Gene Summary

Name:
bobby sox HMG box containing
Synonyms:
5530401J07Rik,  5730403O13Rik

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 body length Bbxtm1a(EUCOMM)Wtsi HOM Early adult 6.99×10-13
decreased lean body mass Bbxtm1a(EUCOMM)Wtsi HOM Early adult 1.80×10-07
increased thermal nociceptive threshold Bbxtm1a(EUCOMM)Wtsi HOM Early adult 2.57×10-10
abnormal tooth morphology Bbxtm1a(EUCOMM)Wtsi HOM Early adult 3.83×10-05
decreased bone mineral content Bbxtm1a(EUCOMM)Wtsi HOM Early adult 8.03×10-05
decreased body weight Bbxtm1a(EUCOMM)Wtsi HOM   Early adult 5.99×10-06

Download data as:  TSV  XLS

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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 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 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 Not available
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 Not available
Oviduct N/A heterozygote Not available
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 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 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 100% (2 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 50% (1 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.

Legacy Phenotype Associated Images

View all 82 images

Human diseases caused by Bbx 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 Bbx by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 33
Increased circulating IgA level, Hypodontia, Decreased circulating total IgM, Delayed eruption of... OMIM:300636
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Ca... ORPHA:2501
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Neutropenia, Chronic Familial
Premature loss of teeth, Increased circulating antibody level, Periodontitis, Gingivitis, Clubbin... OMIM:162700
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Broad jaw, Bowing of the long bones, T... ORPHA:53697
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... OMIM:265900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm... ORPHA:93308
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Hypochondroplasia
Malar flattening, Flared metaphysis, Brachydactyly, Genu varum, Limited elbow extension, Short lo... OMIM:146000
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Finger joint hypermobility, Generalized hypoplasia o... ORPHA:49042
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... OMIM:308230
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... OMIM:271530
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Okur-Chung Neurodevelopmental Syndrome
High palate, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:617062
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... ORPHA:1858
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Abnormal circulating IgM level, Brachydactyly... OMIM:618048
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... OMIM:601668
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Brach... ORPHA:3409
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Short 3rd metacarpal, Short 2nd metacarpal, Short 4th metacarpal, ... OMIM:118651
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:607271
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Irregular femoral epiphysis, Genu varum, Upper-l... OMIM:618728
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Acromicric Dysplasia
Narrow mouth, Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Long ph... OMIM:102370
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Pathologic fracture, Carious ... OMIM:146300
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Malar flattening, Cleft palate, Flared metaphys... OMIM:601561
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Generalized osteosclerosis, Flared elbow metaphyses, Short long bone ORPHA:1423
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Eclabion, Carious teeth, Natal tooth OMIM:616395
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Diastrophic Dysplasia
Hip contracture, Cleft palate, Small for gestational age, Costal cartilage calcification, Irregul... OMIM:222600
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... ORPHA:1310
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Dental malocclusion, Osteosclerosis of th... ORPHA:210110
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Decreased circulating IgA level, Decreased circulating IgG level, Persistence of pri... OMIM:619752
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:619824
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Joi... OMIM:147060
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Osteolysis, Osteoporosis ORPHA:100024
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:300400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Decreased circulating IgA level, Generalized bone demineralization, Small for gest... OMIM:215250
Simple Cryoglobulinemia
Abnormal heart morphology, Complement deficiency, Monoclonal elevation of circulating IgA, Arthri... ORPHA:91139
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly, Micro... ORPHA:3352
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited elbow exten... OMIM:604922
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Brachydactyly, Type B1
Joint contracture of the hand, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of the... OMIM:113000
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Increased circulating IgA level, Limitation of joint mobility, Art... ORPHA:343
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... OMIM:300861
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Abn... ORPHA:53
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Multiple Myeloma
Increased circulating IgA level, Osteopenia, Increased circulating IgG level, Pathologic fracture... ORPHA:29073
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased circulating IgG level, Aphthous ulcer, Clubbing of fingers, Increase... OMIM:615767
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, ... OMIM:617744
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... OMIM:600002
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Broad long bones, Malar flattening, Osteopenia, Flared meta... OMIM:269300
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Joint contracture of the hand, Macroglossia, Craniosynostosis, Dental crowding, Hip dislocation, ... OMIM:618523
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Sting-Associated Vasculopathy, Infantile-Onset
Joint stiffness, Failure to thrive, Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Pgm3-Cdg
High palate, Failure to thrive, Osteomyelitis, Increased circulating IgA level, Brachydactyly, In... ORPHA:443811
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Hypoplastic ilia, A... ORPHA:93296
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Abnormality of the dentition, Short 5th finger, Long philtrum, D... ORPHA:1951
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Pulmonic stenosis, Genu varum, Carious teeth, Genu valgum, Hypoplasia o... OMIM:613312
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Femoral bowing, Osteoporosis, Carious teeth OMIM:126550
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Increased circulating interleukin 8 concentration, Cardiomegaly, T... OMIM:256040
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, Decreased ... OMIM:618969
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Microgna... OMIM:265800
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Persistence o... OMIM:259710
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Iga Pemphigus
Oral mucosal blisters, Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619281
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Abnormality of the d... ORPHA:457395
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level, Failure to thrive in infancy OMIM:617099
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Short metacarpal, Cleft palate, Flexion contracture, Malar flattening, Micr... OMIM:215150
Adult-Onset Nemaline Myopathy
High palate, Flexion contracture, Micrognathia, Dilated cardiomyopathy, Paraproteinemia ORPHA:171442
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Thrombocytopenia 1
Joint hemorrhage, Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Decr... ORPHA:3261
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level, Osteoporosis ORPHA:186
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Flat capital femoral epiphysis, Cone-shaped epiphyses of the ... OMIM:190350
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Tooth agenesis, Microretrognathia, Small for gestational age, Osteopenia, De... OMIM:616229
Mucopolysaccharidosis Type 4
Wide mouth, Reduced bone mineral density, Abnormality of the dentition, Grayish enamel, Carious t... ORPHA:582
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Alg12-Cdg
Failure to thrive, Abnormal bone ossification, Partial absence of specific antibody response to H... ORPHA:79324
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Atrial septal defect, Hypodontia, Cleft palate, Short long bone... OMIM:619184
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Wide mouth, Decreased circulating IgA level, Long philtrum, Large... OMIM:616638
Desbuquois Dysplasia 2
Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Short long bone, Epiphyseal dyspl... OMIM:615777
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Secundum atrial septal defect, ... OMIM:611926
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Failure to thrive, Carious teeth OMIM:226700
Insulin-Resistance Syndrome Type B
Decreased body weight, Decreased serum complement factor B, Increased circulating IgA level, Oste... ORPHA:2298
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circu... OMIM:619510
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Abnormal heart mo... ORPHA:1505
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Sinusitis, Macroglossia, Malar flattening, Mi... OMIM:242860
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Increased bo... ORPHA:763
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level, Narrow mouth, Malar flattening DECIPHER:45
Dysostosis, Stanescu Type
Tooth agenesis, Increased bone mineral density, Massively thickened long bone cortices, Macroglos... ORPHA:1798
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level, Oral ulcer, Arthritis OMIM:260920
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Ventricular septal d... OMIM:271640
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Aortic valve stenosis, Constricted... OMIM:253010
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Thick upper lip vermilion, Delayed epiphyseal ossification, Wide mouth, Short toe, Flexion contra... OMIM:611717
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, S... ORPHA:93324
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Tooth malposition, Osteopen... OMIM:156400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Premature loss of teeth, Decreased circulating IgA level, Atrial septal defect, High, narrow pala... ORPHA:369837
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... ORPHA:2442
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Cleft palate, Reduced bone mineral density, Abnormally ossified vertebrae,... ORPHA:94068
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Reduced delayed hypersensitivity, Increased circulating IgM level, Red... OMIM:617241
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... OMIM:257850
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Vertebral fusion, S... OMIM:618845
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Osteopenia, Abnormality of th... ORPHA:2314
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Short long bone, Retrognathia, Micrognathia, Narrow greater sciatic notch, M... OMIM:263210
Schnitzler Syndrome
Increased circulating IgM level, Increased bone mineral density, Arthritis ORPHA:37748
Ellis-Van Creveld Syndrome
Cleft upper lip, Acetabular spurs, Abnormality of the alveolar ridges, Atrial septal defect, Hypo... OMIM:225500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Abnormality of humoral immunity, Increased... ORPHA:277
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, M... OMIM:250420
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Os... OMIM:259700
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Immunodeficiency 72 With Autoinflammation
Clubbing of fingers, Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Joint contracture of the hand, Cleft palate, Malar flatten... OMIM:224400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Juvenile rhe... ORPHA:275
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Malar flattening, Micrognathia, Bowing of the long bones, Short long bone OMIM:224410
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Increased circulating IgA level, Cr... ORPHA:48435
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Monosomy 18Q
High palate, Wide mouth, Decreased circulating IgA level, Absence of the pulmonary valve, Secundu... ORPHA:1600
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the maxilla, Sho... OMIM:300106
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Thick upper lip vermilion, Wide mouth, Limited pronation/supination of forearm, Narrow philtrum, ... ORPHA:163654
Achondrogenesis, Type Ii
Cleft palate, Short tubular bones of the hand, Absent vertebral body mineralization, Hypoplastic ... OMIM:200610
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Decreased cranial base ossification, Hypoplastic ilia, Hypoplastic pubic bon... OMIM:151210
Geleophysic Dysplasia 1
Mitral stenosis, Joint stiffness, Wide mouth, Irregular capital femoral epiphysis, Coxa valga, Jo... OMIM:231050
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Xylt1-Cdg
Short clavicles, Cleft palate, Flared metaphysis, Long philtrum, Short femoral neck, Truncal obes... ORPHA:370930
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:616100
Gaucher Disease Type 1
Increased circulating antibody level, Increased bone mineral density, Osteopenia, Osteoarthritis,... ORPHA:77259
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Coxa vara, Hypoplastic acetabulae, Failure to thrive... ORPHA:239
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Osteopetrosis, Decreased circul... OMIM:612301
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... OMIM:615559
Immunodeficiency 27A
Hypoplasia of the femoral head, Increased circulating IgG level, Increased circulating IgM level,... OMIM:209950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Open mouth, Narrow greater sciatic notch, Micrognathia, Decreased circulating t... ORPHA:508533
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Abnormal salivary gland morphology, Increased circulating IgG4 l... ORPHA:79078
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive OMIM:615285
Frank-Ter Haar Syndrome
High palate, Wide mouth, Osteopenia, Ventricular septal defect, Bowing of the long bones, Short l... OMIM:249420
Faciocardiomelic Syndrome
Wide mouth, Dental malocclusion, Osteopenia, Micrognathia, Hyperplasia of the maxilla, Long philt... OMIM:612731
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... ORPHA:50814
Stuve-Wiedemann Syndrome 1
Pursed lips, Femoral bowing, Carious teeth, Ulnar deviation of finger, Contracture of the proxima... OMIM:601559
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... ORPHA:485
Mogs-Cdg
High palate, Decreased circulating IgA level, Decreased circulating IgG level, Atrial septal defe... ORPHA:79330
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Malar flattening, Cleft palate, ... OMIM:269250
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Bowing of the legs, Metaphyseal wideni... ORPHA:93352
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology ORPHA:482
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Brachydactyly, Coarse metaphyseal trabecularization, Short long bone, Squar... OMIM:618961
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Short philtrum, Limited elbow extension, Camptodactyly, Slender ... OMIM:613385
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Osteoporosis, Enamel hypoplasia, Stomatitis, ... OMIM:212750
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Abnormal B cell ... OMIM:619652
Greenberg Dysplasia
Anterior rib punctate calcifications, Hypoplasia of the maxilla, Tetraphocomelia, Bone marrow hyp... OMIM:215140
Sponastrime Dysplasia
Microdontia, Hypoplasia of the nasal bone, Genu valgum, Hip subluxation, Small epiphyses, Mandibu... ORPHA:93357
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Tooth malposition, Malar flattening, Failure... ORPHA:2769
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Small for gestational age, Iliac crest serration, Deep philtrum, Hypoplastic... OMIM:613320
Fibrochondrogenesis 1
Short palm, Narrow mouth, Clinodactyly of the 5th finger, Joint contracture of the hand, Cleft pa... OMIM:228520
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Hypoplasia of the maxilla, Sandal gap, Bowing of the long... ORPHA:1106
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... OMIM:200990
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Craniosynostosis, Thin vermilion border, Micrognathia, Hypoplasia of ... ORPHA:96097
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Reduced bone mineral density, Small for g... ORPHA:2909
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Dislocation of the femoral head, Delayed epiphyseal ossification, Narrow mouth, Metaphyseal irreg... OMIM:616007
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Short distal phalanx of finger, Metaphyseal irregularity, Abnormal bone ossification... ORPHA:93315
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short distal phalanx of finger, Cleft palate, Postaxial polydactyly, Short uvula, Ag... OMIM:614091
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Interstitial Lung Disease 2
Clubbing of fingers, Increased circulating antibody level OMIM:178500
Immunodeficiency, Common Variable, 10
Recurrent sinusitis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ... OMIM:615577
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Narrow mouth, Cleft palate, Flexion contracture, Short long bone, Micrognathi... ORPHA:1865
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:614700
Chilblain Lupus
Finger swelling, Increased circulating antibody level ORPHA:90280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu... ORPHA:331206
Achondroplasia
Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciatic notch, Hip joint hyper... ORPHA:15
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Shallow... OMIM:252600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, Oral cleft, Postaxial hand pol... OMIM:615630
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... ORPHA:2751
Poems Syndrome
Increased circulating antibody level, Sclerosis of skull base, Sclerosis of foot bone, Metaphysea... ORPHA:2905
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Metaphyseal sclerosis, Osteopenia, Abnormality of the dentition, Delay... ORPHA:221016
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality ... OMIM:620040
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Flexion cont... OMIM:212065
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu... ORPHA:276
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Atrial septal defect, Craniosyn... OMIM:620005
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Delayed epiphyseal ossification, Cone-shaped epiphyses of the p... OMIM:250220
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Wide mouth, Decreased circulating IgA level, Long philtrum, Large for gestational age, Open mouth ORPHA:457485
Mucolipidosis Ii Alpha/Beta
Wide mouth, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of... OMIM:252500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Sinusitis, Absent specific antibody response,... OMIM:102700
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Cleft palate, Femoral bowing, Short 1st metacarp... OMIM:114290
Myeloma, Multiple
Paraproteinemia OMIM:254500
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Increased circulating IgG level, Limited hip movement, Limitation of movem... ORPHA:206594
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:90362
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... OMIM:182250
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Acetabular spurs, Absent tibia, Metaphyseal spurs, Cleft palate, Postaxial polyd... OMIM:613091
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating anti... OMIM:308240
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:275350
Camurati-Engelmann Disease
Slender build, Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of lon... ORPHA:1328
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Limitation of joint mobility, Arthritis ORPHA:69126
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Pyknoachondrogenesis
Sclerosis of skull base, Abnormal iliac wing morphology, Poorly ossified vertebrae, Hypoplastic i... ORPHA:3003
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Flexion contracture, Osteopenia, Osteoporosis OMIM:613327
Gaucher Disease Type 3
Increased circulating antibody level, Aortic valve calcification, Increased bone mineral density,... ORPHA:77261
Inflammatory Pseudotumor Of The Liver
Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
Dubowitz Syndrome
High palate, Decreased circulating IgA level, Clinodactyly of the 5th finger, Decreased circulati... OMIM:223370
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Leishmaniasis
Increased circulating antibody level, Weight loss, Abnormal oral mucosa morphology, Abnormal oral... ORPHA:507
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, We... ORPHA:449400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperostosis, Subperiosteal bone formation OMIM:211900
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormal bone structure, Abnormalit... ORPHA:321
Atelosteogenesis Type I
Cleft palate, Abnormal ossification involving the femoral head and neck, Short femur, Micrognathi... ORPHA:1190
Bloom Syndrome
Decreased circulating IgA level, Clinodactyly of the 5th finger, Decreased circulating IgG level,... OMIM:210900
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Macroglossia, Flexion contracture, Flared iliac wing, Metaphyseal widening,... OMIM:617303
Myhre Syndrome
Cleft palate, Short philtrum, Cone-shaped epiphysis, Ventricular septal defect, Hypoplasia of the... OMIM:139210
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Robinow Syndrome, Autosomal Dominant 1
High palate, Triangular mouth, Duplication of the distal phalanx of hand, Delayed eruption of tee... OMIM:180700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level OMIM:616005
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
High palate, Broad metacarpals, Broad phalanx, Bowing of the legs, Short metacarpal, Malar flatte... OMIM:271665
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Narrow greater sciatic notch, Postaxial polydactyly, Micrognathia, Decreased calvar... OMIM:617925
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Failure to thrive, Flexion contracture, Arthriti... OMIM:617591
Immunodeficiency 97 With Autoinflammation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619802
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinusitis, Decreased circulating total IgM, Increased circulating IgE level, Increased ... OMIM:243700
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal irregularity, Metaphyseal dysplasia, Metaphyseal cupping, Radial bowing, Short long b... OMIM:618019
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Failure to thrive, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing,... OMIM:615503
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered finger, Short pro... ORPHA:3472
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased circulating antibody level, Increa... ORPHA:355
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent sinusitis, Increased circulating IgE level ORPHA:217390
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia ORPHA:329918
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:420741
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 47
Failure to thrive, Decreased circulating total IgA, Decreased circulating total IgM, Chronic decr... OMIM:300972
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Rheumatoid arthritis, Decreased... ORPHA:183675
Aspergillosis
Abnormal long bone morphology, Increased circulating IgE level, Osteomyelitis, Sinusitis ORPHA:1163
Prolidase Deficiency
High palate, Increased circulating antibody level, Micrognathia, Failure to thrive OMIM:170100
Bloom Syndrome
Abdominal obesity, Decreased circulating IgA level, Cheilitis, Decreased circulating IgG level, M... ORPHA:125
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Al Amyloidosis
Increased circulating antibody level, Abnormal cardiac ventricle morphology, Macroglossia, Abnorm... ORPHA:85443
Tularemia
Increased circulating antibody level, Oral ulcer ORPHA:3392
Immunodeficiency 23
High palate, Failure to thrive, Increased circulating IgG level, Increased circulating IgM level,... OMIM:615816
Cystic Echinococcosis
Increased circulating antibody level, Weight loss, Bone cyst, Abnormal heart morphology ORPHA:400
Cog1-Cdg
High palate, Failure to thrive, Narrow mouth, Atrial septal dilatation, Osteopenia, Micrognathia,... ORPHA:263508
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Increased circulating IgG level OMIM:618495
Lead Poisoning
Small for gestational age, Delayed eruption of teeth, Abnormality of humoral immunity, Increased ... ORPHA:330015
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Netherton Syndrome
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Viss Syndrome
High palate, Ventricular septal defect, Genu valgum, Broad uvula, Contracture of the proximal int... OMIM:619472
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Zika Virus Disease
Increased circulating IgM level, Arthritis ORPHA:448237
Pyoderma Gangrenosum
Rheumatoid arthritis, Increased circulating antibody level ORPHA:48104
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Flexion contracture, Short humerus, Long philtrum, Microdontia, Brachydactyly, Sh... OMIM:619479
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, D... OMIM:208900
Alveolar Echinococcosis
Increased circulating antibody level, Bone cyst, Abnormal pericardium morphology, Abnormal pelvis... ORPHA:284
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Sialadenitis, Complement deficiency, Increased circulating ... ORPHA:449432
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Block verte... OMIM:306955
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short toe, Bowing of the arm, Brachydactyly, Lobulated tongue, Hamartoma of t... OMIM:269860
Q Fever
Increased circulating antibody level, Osteomyelitis, Cryoglobulinemia, Endocarditis, Myocarditis,... ORPHA:781
Simpson-Golabi-Behmel Syndrome
Wide mouth, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Mandibular progn... ORPHA:373
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Decreased circulating IgG level, Atrial septal defect, Flexion contracture, Macr... ORPHA:505248
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Arthritis ORPHA:2137
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... ORPHA:1031
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Increased circulating IgE level, Arthritis OMIM:304790
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Joint contracture of the hand OMIM:208910
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Bone cyst, Abnormal salivary gland morphology, Arthritis, W... OMIM:181000
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Cleft palate, Brachydactyly, Postaxial polysyndactyly of foot, Hamartoma of... OMIM:263520
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Accessory oral frenulum, Short clavicles, Supernumerary tooth, Hypodontia, Postaxial polydactyly,... OMIM:617088
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Increased circulating IgE level, Oral ulcer, Panhypogammaglobulinemia OMIM:602450
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating total IgM, Constrictive pericarditis, Decr... ORPHA:90363
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Osteomyelitis, Decreased circulating t... OMIM:619381
Selective Igm Deficiency
Rheumatoid arthritis, Decreased circulating total IgM, Decreased specific antibody response to va... ORPHA:331235
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss ORPHA:2902
Coccidioidomycosis
Osteomyelitis, Increased circulating IgG level, Arthritis, Abnormal long bone morphology, Abnorma... ORPHA:228123
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Brucellosis
Failure to thrive, Osteomyelitis, Small for gestational age, Endocarditis, Increased circulating ... ORPHA:1304
Pneumocystosis
Increased circulating antibody level, Weight loss ORPHA:723
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Lysinuric Protein Intolerance
Increased circulating antibody level, Failure to thrive, Osteopenia, Complement deficiency, Osteo... ORPHA:470
Encephalitis Lethargica
Increased circulating antibody level, Stiff neck ORPHA:83600
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Scleromyxedema
Narrow mouth, Paraproteinemia ORPHA:167635
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Paraproteinemia ORPHA:439232
Congenital Analbuminemia
Increased circulating antibody level, Obesity, Small for gestational age ORPHA:86816
Igg4-Related Kidney Disease
Sialadenitis, Increased circulating IgG1 level, Decreased serum complement C3, Complement deficie... ORPHA:449395
Japanese Encephalitis
Increased circulating antibody level, Stiff neck, Elbow flexion contracture, Increased circulatin... ORPHA:79139
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Increased circulating IgG level, Decreased T c... OMIM:618213
Lassa Fever
Increased circulating IgM level ORPHA:99824
Cysticercosis
Increased circulating antibody level, Stiff neck, Abnormal myocardium morphology ORPHA:1560
Mevalonic Aciduria
Failure to thrive, Increased circulating IgD level, Failure to thrive in infancy OMIM:610377
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Arthritis, Weight loss, Hypertrophic cardiomyopathy, Perica... OMIM:615846
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Increased circulating IgE level, Osteomyelitis, Failure to thrive in infancy ORPHA:37042
Rift Valley Fever
Increased circulating IgM level, Gingival bleeding, Increased circulating IgG level ORPHA:319251
Primary Sjögren Syndrome
Increased circulating antibody level, Decreased serum complement C3, Complement deficiency, Decre... ORPHA:289390
Primary Sclerosing Cholangitis
Osteopenia, Weight loss, Polyclonal elevation of IgM, Osteoporosis ORPHA:171
Trichinellosis
Increased circulating IgE level, Trismus ORPHA:863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Myocarditis, Gingival bleeding, Pericardial effusion, Increased ... ORPHA:99827
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Igg4-Related Ophthalmic Disease
Sinusitis, Sialadenitis, Increased circulating IgG4 level, Increased circulating IgE level, Abnor... ORPHA:449563
Marburg Hemorrhagic Fever
Increased circulating antibody level, Pericarditis, Arthritis ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Weight loss, Increased circulating IgG level ORPHA:91500
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829

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 Bbx

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 Bbx.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Bbxtm1a(EUCOMM)Wtsi