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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
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

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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 Whole Body Lateral Orientation

13 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 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
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb... ORPHA:3319
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity OMIM:255600
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Scoliosis, Hyperlordosis ORPHA:408
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Rigid Spine Syndrome
Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis ORPHA:62
N Syndrome
Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea 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
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Attention deficit hyperactivity disorder ORPHA:908
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae OMIM:222600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Secondary amenorrhea, De... ORPHA:3085
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis ORPHA:206546
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis ORPHA:352470
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Anemia, Hyperlordosis ORPHA:1192
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Immunodeficiency 54
Chromosome breakage OMIM:609981
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis OMIM:620389
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Scoliosis, Hyperlordosis OMIM:161800
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis ORPHA:267
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis ORPHA:1387
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Cognitive impairment ORPHA:100
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis OMIM:160500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis OMIM:618363
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Anemia, Complementation Group R
Hydrocephalus, Chromosomal breakage induced by crosslinking agents OMIM:617244
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... ORPHA:93352
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Scoliosis OMIM:619518
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ... OMIM:600462
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral compression f... OMIM:602557
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Chromosomal breakage induced by crosslinking agents OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... OMIM:619542
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Abnormal vertebral mor... OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Scoliosis, Hyperlordosis OMIM:613156
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Nemaline Myopathy 2
Spinal rigidity, Scoliosis, Hyperlordosis OMIM:256030
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Abnormal macrophage morphology, Scoliosis ORPHA:353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis OMIM:615156
Fanconi Anemia, Complementation Group L
Chromosome breakage, Hydrocephalus, Chromosomal breakage induced by crosslinking agents, Attentio... OMIM:614083
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis OMIM:167320
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac... ORPHA:3041
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:86812
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Three M Syndrome 3
Increased vertebral height, Hyperlordosis, Short neck OMIM:614205
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Scoliosis OMIM:255310
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... OMIM:619698
Three M Syndrome 1
Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreased testicular... OMIM:273750
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thro... ORPHA:848
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility, Scoliosis ORPHA:2616
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis OMIM:253700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Icf Syndrome
Communicating hydrocephalus, Abnormality of chromosome stability ORPHA:2268
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,... OMIM:242900
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... OMIM:255800
Satoyoshi Syndrome
Hypoplasia of the ovary, Amenorrhea, Hyperlordosis ORPHA:3130
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Deficient excision of UV... OMIM:227646
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:613951
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis OMIM:114300
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Oculoskeletodental Syndrome
Thoracic kyphosis, Scoliosis, Hyperlordosis ORPHA:557003
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Myotonia Permanens
Hyperlordosis ORPHA:99735
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Bone Marrow Failure Syndrome 3
Chromosome breakage, Cryptorchidism OMIM:617052
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Cryptorchidism OMIM:210900
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis OMIM:618870
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis ORPHA:435387
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Braddock-Carey Syndrome 1
Thrombocytopenia, Hyperlordosis OMIM:619980
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos... OMIM:250250
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
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
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... ORPHA:2789
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia OMIM:184850
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis OMIM:615980
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Thoracic kyphosis, Scoliosis, Spinal rigidity OMIM:617114
Congenital Myopathy 10B, Mild Variant
Scoliosis, Hyperlordosis OMIM:620249
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:600901
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Hyperlordosis ORPHA:3068
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hydrocephalus OMIM:300514
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:227650
Joubert Syndrome 37
Cryptorchidism, Lumbar hyperlordosis, Decreased testicular size OMIM:619185
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... OMIM:617796
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Splenomegaly, Anterior beak... OMIM:230000
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Atlanto... OMIM:607095
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Gm1 Gangliosidosis
Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... ORPHA:354
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
3Mc Syndrome
Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, Spina bifida occulta, Cauda... ORPHA:293843
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis ORPHA:169186
Cohen Syndrome
Leukopenia, Thoracic scoliosis, Lumbar hyperlordosis, Neutropenia OMIM:216550
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability ORPHA:99812
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:603467
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Scoliosis, Short neck OMIM:615065
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis OMIM:300986
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... OMIM:227645
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis OMIM:310200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... OMIM:607944
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Short neck, Microcytic anemia ORPHA:98791
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis ORPHA:369840
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis OMIM:226980
Meningioma
Hydrocephalus, Transient global amnesia, Chromosomal breakage induced by ionizing radiation, Cogn... ORPHA:2495
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis ORPHA:171881
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hypersplenism, Splenomegaly, Increas... OMIM:613385
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Hypoplasia of the odontoid process, Spinal canal stenosis, Coronal cleft vertebrae... OMIM:616007
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve... OMIM:271510
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pycnodysostosis
Hyperlordosis, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Microphthalmia, Lenz Type
Cryptorchidism, Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Decreased proportion of CD8-... ORPHA:508533
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Irregular menstruation OMIM:616482
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Revesz Syndrome
Abnormality of chromosome stability, Progressive neurologic deterioration OMIM:268130
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Short neck, Hyperlordosi... ORPHA:175
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... OMIM:272460
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae OMIM:617101
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:613327
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
Saethre-Chotzen Syndrome
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... OMIM:619636
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Hyperlordosis ORPHA:3253
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Lumbar kyphosis OMIM:619234
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis ORPHA:2848
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Lumbar hyperlordosis OMIM:602471
Bethlem Myopathy
Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:610
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis ORPHA:370959
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vertebral bodies ORPHA:2839
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis ORPHA:26791
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Imbalanced hemoglobin synthesis, Abn... ORPHA:330015
Camurati-Engelmann Disease
Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral column, Hypogonad... ORPHA:1328
Martsolf Syndrome 1
Cryptorchidism, Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism OMIM:212720
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... ORPHA:800
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Lumbar hyperlordosis, Short neck OMIM:609625
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Persistence of hemoglobin F, Anemia... OMIM:260400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD... ORPHA:221139
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypo... OMIM:301040
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Hyperlordosis ORPHA:268
Alexander Disease
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:58
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Hepatosplenomegaly, Anemia, Leukopenia, Lumbar kyphosis, Thorac... ORPHA:505248
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Splenomegal... OMIM:253200
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of chromosome stability, Attention deficit hyperactivity disorder ORPHA:647
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Ring Chromosome 12 Syndrome
Cryptorchidism, Lumbar hyperlordosis ORPHA:1439
Frontorhiny
Lumbar hyperlordosis, Scoliosis ORPHA:391474
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Lumbar hyperlordosis, Decreased testicular size, Short neck ORPHA:251028
Distal Deletion 10Q
Lumbar hyperlordosis, Spina bifida occulta ORPHA:96148
Hallermann-Streiff Syndrome
Cryptorchidism, Scoliosis, Hyperlordosis OMIM:234100
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Scoliosis, Hyperlordosis OMIM:615356
Fanconi Anemia
Abnormality of chromosome stability, Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Ab... ORPHA:84
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Short neck, Reticulocytopenia, Hypoplastic sacr... OMIM:105650
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:277600
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Scoliosis OMIM:161200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:258
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:2614
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Scoliosis, Spondylol... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Scoliosis, Spondylol... ORPHA:363958
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Reticulocytopeni... ORPHA:124
Opitz-Kaveggia Syndrome
Cryptorchidism, Sacral dimple, Lumbar hyperlordosis, Short neck OMIM:305450
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Hepatosplenomegaly OMIM:301066
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Macroorchidism OMIM:619950
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis ORPHA:261330
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:2020
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Scoliosis, Hyperlordosis OMIM:615873
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Scoliosis ORPHA:522077
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:608328
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis ORPHA:365
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Lumbar hyperlordosis, Scoliosis OMIM:616975
Sponastrime Dysplasia
Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm... ORPHA:93357
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Hyperlordosis ORPHA:653
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Abnormal hemoglobin, Anemia ORPHA:847
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Secondary amenorrhea, ... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Secondary amenorrhea, ... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Secondary amenorrhea, ... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Secondary amenorrhea, ... ORPHA:99226
Williams Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Hyperlordosis, Kyphosis, Cryptorchidism, Abnormal f... ORPHA:904
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Sacral dimple, Thoracolumbar scoliosis, Hyperlordosis, Cryptorchidism, Hepatosp... OMIM:619503
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:363700
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis OMIM:618371
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis ORPHA:73223
Branchiooculofacial Syndrome
Cryptorchidism, Hyperlordosis, Kyphosis, Short neck OMIM:113620
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Hemivertebrae, Kyphoscoliosis ORPHA:500150
Microphthalmia, Syndromic 1
Cryptorchidism, 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