Classic Galactosemia
Osteoporosis, Reduced bone mineral density ORPHA:79239
Aicardi-Goutieres Syndrome 9
Chilblains, Osteoporosis, Weight loss, Hepatosplenomegaly, Scoliosis, Failure to thrive OMIM:619487
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Visceral angiomatosis, Ovarian neoplasm, Reduced bone mineral density, Neopl... ORPHA:137608
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Short neck OMIM:612462
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Obesity, Scoliosis OMIM:618124
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... OMIM:619040
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Macs Syndrome
Joint laxity, Osteoporosis, Scoliosis, Decreased body weight, Joint hypermobility OMIM:613075
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific... ORPHA:93314
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Osteoporosis,... OMIM:102500
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ... ORPHA:800
Alpha-Mannosidosis
Craniofacial hyperostosis, Short neck, Kyphosis, Splenomegaly, Arthritis, Scoliosis, Synostosis o... ORPHA:61
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Acne ORPHA:785
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:2471
Rhizomelic Syndrome, Urbach Type
Acne, Short neck, Kyphosis, Limitation of joint mobility, Abnormal form of the vertebral bodies ORPHA:3098
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... OMIM:166220
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Osteopo... OMIM:309583
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Thrombocytopenia 6
Myelofibrosis, Osteoporosis OMIM:616937
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Finger joint hypermobility, Sc... ORPHA:363705
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Splenomegaly, Osteoporosis, Weight loss, Arthritis, Stiff interphalangeal joints ORPHA:465508
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... OMIM:607326
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Clark-Baraitser syndrome
Joint laxity, Kyphosis, Obesity, Scoliosis OMIM:300602
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis, Obesity, Abdominal obesity, Scoliosis, Failure to thrive ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obesity... ORPHA:398069
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:816
Sickle Cell Anemia
Abnormality of the spleen, Osteomyelitis, Osteoporosis ORPHA:232
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Hemochromatosis, Type 1
Splenomegaly, Osteoporosis OMIM:235200
Beta-Thalassemia Intermedia
Osteopenia, Splenomegaly, Osteoporosis, Increased susceptibility to fractures, Hepatosplenomegaly... ORPHA:231222
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Recurrent fractures, Joint hypermobility, Short neck, Craniosynostosis, Osteoporosis,... OMIM:245600
Perrault Syndrome 4
Osteoporosis, Obesity OMIM:615300
Baralle-Macken Syndrome
Kyphosis, Obesity OMIM:619255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis OMIM:255200
Diamond-Blackfan Anemia 7
Osteopenia, Osteoporosis, Scoliosis OMIM:612562
Menkes Disease
Joint laxity, Osteoporosis OMIM:309400
Hajdu-Cheney Syndrome
Osteopenia, Failure to thrive, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae,... ORPHA:955
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis ORPHA:1545
Becker Nevus Syndrome
Hamartoma, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2181
Spondyloarthropathy, Susceptibility To, 1
Back pain, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, H... OMIM:106300
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Flexion contracture, Obesity, Scoliosis, Camptodactyly, A... OMIM:615547
Rhyns Syndrome
Osteopenia, Osteoporosis OMIM:602152
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:98855
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, Platyspondyly ORPHA:1517
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Frank-Ter Haar Syndrome
Osteopenia, Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosi... OMIM:249420
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon... ORPHA:98863
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Osteoporosis, Weight lo... ORPHA:143
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Osteoporosis, Bone marrow hypocellularity OMIM:613989
Prader-Willi Syndrome
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity, Scoliosis, Fa... ORPHA:739
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hypocellularity, Sco... OMIM:612199
Farber Disease
Flexion contracture, Osteoporosis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, Failure to thrive ORPHA:333
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... OMIM:177170
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Distal joint laxity, Generalized joint l... ORPHA:1900
Prader-Willi Syndrome
Osteopenia, Failure to thrive in infancy, Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Sco... OMIM:176270
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Generalized joint laxity, Osteoporosis, Camptodactyly ORPHA:432
Lowry-Maclean Syndrome
Osteopenia, Osteoporosis, Craniosynostosis ORPHA:2409
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor... ORPHA:97685
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthrogryposis m... ORPHA:2671
Cleidocranial Dysplasia
Recurrent fractures, Abnormal sacrum morphology, Spina bifida occulta, Osteoporosis, Scoliosis, D... ORPHA:1452
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hyperextensibility of the finger joints, Scoliosis OMIM:619797
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Weismann-Netter Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Osteoporosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Lumbar scolios... OMIM:300998
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis ORPHA:702
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Scoliosis, Failure to thrive ORPHA:98754
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Occipital Horn Syndrome
Joint laxity, Pelvic bone exostoses, Kyphosis, Capitate-hamate fusion, Osteoporosis, Bladder carc... OMIM:304150
Achondroplasia
Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Spinal canal stenosis, Obesity, Thoracol... ORPHA:15
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy... OMIM:610915
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva... ORPHA:201
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges ... OMIM:601812
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent fractures, Splenomegaly, Lymphoma, Osteoporosis, Neoplasm, Bo... ORPHA:1775
Functioning Gonadotropic Adenoma
Osteopenia, Pituitary gonadotropic cell adenoma, Osteoporosis ORPHA:91348
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly, Failure to thrive ORPHA:583
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Scoliosis, Failure to thrive ORPHA:98793
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral density, Scoliosi... OMIM:112240
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:98853
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... OMIM:271640
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe,... OMIM:300280
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Scoliosis, Failure to thrive ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Scoliosis, Failure to thrive ORPHA:177901
Brittle Cornea Syndrome
Osteoporosis, Increased susceptibility to fractures, Joint hyperflexibility, Scoliosis, Camptodac... ORPHA:90354
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Congenital kyphoscoliosis, Multiple joint contractures, Joint hypermobility, Kyphosco... ORPHA:536471
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Flexion contracture of finger, Recurrent fractures, Camptodactyly of f... ORPHA:3206
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Pl... ORPHA:198
Stuve-Wiedemann Syndrome 1
Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion contracture,... OMIM:601559
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Kyphosis, Failure to thrive, Short neck OMIM:608776
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Kyphoscoliosis, Osteoporosis, Squamous cell carcinoma, Basal cell carc... OMIM:268400
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Obesity, Scoliosis ORPHA:464282
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Flexion contracture, Scoliosis OMIM:248800
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Dysostosis, Stanescu Type
Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Massively thicken... ORPHA:1798
Dietary Iron Overload Disease
Esophageal carcinoma, Osteoporosis ORPHA:139507
Osteogenesis Imperfecta
Osteopenia, Small for gestational age, Cervical kyphosis, Recurrent fractures, Kyphosis, Visceral... ORPHA:666
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi... OMIM:108300
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis ORPHA:79327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Failure to thrive, Osteoporosis, Increased body weight ORPHA:264580
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture OMIM:614438
Arthrogryposis, Distal, Type 5
Limited wrist extension, Kyphosis, Distal arthrogryposis, Congenital finger flexion contractures,... OMIM:108145
Ruvalcaba Syndrome
Kyphosis, Limited elbow extension, Scoliosis OMIM:180870
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Hypersplenism, Kyphosis, Osteoarthritis, Splenomegaly... ORPHA:77259
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral density, Joint h... ORPHA:582
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Kyphosis, Obesity, Scoliosis, Failure to thrive ORPHA:94065
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Squamous cell carcinoma of the skin, Bone marrow hypocellularity, Myelodysplasia OMIM:127550
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly ORPHA:231226
Atypical Werner Syndrome
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Failure to thrive, Limita... ORPHA:79474
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Xp21 Deletion Syndrome
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:261476
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... ORPHA:99889
Pycnodysostosis
Joint laxity, Increased bone mineral density, Hyperlordosis, Overweight, Kyphosis, Generalized os... ORPHA:763
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Osteoporosis, Abnormal form of the vertebral bodies, Abnormality of the ... ORPHA:280
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Osteoporosis, Obesity ORPHA:91
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... OMIM:618291
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Osteoporosis, Parathyro... ORPHA:99880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Osteoporosis, Increased body weight ORPHA:79240
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... OMIM:616294
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Eczema OMIM:169400
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Classic Homocystinuria
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Scoliosis ORPHA:394
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... OMIM:314580
X Small Rings
Reduced bone mineral density, Osteoporosis, Joint laxity, Short neck ORPHA:96201
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Cachexia, Kyphosis, Osteoporosis, Scoli... ORPHA:558
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Eczema, Scoliosis, Short neck ORPHA:488632
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo... ORPHA:2655
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Contracture of the proximal interphalan... ORPHA:2232
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis,... OMIM:162300
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Arthrogrypo... ORPHA:171436
Cowden Syndrome 6
Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Meningioma, Scol... OMIM:615109
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis, Bone marrow hypocellularity OMIM:224230
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Kyphosis, Abdominal obesity OMIM:300354
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Splenomegaly, Abnormal form of... ORPHA:354
Primary Sclerosing Cholangitis
Osteopenia, Pruritus, Splenomegaly, Osteoporosis, Weight loss, Hepatosplenomegaly, Adenocarcinoma... ORPHA:171
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Kyphoscoliosis, Osteoporosis, Platyspondyly, Progressive congenital sco... OMIM:225400
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short neck, Kyphosis, Achilles tendon contracture, Flexion contracture, Limited ... OMIM:301041
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis, Joint hyperflexibility ORPHA:2115
Beta-Thalassemia Major
Failure to thrive in infancy, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly ORPHA:231214
Cowden Syndrome 5
Kyphosis, Breast carcinoma, Hamartomatous polyposis, Meningioma, Scoliosis, Thyroid adenoma, Subc... OMIM:615108
Cockayne Syndrome B
Small for gestational age, Kyphosis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Iv... OMIM:133540
Hepatoerythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Pruritus, Splenomegaly, Osteoporosis, Osteolysis ORPHA:95159
Congenital Erythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Pruritus, Splenomegaly, Osteoporosis, Osteolysis... ORPHA:79277
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Myelodysplasia, Kyphosis, Scoliosis, Leukemia, Joi... OMIM:619951
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ... ORPHA:2311
Cowden Syndrome 1
Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Menin... OMIM:158350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Gm1-Gangliosidosis, Type I
Short neck, Joint stiffness, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Scoliosis, Bea... OMIM:230500
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Bone marrow hypocellularity OMIM:613990
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Limitation of joint mobility, Joint hyperflexibility ORPHA:93274
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital kyphoscoliosis, Kyphoscoliosis, Atlantoaxial instability, Osteoporosis, Sc... ORPHA:536545
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, ... ORPHA:391487
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Joint hypermobility OMIM:617821
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Osteoporosis ORPHA:2326
15Q14 Microdeletion Syndrome
Kyphosis, Acne, Scoliosis ORPHA:261190
Fountain Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi... ORPHA:3219
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Cushing Disease
Acne, Pituitary corticotropic cell adenoma, Osteoporosis, Increased body weight, Recurrent cutane... ORPHA:96253
Hurler-Scheie Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi... OMIM:607015
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gest... ORPHA:77301
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Lysinuric Protein Intolerance
Recurrent fractures, Splenomegaly, Osteoporosis, Truncal obesity, Failure to thrive OMIM:222700
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Emanuel Syndrome
Sacral dimple, Kyphosis, Scoliosis, Chronic oral candidiasis, Joint contracture, Failure to thrive OMIM:609029
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly ORPHA:3063
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Hypoplasia of the odon... OMIM:253220
Jaberi-Elahi Syndrome
Joint stiffness, Kyphosis, Scoliosis, Failure to thrive, Joint hypermobility OMIM:617988
Distal Triplication 15Q
Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodact... ORPHA:314588
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Marfanoid Habitus With Situs Inversus
Kyphosis, Hyperextensibility of the finger joints, Scoliosis OMIM:609008
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Kyphosis, Slender build, Scoliosis ORPHA:364028
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... OMIM:223800
Lathosterolosis
Lumbosacral meningocele, Osteoporosis, Hepatosplenomegaly, Pathologic fracture, Butterfly vertebrae OMIM:607330
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... OMIM:203500
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hyperlordosis, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive ORPHA:365
Primary Biliary Cholangitis
Pruritus, Osteoporosis ORPHA:186
Hardikar Syndrome
Thoracolumbar scoliosis, Pruritus, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly,... OMIM:301068
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:617143
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Joint hyperflexibility, Scoliosis ORPHA:85293
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Synostosis of carpal bones ORPHA:3121
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco... ORPHA:2050
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Failure to thrive, Osteoporosis, Scoliosis OMIM:203700
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2789
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Osteoporosis, Hodg... OMIM:305000
Marden-Walker Syndrome
Short neck, Kyphosis, Congenital contracture, Radioulnar synostosis, Scoliosis, Camptodactyly, Jo... OMIM:248700
Congenital Disorder Of Deglycosylation 1
Osteoporosis, Scoliosis, Decreased body weight OMIM:615273
Menkes Disease
Osteomyelitis, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperflexibility, Exos... ORPHA:565
Hurler Syndrome
Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, C... OMIM:607014
Prolactinoma
Osteopenia, Osteoporosis ORPHA:2965
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Scoliosis, Short neck ORPHA:420794
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Joint hyperflexibility, Scoliosis ORPHA:2616
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Scoliosis OMIM:618443
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Eczema, Kyphosis, Scoliosis, Failure ... OMIM:610443
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Trisomy 20P
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Reduced bon... ORPHA:261318
Trisomy 13
Kyphosis, Capillary hemangioma, Scoliosis ORPHA:3378
Wilson Disease
Osteomalacia, Splenomegaly, Osteoarthritis, Osteoporosis, Joint hypermobility OMIM:277900
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Finger joint hypermobility, Scoliosis OMIM:618493
Glycogen Storage Disease Ib
Splenomegaly, Osteoporosis, Gout OMIM:232220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... ORPHA:508533
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormality of the vertebral spinous processes, Osteoporosis, Increased susceptibilit... ORPHA:909
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Osteoporosis ORPHA:254892
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Failure to thrive in infancy, Short neck, Kyphosis, Osteoporosis, Obesity, Reduced bo... ORPHA:99413
Turner Syndrome
Osteopenia, Failure to thrive in infancy, Short neck, Kyphosis, Osteoporosis, Obesity, Reduced bo... ORPHA:881
Mosaic Monosomy X
Osteopenia, Failure to thrive in infancy, Short neck, Kyphosis, Osteoporosis, Obesity, Reduced bo... ORPHA:99228
Monosomy X
Osteopenia, Failure to thrive in infancy, Short neck, Kyphosis, Osteoporosis, Obesity, Reduced bo... ORPHA:99226
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... ORPHA:2636
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2479
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Ramon Syndrome
Kyphosis, Gingival fibromatosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis OMIM:266270
Glycerol Kinase Deficiency
Small for gestational age, Pathologic fracture, Osteoporosis OMIM:307030
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Vertebral segmentation defect, Scoliosis, Synostosis of carpal bones ORPHA:1005
Dpagt1-Cdg
Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Failure to thrive ORPHA:86309
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Osteoporosis, Reduced bone mineral density ORPHA:168558
Glass Syndrome
Generalized osteoporosis, Camptodactyly OMIM:612313
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Osteoporosis, Reduced bone mineral density ORPHA:289548
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Recurrent skin infections, Flexion contracture, Osteoporosis,... ORPHA:79408
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness ORPHA:392
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Osteoporosis, Squamous cell carcinoma, Pyoderma, Failure to thrive ORPHA:79404
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Osteoporosis, Gout, Increased susceptibility to fractures, Failure to thrive ORPHA:79259
3C Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangioma ORPHA:7
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Kyphosis, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis ORPHA:1855
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Multiple joint contractures, Thoracolumbar scoliosis, S... OMIM:265000
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Eczema, Short neck, Kyphosis, Prominent protruding coccyx, Prominent c... OMIM:300966
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphal... OMIM:618223
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Biconcave vertebral b... OMIM:130720
Glycogen Storage Disease Ia
Osteoporosis, Gout OMIM:232200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Cystic Fibrosis
Osteopenia, Failure to thrive, Osteoporosis, Decreased body mass index ORPHA:586
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis, Camptodactyly, Failure to thrive, Joint hypermobility OMIM:617602
Camurati-Engelmann Disease
Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint... ORPHA:1328
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive ORPHA:500055
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma, Platyspondyly, Exostoses OMIM:616482
Fucosidosis
Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae ORPHA:349
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Osteoporosis, Lower-limb joint contracture, Scoliosis, Lipoma ORPHA:459070
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Joint stiffness ORPHA:1860
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Scoliosis ORPHA:90322
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Kyphosis, Capillary hemangioma, Scoliosis, Arthrogryposis multiplex cong... ORPHA:2215
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Failure to thrive, Osteoporosis, Scoliosis OMIM:619525
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Scoliosis, Tracheo... ORPHA:140
Lysinuric Protein Intolerance
Osteopenia, Osteoporosis, Hepatosplenomegaly, Pathologic fracture, Failure to thrive ORPHA:470
Marshall-Smith Syndrome
Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu... OMIM:602535
Alexander Disease
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:58
Williams Syndrome
Osteopenia, Joint laxity, Sacral dimple, Increased bone mineral density, Failure to thrive in inf... ORPHA:904
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Limit... OMIM:271700
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fracture, Acute promyelocytic l... ORPHA:77293
Neurofibromatosis Type 1
Astrocytoma, Recurrent fractures, Joint stiffness, Kyphosis, Chronic myelogenous leukemia, Multip... ORPHA:636
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Tracheobronchomalacia OMIM:309900
Tsh-Secreting Pituitary Adenoma
Osteopenia, Osteoporosis, Weight loss ORPHA:91347
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Joint hyperflexibility, Vertebral segmentation defect, Scoliosis ORPHA:96169
Alstrom Syndrome
Kyphosis, Hyperostosis frontalis interna, Truncal obesity, Scoliosis OMIM:203800
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Failure to thrive, Osteoporosis, Reduced bone mineral density ORPHA:90796
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Mucolipidosis Type Ii
Hip contracture, Craniosynostosis, Limited wrist movement, Kyphosis, Splenomegaly, Limitation of ... ORPHA:576
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Limited hip extension, Decreased hip abduction, Kyphoscoliosis, Short neck,... OMIM:143095
Primrose Syndrome
Hip contracture, Joint hypermobility, Kyphosis, Flexion contracture, Osteoporosis, Knee flexion c... OMIM:259050
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma OMIM:300942
Mgat2-Cdg
Osteopenia, Kyphosis, Failure to thrive, Scoliosis ORPHA:79329
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibilit... ORPHA:192
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Kyphoscoliosis, Knee flexion contracture OMIM:210730
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... ORPHA:2769
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Obesity, Joint hyperflexibility, Scoliosis ORPHA:193
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Sacral dimple, Small for gestational age, Eczema, Testicular neoplasm, Hyperlordosi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Sacral dimple, Small for gestational age, Eczema, Testicular neoplasm, Hyperlordosi... ORPHA:363958
2P15P16.1 Microdeletion Syndrome
Kyphosis, Failure to thrive, Camptodactyly of finger, Scoliosis ORPHA:261349
Cranioectodermal Dysplasia 1
Joint laxity, Osteoporosis, Sagittal craniosynostosis OMIM:218330
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... ORPHA:3042
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Kyphosis, Failure to thrive, Flexion contracture OMIM:212065
46,Xy Partial Gonadal Dysgenesis
Nephroblastoma, Testicular gonadoblastoma, Osteoporosis, Gonadoblastoma, Ovarian gonadoblastoma ORPHA:251510
Micro Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:2510
Proteus Syndrome
Neoplasm of the thymus, Abnormal form of the vertebral bodies, Neoplasm of the central nervous sy... ORPHA:744
Cdags Syndrome
Kyphosis, Coronal craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis OMIM:603116
Poland Syndrome
Short neck, Retinal hamartoma, Kyphosis, Hemivertebrae, Finger symphalangism, Acute leukemia, Red... ORPHA:2911
Loeys-Dietz Syndrome 2
Joint laxity, Craniosynostosis, Osteoporosis, Scoliosis, Camptodactyly, Joint contracture of the ... OMIM:610168
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Camptodactyly OMIM:619123
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:476126
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Joint hypermobility ORPHA:536532
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Hyperextensibility of the finger joints, Contractures of the large j... ORPHA:521426
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Kyphosis, Cranial hyperostosis, Limitation of joint mobility, Joi... ORPHA:2658
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Eczema, Kyphosis, Scoliosis, Failure to t... ORPHA:464306
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Noonan Syndrome 14
Kyphosis, Limited elbow extension, Short neck OMIM:619745
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Failure to thrive in infancy, Kyphoscoliosis, Flexion contracture, Oste... OMIM:194050
Triosephosphate Isomerase Deficiency
Splenomegaly, Kyphosis, Failure to thrive OMIM:615512
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Contractures of the large joints OMIM:617527
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Kyphosis, Scoliosis, Fle... ORPHA:464311
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Large for gestational age, Hyperlordosis, Kyphosis, Scoliosis OMIM:617011
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Weaver Syndrome
Kyphosis, Scoliosis, Camptodactyly, Limited knee extension, Joint contracture of the hand, Limite... OMIM:277590
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Singleton-Merten Syndrome 1
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand, Scoliosis, Decreased b... OMIM:182250
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Platyspondyly, Scoli... OMIM:309000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Osteoporosis, Scoliosis ORPHA:438213
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Limitati... ORPHA:457359
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the vertebral bodies, Radiou... ORPHA:2461
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Craniosynostosis, Hyperextensibility of the finger joints OMIM:616914
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Capil... OMIM:619194
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Coronal craniosynostosis, Eczema, Tarsal synostosis ORPHA:85199
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:251014
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Stickler Syndrome
Cachexia, Kyphosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies,... ORPHA:828
Aspartylglucosaminuria
Joint laxity, Acne, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fracture, Beaki... OMIM:208400
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... OMIM:119600
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis, Decreased body weight OMIM:619005
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Osteomalacia, Recurrent fractures, Joint stiffness... ORPHA:534
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Abnormal ... OMIM:194190
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Basel-Vanagaite-Smirin-Yosef Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis ORPHA:464738
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Joint laxity, Osteomyelitis, Overweight, Kyphosis, Neurofibroma, Obesity, Abnormal cur... OMIM:619475
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:1507
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Failure to thrive, Joi... OMIM:617140
Cockayne Syndrome A
Hip contracture, Kyphosis, Splenomegaly, Limitation of joint mobility, Ivory epiphyses of the pha... OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phalanx of the thum... OMIM:300967
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
1P36 Deletion Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, Spinal canal steno... ORPHA:1606
Cockayne Syndrome
Cachexia, Kyphosis, Splenomegaly, Contractures of the large joints, Congenital contracture, Scoli... ORPHA:191
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Acromegaly
Acne, Kyphosis, Osteoarthritis, Spinal canal stenosis, Pituitary prolactin cell adenoma, Pituitar... ORPHA:963
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Mend Syndrome
Kyphosis, Sacral dimple, Failure to thrive ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple, Failure to thrive OMIM:300960
Cockayne Syndrome Type 3
Splenomegaly, Kyphosis, Flexion contracture, Scoliosis ORPHA:90324
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:818
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Small for gestational age, Failure to thrive in infancy, Kyphosis, Scoliosis ORPHA:268261
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgin... OMIM:300106
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Osteoporosis, Platyspondyl... ORPHA:79318
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Eczema, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Fa... ORPHA:2273
Wrinkly Skin Syndrome
Osteopenia, Kyphosis, Scoliosis, Failure to thrive, Joint hypermobility OMIM:278250
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight OMIM:303600
Somatomammotropinoma
Kyphosis, Pituitary adenoma, Osteoarthritis, Spinal canal stenosis, Pituitary prolactin cell aden... ORPHA:314769
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Sotos Syndrome
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Ankle flexion contracture, C... ORPHA:821
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis ORPHA:1393
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Viss Syndrome
Exostosis of the external auditory canal, Joint laxity, Joint hypermobility, Eczema, Kyphosis, Ge... OMIM:619472
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Kyphosis, Scoliosis, Hemangioma, Spina bifida occulta OMIM:135900
Branchiooculofacial Syndrome
Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles, Ha... OMIM:113620
Yunis-Varon Syndrome
Absent sternal ossification, Small for gestational age, Anterior concavity of thoracic vertebrae,... OMIM:216340
Alström Syndrome
Thoracic scoliosis, Kyphosis, Splenomegaly, Obesity, Hepatosplenomegaly, Truncal obesity, Hyperos... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Arl6ip5

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 Arl6ip5.

No publications found that use IMPC mice or data for Arl6ip5.

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
Arl6ip5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Arl6ip5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arl6ip5tm43433(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arl6ip5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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