Gene Summary

Name:
methyl-CpG binding domain protein 1
Synonyms:
PCM1,  Cxxc3

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
increased mean corpuscular hemoglobin Mbd1em1(IMPC)Wtsi HOM   Early adult 1.79×10-05
female infertility Mbd1em1(IMPC)Wtsi HOM Early adult 0.00
lordosis Mbd1em1(IMPC)Wtsi HOM Early adult 1.90×10-05
vertebral transformation Mbd1em1(IMPC)Wtsi HOM Early adult 3.11×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Legacy Phenotype Associated Images

View all 70 images

View all 9 images

Human diseases caused by Mbd1 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 Mbd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Thrombocytopenia, Anemia, Short neck, Abnormal ... ORPHA:3319
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Lumbar hyperlordosis OMIM:253320
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck OMIM:300718
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Atlantoaxial dislo... OMIM:600561
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Nijmegen Breakage Syndrome-Like Disorder
Microcephaly, Chromosomal breakage induced by ionizing radiation OMIM:613078
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Chromosomal Instability With Tissue-Specific Radiosensitivity
Microcephaly, Abnormality of chromosome stability OMIM:215510
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis OMIM:607088
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity OMIM:255600
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis OMIM:602484
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Back pain OMIM:618129
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Abnormality of chromosome stability OMIM:600546
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis OMIM:611067
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Myopathy, Congenital, With Tremor
Scoliosis, Lumbar hyperlordosis, Spinal rigidity OMIM:618524
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis OMIM:619042
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Fanconi Anemia, Complementation Group Q
Microcephaly, Chromosome breakage OMIM:615272
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... OMIM:184100
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis ORPHA:62
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... OMIM:618363
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormality of chromosome stability OMIM:614082
Immunodeficiency 54
Adrenocorticotropic hormone excess, Microcephaly, Chromosome breakage OMIM:609981
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Hypochondroplasia
Scoliosis, Hyperlordosis, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:429
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Fanconi Anemia, Complementation Group D1
Microcephaly, Chromosomal breakage induced by crosslinking agents OMIM:605724
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Cerebral atrophy OMIM:619060
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis OMIM:615290
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Spina bifida occulta, Short neck, Vertebral segmentation defect, Abnorm... ORPHA:1797
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Anauxetic Dysplasia 2
Hyperlordosis, Ovoid vertebral bodies, Cervical spine instability, Thoracolumbar kyphoscoliosis, ... OMIM:617396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
N Syndrome
Abnormality of chromosome stability OMIM:310465
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Cervical kyphosis, Incre... OMIM:256050
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:262
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Hydrocephalus, Chromosome breakage OMIM:614083
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis ORPHA:352470
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Fragile X Syndrome
Cerebral cortical atrophy, Folate-dependent fragile site at Xq28 ORPHA:908
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Abnormality of the inte... ORPHA:99642
Fanconi Anemia, Complementation Group S
Microcephaly, Chromosome breakage OMIM:617883
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, T... OMIM:264180
Achondroplasia
Lumbar hyperlordosis, Spinal stenosis with reduced interpedicular distance, Lumbar kyphosis in in... OMIM:100800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Secondary amenorrhea, Kyphosis ORPHA:3085
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Spinal rigidity ORPHA:157973
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central an... OMIM:313400
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Spinal rigidity ORPHA:267
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow v... OMIM:602557
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Anemia ORPHA:1192
Nemaline Myopathy 3
Scoliosis, Hyperlordosis, Spinal rigidity OMIM:161800
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Short neck, Kyphosis OMIM:252605
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Colpocephaly, Absent septum pellucidum, Micr... OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Vertebral fusion, Kyphosis OMIM:606612
Bloom Syndrome
Abnormality of chromosome stability, Microcephaly, Azoospermia, Chromosome breakage OMIM:210900
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Hyperlordosis, Platyspondyly, Beaking of vertebral b... ORPHA:1159
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis OMIM:615761
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Short neck, Abnormal vertebral morphology, Central verte... ORPHA:93352
Multiple Metaphyseal Dysplasia
Hyperlordosis ORPHA:93430
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis ORPHA:1387
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Nemaline Myopathy 2
Scoliosis, Hyperlordosis, Spinal rigidity OMIM:256030
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Lumbar hype... OMIM:609616
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Ataxia-Telangiectasia
Cognitive impairment, Abnormality of chromosome stability ORPHA:100
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2831
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis OMIM:253700
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Fanconi Anemia, Complementation Group N
Microcephaly, Chromosomal breakage induced by crosslinking agents OMIM:610832
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies OMIM:608728
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosis, Back pain, Lumbar hyperl... ORPHA:93284
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Pseudoachondroplasia
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Cer... ORPHA:750
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis ORPHA:369840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Lumbar hyperlordosis OMIM:271650
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Lymphopenia, Ovoid vertebral bodies, Neutropenia, Thrombocytope... OMIM:242900
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Anem... ORPHA:763
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Abnormal vertebral morphology, Kyphoscoliosis OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis OMIM:613156
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, Abnormal macrophage morphology, Lumbar hyperlordosis ORPHA:353
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis OMIM:300986
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3218
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Vertebral fusion, Kyphosis OMIM:607155
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:536516
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Vertebral segmentation defect ORPHA:1323
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Cartilage-Hair Hypoplasia
Scoliosis, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hy... OMIM:250250
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Back pain, Spina bifida occulta OMIM:169550
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, ... OMIM:253000
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracic kyphosis, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyp... ORPHA:3041
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, ... OMIM:253010
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Hypogonadotropic hypogonadism, Abnorma... ORPHA:848
Three M Syndrome 3
Hyperlordosis, Increased vertebral height, Short neck OMIM:614205
Meningioma
Cognitive impairment, Focal T2 hypointense thalamic lesion, Hydrocephalus, Enlarged pituitary gla... ORPHA:2495
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Kyphosis, Decreased fertility, Short neck ORPHA:2616
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Lumbar hyperlordosis, Spinal rigidity ORPHA:86812
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Platyspondyly, Thoracic kyphosis, Lumbar hyperlordosis, Short neck OMIM:304950
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Lumbar hyperlordosis OMIM:255310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain OMIM:167320
Three M Syndrome 1
Hyperlordosis, Increased vertebral height, Short neck, Spina bifida occulta OMIM:273750
Oculocerebrodental Syndrome
Scoliosis, Thoracic kyphosis, Hyperlordosis ORPHA:557003
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Lumbar hype... OMIM:183900
Icf Syndrome
Abnormality of chromosome stability, Communicating hydrocephalus ORPHA:2268
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity, Short neck ORPHA:98863
Fucosidosis
Scoliosis, Absent/hypoplastic coccyx, Vacuolated lymphocytes, Anterior beaking of lumbar vertebra... OMIM:230000
Myotonia Permanens
Hyperlordosis ORPHA:99735
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity ORPHA:98855
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck ORPHA:171436
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Kyphosis, Spinal canal stenosis, Short neck ORPHA:582
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Short neck, Kyphosis OMIM:314580
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Short neck OMIM:615065
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Kyphosis, Back pain, Lumbar hyperlordosis, Abnormally ossified vertebra... ORPHA:94068
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormality of the vertebral column ORPHA:52430
Otospondylomegaepiphyseal Dysplasia
Platyspondyly, Coronal cleft vertebrae, Abnormal vertebral morphology, Lumbar hyperlordosis, Abno... ORPHA:1427
Satoyoshi Syndrome
Hyperlordosis, Hypoplasia of the ovary, Amenorrhea ORPHA:3130
Desbuquois Dysplasia 1
Scoliosis, Platyspondyly, Hyperlordosis, Kyphosis, Short neck OMIM:251450
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis ORPHA:435387
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Platyspondyly, Irregular vertebral endplates, Abnormal vertebral morphology ORPHA:174
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis OMIM:310200
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity ORPHA:261
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Lumbar hyperlordosis ORPHA:353327
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Abnormality of chromosome stability, Hydrocephalus OMIM:300514
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Hyperlordosis, Spinal canal stenosis, Abnormal vertebral morphology OMIM:616007
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Hyperlordosis ORPHA:3068
Pseudoachondroplasia
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Lumbar hyperlordosis, Atlantoaxi... OMIM:177170
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
Fanconi Anemia, Complementation Group F
Microcephaly, Chromosomal breakage induced by crosslinking agents, Decreased response to growth h... OMIM:603467
Myopathy, Myofibrillar, 7
Scoliosis, Thoracic kyphosis, Lumbar hyperlordosis, Spinal rigidity OMIM:617114
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Butterfly vertebrae OMIM:618870
Lig4 Syndrome
Microcephaly, Abnormality of chromosome stability ORPHA:99812
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Hypoplasia of the corpus call... OMIM:227646
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis OMIM:616482
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Platyspondyly, Beaking of vertebral bodies, Coronal cleft vertebrae OMIM:215150
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:612813
Acromesomelic Dysplasia, Maroteaux Type
Thoracolumbar kyphosis, Beaking of vertebral bodies, Ovoid vertebral bodies, Lumbar hyperlordosis... OMIM:602875
Fanconi Anemia, Complementation Group E
Microcephaly, Chromosomal breakage induced by crosslinking agents OMIM:600901
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Kyphosis, Short neck ORPHA:2789
Cohen Syndrome
Lumbar hyperlordosis, Thoracic scoliosis, Neutropenia, Leukopenia OMIM:216550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis ORPHA:85167
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Abnormal proportion of naive CD4 T cells, Lymphopenia, Ovoid vertebral bodies, Dec... ORPHA:1830
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Fanconi Anemia, Complementation Group A
Microcephaly, Chromosomal breakage induced by crosslinking agents OMIM:227650
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Scoliosis, Lumbar hyperlordosis OMIM:601152
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal form of the vertebral bodies, Kyphosis, Splenom... ORPHA:354
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis ORPHA:169186
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Short neck, Kyphoscoliosis OMIM:114300
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Short neck, Kyphosis ORPHA:1798
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Platyspondyly, Irregular vertebral endplates, Hypoplasia of the odontoid process OMIM:226980
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck OMIM:255800
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia OMIM:184850
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, T lymphocytopenia, Platyspondyly, Autoimmune thrombocytopenia, Lymphopenia, Neutropeni... OMIM:607944
Mucopolysaccharidosis, Type Vi
Ovoid vertebral bodies, Anterior wedging of L2, Lumbar hyperlordosis, Splenomegaly, Anterior wedg... OMIM:253200
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Hyperlordosis ORPHA:77258
Fanconi Anemia, Complementation Group C
Microcephaly, Chromosomal breakage induced by crosslinking agents OMIM:227645
Riddle Syndrome
Microcephaly, Abnormal cerebral white matter morphology, Chromosomal breakage induced by ionizing... ORPHA:420741
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Spinal ca... ORPHA:15
Pure Mitochondrial Myopathy
Scoliosis, Lumbar hyperlordosis ORPHA:254854
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Hyperlordosis, Platyspondyly, Beaking of vertebral bodies, Thoracic platyspondyly, Thoracolumbar ... ORPHA:457395
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Lumbar hyperlordosis OMIM:607778
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Spina bifida occulta ORPHA:2780
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Thoracic kyphosis, Kyphosis, Lumbar hyperl... OMIM:223800
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Hyperlordosis, Spinal rigidity, Splenomegaly OMIM:613327
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosis, Neutropenia, Lumbar interpedicular ... OMIM:271510
3Mc Syndrome
Scoliosis, Hyperlordosis, Caudal appendage, Spina bifida occulta, Prominent coccyx ORPHA:293843
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hyperspl... OMIM:613385
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, T lymphocytopenia, Cervical spinal canal stenosis, Decreased proportion o... ORPHA:508533
Cap Myopathy
Lumbar hyperlordosis, Thoracic scoliosis ORPHA:171881
Cartilage-Hair Hypoplasia
Scoliosis, Hyperlordosis, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Neutr... ORPHA:175
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short neck, HbH hemoglobin, Microcytic anemia ORPHA:98791
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Kyphosis, Streak ovary,... ORPHA:2232
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, H... ORPHA:231222
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Platyspondyly, Kyphoscoliosis OMIM:184253
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, C2-C3 subluxation, Vertebral fusion, Block vertebrae, Short neck, Verte... OMIM:272460
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Hypogonadism ORPHA:3253
Saethre-Chotzen Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:794
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Kyphosis OMIM:162300
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Bethlem Myopathy
Scoliosis, Lumbar hyperlordosis, Spinal rigidity ORPHA:610
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Lumbar hyperlordosis, Lumbar kyphosis, Back pain OMIM:619234
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis ORPHA:370959
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Lumbar hyperlordosis OMIM:212720
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Amenorrhea OMIM:110100
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vertebral bodies ORPHA:2839
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hyperlordosis ORPHA:437572
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis ORPHA:26791
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Ovoid vertebral bodies, Neutropenia, Pancytopenia, Thrombocytopenia,... OMIM:260400
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Microcephaly, Mental deterioration ORPHA:647
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Thoracic kyphosis, Lumbar kyphosis, Thrombocytopenia, Lumbar hyperlordosis, Anemia, L... ORPHA:505248
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Spinal rigidity ORPHA:268
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Abnormal T cell subset distri... ORPHA:221139
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Camurati-Engelmann Disease
Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Kyphosis, Splenomegaly, Anemia, Le... ORPHA:1328
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Kyphosis, Abnormally ossified vertebrae, Spinal rigidity... ORPHA:800
Desbuquois Dysplasia 2
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:615777
Distal Monosomy 10Q
Lumbar hyperlordosis, Spina bifida occulta ORPHA:96148
Alexander Disease
Scoliosis, Hyperlordosis, Short neck, Kyphosis ORPHA:58
Frontorhiny
Scoliosis, Lumbar hyperlordosis ORPHA:391474
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Kyphosis OMIM:617011
Microphthalmia, Lenz Type
Scoliosis, Hyperlordosis, Kyphosis ORPHA:568
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Short neck, HbH hemoglobin OMIM:141750
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Scoliosis, Hyperlordosis OMIM:615356
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Hemivertebrae, HbH hemoglobin, Kyphoscoliosis, Reduced alpha/beta ... OMIM:301040
Fanconi Anemia
Spina bifida, Abnormality of chromosome stability, Azoospermia, Microcephaly, Hydrocephalus ORPHA:84
Weill-Marchesani Syndrome 1
Scoliosis, Lumbar hyperlordosis, Spinal canal stenosis OMIM:277600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Short neck ORPHA:251028
Nail-Patella Syndrome
Scoliosis, Lumbar hyperlordosis, Back pain OMIM:161200
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis ORPHA:1439
Nail-Patella Syndrome
Scoliosis, Spondylolysis, Back pain, Spondylolisthesis, Lumbar hyperlordosis ORPHA:2614
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:258
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Coronal cleft vertebrae, Kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis... OMIM:143095
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Shprintzen Omphalocele Syndrome
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:182210
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female infertility, Male infertility, Primary amenorrhea ORPHA:91
Split Cord Malformation
Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Low back pain, Back pain, Hemivert... ORPHA:573278
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Lumbar hyperlordosis OMIM:250420
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Hyperlordosis, Cervical spinal canal stenosis, Kyphosis, Sacral dimple, Spondylolisthesis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Hyperlordosis, Cervical spinal canal stenosis, Kyphosis, Sacral dimple, Spondylolisthesis ORPHA:363958
Opitz-Kaveggia Syndrome
Lumbar hyperlordosis, Short neck, Sacral dimple OMIM:305450
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Iniencephaly
Hyperlordosis, Absent vertebra ORPHA:63259
Congenital Fiber-Type Disproportion Myopathy
Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:2020
Multiple Endocrine Neoplasia Type 2
Hyperlordosis, Kyphoscoliosis ORPHA:653
Weill-Marchesani Syndrome 2
Scoliosis, Lumbar hyperlordosis, Spinal canal stenosis OMIM:608328
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Streak ovary, Female infertility, Secondary ameno... ORPHA:572333
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Scoliosis, Lumbar hyperlordosis ORPHA:522077
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Sponastrime Dysplasia
Scoliosis, Platyspondyly, Abnormality of the vertebral column, Biconcave vertebral bodies, Neutro... ORPHA:93357
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis ORPHA:261330
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis ORPHA:365
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Anterior wedging of T12, Lumbar hyperlordosis, Anterior wedging of T11, ... OMIM:300106
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Sacral dimple, Lumbar hyperlordosis, Spina bifida occulta, Hori... OMIM:211910
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:457359
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Scoliosis, Lumbar hyperlordosis OMIM:616975
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Kyphosis, Primary amenorrhea, Female infertility, Secondary amenorrhea, Short neck, Pr... ORPHA:99413
Turner Syndrome
Scoliosis, Kyphosis, Primary amenorrhea, Female infertility, Secondary amenorrhea, Short neck, Pr... ORPHA:881
Mosaic Monosomy X
Scoliosis, Kyphosis, Primary amenorrhea, Female infertility, Secondary amenorrhea, Short neck, Pr... ORPHA:99228
Monosomy X
Scoliosis, Kyphosis, Primary amenorrhea, Female infertility, Secondary amenorrhea, Short neck, Pr... ORPHA:99226
Williams Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Kyphosis, Sacral dimple, Spina b... ORPHA:904
Turnpenny-Fry Syndrome
Lumbar hyperlordosis, Thoracic kyphoscoliosis OMIM:618371
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:363700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis ORPHA:73223
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Short neck OMIM:113620
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Hemivertebrae, Kyphoscoliosis ORPHA:500150
Microphthalmia, Syndromic 1
Scoliosis, Lumbar hyperlordosis, Kyphoscoliosis OMIM:309800

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 Mbd1

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 Mbd1.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mbd1em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Mbd1em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)