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Gene: Mbd1 MGI:1333811

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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
increased mean corpuscular hemoglobin Mbd1em1(IMPC)Wtsi HOM   Early adult 1.79×10-05

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Viewing: all phenotypes

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 Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Mbd1em1(IMPC)Wtsi
HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
HOM, Male, WTSI

View all 70 images

Mbd1em1(IMPC)Wtsi
mydriasis, HOM, Female, WTSI
Mbd1em1(IMPC)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Mbd1em1(IMPC)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI

View all 9 images

Mbd1em1(IMPC)Wtsi
abnormal tail tip morphology, abnormal tail morphology, HOM, Female, WTSI
Mbd1em1(IMPC)Wtsi
abnormal tail tip morphology, abnormal tail morphology, short tail, HOM, Female, WTSI
Mbd1em1(IMPC)Wtsi
abnormal tail tip morphology, abnormal tail morphology, short tail, HOM, Female, WTSI
Mbd1em1(IMPC)Wtsi
short snout, head, abnormal snout morphology, HOM, Female, WTSI
Mbd1em1(IMPC)Wtsi
abnormal coat/hair pigmentation, HOM, Female, WTSI

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
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... ORPHA:3319
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
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
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Lumbar hyperlordosis OMIM:253320
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... OMIM:609223
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Lumbar hyperlordosis, Spinal rigidity OMIM:255600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
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
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Spinal rigidity, Hyperlordosis OMIM:617404
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis OMIM:611067
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Rigid Spine Syndrome
Scoliosis, Spinal rigidity, Hyperlordosis ORPHA:97244
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Kyphoscoliosis, Scoliosis, Hyperlordosis, Abnormal vertebral morph... OMIM:618363
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis ORPHA:62
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... OMIM:184100
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Hypochondroplasia
Spinal canal stenosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... ORPHA:1797
Anauxetic Dysplasia 2
Short neck, Cervical spine instability, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ovoid verteb... OMIM:617396
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis ORPHA:206546
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Diastrophic Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Cervical kyphosis, Hypoplastic cervical vertebrae OMIM:222600
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, Lumbar hyperlordosis OMIM:610313
N Syndrome
Abnormality of chromosome stability OMIM:310465
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... OMIM:256050
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:262
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis ORPHA:352470
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Immunodeficiency 54
Chromosome breakage OMIM:609981
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... ORPHA:99642
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Achondroplasia
Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosis, Lumbar kyphosis in in... OMIM:100800
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis OMIM:610687
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Kyphosis, Secondary amenorrhea, Hyperlordosis ORPHA:3085
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis ORPHA:267
Nemaline Myopathy 3
Scoliosis, Spinal rigidity, Hyperlordosis OMIM:161800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hyperlordosis ORPHA:1192
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Splenomegaly, Short neck, Platysp... OMIM:602557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis OMIM:160500
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis OMIM:615761
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordos... ORPHA:1159
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis ORPHA:1387
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Hepatosplenomegaly, Short ne... ORPHA:93352
Nemaline Myopathy 2
Scoliosis, Spinal rigidity, Hyperlordosis OMIM:256030
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Ataxia-Telangiectasia
Abnormality of chromosome stability, Cognitive impairment ORPHA:100
Multiple Metaphyseal Dysplasia
Hyperlordosis ORPHA:93430
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Colpocephaly, Agenesis of corpus callosum OMIM:609053
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, ... OMIM:609616
Thoracomelic Dysplasia
Short neck, Hyperlordosis ORPHA:1803
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Scoliosis, Premature ovarian insufficiency OMIM:619518
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Ck Syndrome
Kyphoscoliosis, Lumbar hyperlordosis ORPHA:251383
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion ORPHA:313892
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Platyspondyly, Hypoplastic sacrum OMIM:271650
Pseudoachondroplasia
Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Abnormal form of the... ORPHA:750
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short neck, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:3218
Mucopolysaccharidosis, Type Iva
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Hyperlordos... OMIM:253000
Spondyloepiphyseal Dysplasia Tarda
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphoscoliosis... ORPHA:93284
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis ORPHA:369840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Increased vertebral height, Kyphoscoliosis, Hyperlordosis OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis OMIM:613156
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, Lumbar hyperlordosis OMIM:619467
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology ORPHA:353
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:619451
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:607155
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain OMIM:167320
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Cervical subluxation, ... OMIM:253010
King-Denborough Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Short neck, Scoliosis, Thoracic kyphosis OMIM:619542
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Thoracic kyphosis, Thoracolumba... ORPHA:3041
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Microcytic anemia, Anemia, Thro... ORPHA:848
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordosis, Posterior scalloping of ver... OMIM:619698
Three M Syndrome 3
Increased vertebral height, Short neck, Hyperlordosis OMIM:614205
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... ORPHA:93314
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis OMIM:156500
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:86812
3M Syndrome
Kyphosis, Increased vertebral height, Short neck, Scoliosis, Hyperlordosis, Decreased fertility ORPHA:2616
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis OMIM:253700
Myopathy, Congenital, With Fiber-Type Disproportion
Lumbar hyperlordosis, Scoliosis OMIM:255310
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Lumbar hyperlordosis, Vertebral fusion, Biconvex vertebral bodies, Platyspondyly, Short neck, Bic... ORPHA:93315
Fanconi Anemia, Complementation Group L
Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Chromosome breakage OMIM:614083
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Dyggve-Melchior-Clausen Syndrome, X-Linked
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Thoracic kyphosis OMIM:304950
Icf Syndrome
Abnormality of chromosome stability, Communicating hydrocephalus ORPHA:2268
Three M Syndrome 1
Increased vertebral height, Short neck, Spina bifida occulta, Hyperlordosis OMIM:273750
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the ovary, Hyperlordosis ORPHA:3130
Oculocerebrodental Syndrome
Thoracic kyphosis, Scoliosis, Hyperlordosis ORPHA:557003
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis ORPHA:171436
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis ORPHA:582
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... ORPHA:261529
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Lymphopenia, Neutropenia, Platyspondyly, Short neck, Thrombocytopenia, Thor... OMIM:242900
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies OMIM:608728
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis ORPHA:98863
Arthrogryposis, Distal, Type 5D
Short neck, Scoliosis, Hyperlordosis OMIM:615065
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... OMIM:183900
Myotonia Permanens
Hyperlordosis ORPHA:99735
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis ORPHA:98855
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Lymphopenia, Narrow vertebral interpedicular distance, Congenital hypoplast... OMIM:250250
Braddock-Carey Syndrome 1
Thrombocytopenia, Hyperlordosis OMIM:619980
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis ORPHA:435387
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Abnormal vertebral morphology ORPHA:174
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis OMIM:618870
Desbuquois Dysplasia 1
Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis OMIM:251450
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Back pain, Spina bifida occulta OMIM:169550
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly OMIM:616482
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis, Coronal cleft vertebr... OMIM:255800
Otospondylomegaepiphyseal Dysplasia
Lumbar hyperlordosis, Abnormally ossified vertebrae, Platyspondyly, Short neck, Abnormal vertebra... ORPHA:1427
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... ORPHA:94068
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Hyperlordosis ORPHA:52430
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Scoliosis ORPHA:353327
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis ORPHA:261
Bloom Syndrome
Azoospermia, Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis OMIM:615980
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Hyperlordosis ORPHA:3068
Three M Syndrome 2
Lumbar hyperlordosis, Short neck, Hyperlordosis OMIM:612921
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Fucosidosis
Lumbar hyperlordosis, Vacuolated lymphocytes, Splenomegaly, Anterior beaking of lumbar vertebrae,... OMIM:230000
Myopathy, Myofibrillar, 7
Thoracic kyphosis, Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:617114
Pseudoachondroplasia
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspond... OMIM:177170
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Fanconi Anemia, Complementation Group B
Hydrocephalus, Abnormality of chromosome stability OMIM:300514
Acromesomelic Dysplasia 1
Beaking of vertebral bodies, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Lowe... OMIM:602875
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspondyly, Short neck, Thoracic kyphosis, Cer... OMIM:607095
Cohen Syndrome
Thoracic scoliosis, Leukopenia, Lumbar hyperlordosis, Neutropenia OMIM:216550
Gm1 Gangliosidosis
Kyphosis, Splenomegaly, Hepatosplenomegaly, Platyspondyly, Scoliosis, Abnormal form of the verteb... ORPHA:354
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis OMIM:618443
Lateral Meningocele Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2789
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Arthrogryposis, Distal, Type 3
Thoracolumbar scoliosis, Lumbar hyperlordosis, Short neck, Kyphoscoliosis OMIM:114300
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Lymphopenia, Platyspondyly, Short neck, Abnormal proportion of naive CD4 T ... ORPHA:1830
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Agenesis of corpus callosum OMIM:227646
Pfeiffer Syndrome
Short neck, Hyperlordosis ORPHA:710
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis ORPHA:169186
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Achondroplasia
Spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Cervical spinal canal stenosis, Thoracolum... ORPHA:15
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short neck, Lumbar hyperlordosis ORPHA:171866
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis OMIM:300986
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Lymphopenia, Increased inter... OMIM:607944
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis OMIM:310200
Meningioma
Hydrocephalus, Cognitive impairment, Memory impairment, Chromosomal breakage induced by ionizing ... ORPHA:2495
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis OMIM:226980
Stiff-Person Syndrome
Anemia, Lumbar hyperlordosis OMIM:184850
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Platyspondyly, Hyposegmentation of neutrophil nuclei, Hyperlordosis, Thoracolumbar scol... OMIM:618019
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Lumbar hyperlordosis, Splenomegaly, Thoracic kyphoscoliosis, Pancytop... OMIM:613385
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Hyperlordosis ORPHA:77258
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Spinal canal stenosis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Coronal cleft ve... OMIM:616007
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents OMIM:600901
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
3Mc Syndrome
Scoliosis, Spina bifida occulta, Hyperlordosis, Caudal appendage, Prominent coccyx ORPHA:293843
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis ORPHA:171881
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:607778
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosi... OMIM:271510
Pycnodysostosis
Kyphosis, Spondylolisthesis, Spondylolysis, Hepatosplenomegaly, Scoliosis, Hyperlordosis ORPHA:763
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents OMIM:227650
Joubert Syndrome 37
Lumbar hyperlordosis OMIM:619185
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Short neck, Hyperlordosis, Thoracolum... ORPHA:457395
Revesz Syndrome
Abnormality of chromosome stability, Progressive neurologic deterioration OMIM:268130
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Spina bifida occulta, Hyperlordosis ORPHA:2780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Lymphopenia, Increased intervertebral space, Cervical instability... ORPHA:508533
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Short neck, Scoliosis, Abnormal form of... ORPHA:175
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... OMIM:223800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Short neck, Microcytic anemia ORPHA:98791
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents OMIM:227645
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Kyphoscoliosis, Lumbar hyperlordosis OMIM:184253
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, C2-C3 subluxation, Short neck, Scoliosis, Hypoplasia of the odonto... OMIM:272460
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Scoliosis, Spinal rigidity, Hyperlordosis OMIM:613327
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Kyphosis, Impotence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonad... ORPHA:2232
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hyperlordosis ORPHA:437572
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Thoracic scoliosis, Lumbar hyperlordosis, Platyspondyly, Thoracic pl... OMIM:619636
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia ORPHA:244
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Hypogonadism ORPHA:3253
Bethlem Myopathy
Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:610
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Lumbar hyperlordosis, Back pain, Lumbar kyphosis OMIM:619234
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis ORPHA:370959
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Camurati-Engelmann Disease
Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral column, Scoliosis, Hyperlordosis... ORPHA:1328
Pelvis-Shoulder Dysplasia
Prominent protruding coccyx, Lumbar hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2839
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis ORPHA:26791
Shwachman-Diamond Syndrome 1
Neutropenia, Persistence of hemoglobin F, Ovoid vertebral bodies, Pancytopenia, Anemia, Thrombocy... OMIM:260400
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, B lymphocytopenia, Hyperlordosis, Decreased proportion of CD... ORPHA:221139
Martsolf Syndrome 1
Thoracic scoliosis, Hypogonadotropic hypogonadism, Lumbar hyperlordosis OMIM:212720
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Hyperlordosis ORPHA:268
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Lumbar hyperlordosis, Splenomegaly, Ovoid vertebral bodies, Anterior wedging of L... OMIM:253200
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Hepatosplenomegaly, Short neck, Leukopenia, Thoracic kyphosis, Anemia, Thro... ORPHA:505248
Schwartz-Jampel Syndrome
Kyphosis, Spinal rigidity, Abnormally straight spine, Abnormally ossified vertebrae, Short neck, ... ORPHA:800
Alexander Disease
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:58
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Scoliosis, Hypochrom... OMIM:301040
Distal Monosomy 10Q
Lumbar hyperlordosis, Spina bifida occulta ORPHA:96148
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Short neck, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Frontorhiny
Lumbar hyperlordosis, Scoliosis ORPHA:391474
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of chromosome stability ORPHA:647
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Scoliosis, Hyperlordosis OMIM:615356
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Short neck ORPHA:251028
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Lumbar hyperlordosis, Scoliosis OMIM:277600
Nail-Patella Syndrome
Lumbar hyperlordosis, Back pain, Scoliosis OMIM:161200
Split Cord Malformation
Kyphoscoliosis, Butterfly vertebrae, Back pain, Hemivertebrae, Abnormality of the vertebral colum... ORPHA:573278
Nail-Patella Syndrome
Lumbar hyperlordosis, Spondylolisthesis, Back pain, Spondylolysis, Scoliosis ORPHA:2614
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:258
Fanconi Anemia
Azoospermia, Hydrocephalus, Spina bifida, Abnormality of chromosome stability ORPHA:84
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis ORPHA:1439
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Short ne... ORPHA:124
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Irregular vertebral endplates, Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Narrow vertebral i... OMIM:143095
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female infertility, Primary amenorrhea, Male infertility ORPHA:91
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Hyperlordosis OMIM:301066
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis ORPHA:261330
Opitz-Kaveggia Syndrome
Lumbar hyperlordosis, Short neck, Sacral dimple OMIM:305450
Koolen-De Vries Syndrome Due To A Point Mutation
Kyphosis, Spondylolisthesis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Sacral dimple ORPHA:363965
17Q21.31 Microdeletion Syndrome
Kyphosis, Spondylolisthesis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Sacral dimple ORPHA:363958
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:2020
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Short neck, Scoliosis, Sacral dimple, Hyperlordosis OMIM:619950
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Scoliosis ORPHA:522077
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Oligomenorrhea, Secondary ameno... ORPHA:572333
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Lumbar hyperlordosis, Scoliosis OMIM:608328
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis ORPHA:365
Sponastrime Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Abnormality of the vertebral column, Platyspondyly, Biconca... ORPHA:93357
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Hyperlordosis ORPHA:653
Camptodactyly Syndrome, Guadalajara, Type I
Lumbar hyperlordosis, Horizontal sacrum, Spina bifida occulta, Sacral dimple, Hypoplastic 5th lum... OMIM:211910
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis ORPHA:457359
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Lumbar hyperlordosis, Anterior wedging of T11, Platyspondyly, Hypoplasia of the odontoi... OMIM:300106
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Scoliosis OMIM:616975
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... ORPHA:99413
Turner Syndrome
Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... ORPHA:881
Mosaic Monosomy X
Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... ORPHA:99228
Monosomy X
Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... ORPHA:99226
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Williams Syndrome
Vertebral segmentation defect, Kyphosis, Functional abnormality of male internal genitalia, Hypog... ORPHA:904
Turnpenny-Fry Syndrome
Lumbar hyperlordosis, Thoracic kyphoscoliosis OMIM:618371
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:363700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hyperlordosis, Hemolytic anemia, Thoracolumbar scoliosis, Sacral dimple OMIM:619503
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis ORPHA:73223
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hemivertebrae, Kyphoscoliosis, Lumbar hyperlordosis ORPHA:500150
Branchiooculofacial Syndrome
Kyphosis, Short neck, Hyperlordosis OMIM:113620
Microphthalmia, Syndromic 1
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis 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