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Gene: Dscc1 MGI:1919357

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Gene Summary

Name:
DNA replication and sister chromatid cohesion 1
Synonyms:
2600005O03Rik,  2010006I05Rik

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
decreased circulating LDL cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 4.44×10-05
abnormal behavior Dscc1tm1a(KOMP)Wtsi HOM Early adult 0.00
increased lean body mass Dscc1tm1a(KOMP)Wtsi HET Early adult 1.97×10-07
decreased circulating cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 5.56×10-06
increased bone mineral density Dscc1tm1a(KOMP)Wtsi HET Early adult 2.86×10-05
increased blood urea nitrogen level Dscc1tm1a(KOMP)Wtsi HOM Early adult 0.00
vertebral fusion Dscc1tm1a(KOMP)Wtsi HOM   Early adult 1.43×10-05
increased bone mineral content Dscc1tm1a(KOMP)Wtsi HET Early adult 5.61×10-05
decreased circulating HDL cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 6.51×10-05
increased lumbar vertebrae number Dscc1tm1a(KOMP)Wtsi HOM Early adult 3.19×10-05
preweaning lethality, incomplete penetrance Dscc1tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal behavior Dscc1tm1a(KOMP)Wtsi HET Early adult 2.14×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

4 Images

View images
Legacy Phenotype Associated Images
Dscc1tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
forearm, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
HET, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 187 images

Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI

View all 8 images

Dscc1tm1a(KOMP)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
eye, impaired pupillary reflex, abnormal pupil morphology, abnormal placement of pupils, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Dscc1 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 Dscc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert... OMIM:277300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia OMIM:610539
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae, Flexion contracture, T... OMIM:618469
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Hemivertebrae, Super... OMIM:122600
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia OMIM:620085
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... ORPHA:166119
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto... ORPHA:2485
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis ORPHA:564003
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Failure to thrive, H... OMIM:266510
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Pathologic fracture, Hyperkalemia, Osteopetrosis, Cortical sclero... OMIM:620366
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Mueller-Weiss Syndrome
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... ORPHA:566943
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia OMIM:607765
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Intermediate Osteopetrosis
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ... ORPHA:210110
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Thoracolumbar scoliosis, Delayed cranial suture closure, Hemiver... OMIM:113000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Knee flexion contractur... OMIM:178110
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Short neck OMIM:214300
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Kyphosis, Elevated circulating creatine kinase concentration, Elbow ... OMIM:606612
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis OMIM:122860
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... OMIM:618156
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Kyphosis, Elevated circulating creatine kinase concentration, Achill... OMIM:607155
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis ORPHA:313892
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Hemivertebrae, Block vertebrae OMIM:271520
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Patellar dislocation, Hemive... ORPHA:2916
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... ORPHA:93315
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Abnormal vertebral segmentation and f... ORPHA:90650
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, Hemivertebrae, Spin... OMIM:613686
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... OMIM:259700
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Gorlin Syndrome
Vertebral wedging, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:377
Verheij Syndrome
Scoliosis, Hip dislocation, Vertebral fusion, Short neck, Hemivertebrae, Joint laxity OMIM:615583
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... OMIM:312150
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Kniest Dysplasia
Abnormal joint morphology, Anterior vertebral fusion, Cervical spine instability, Short neck, Cor... ORPHA:485
Alkaptonuria
Low back pain, Vertebral fusion, Arthropathy, Limited shoulder movement, Kyphosis, Arthritis, Lim... OMIM:203500
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... OMIM:253290
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Osteoarthritis, Arthritis, Osteomyelitis, Hypocalcemia, Recurrent fra... ORPHA:53
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hyperostosis, Arthritis, Recurrent... ORPHA:1306
Paget Disease Of Bone 5, Juvenile-Onset
Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia... OMIM:239000
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal vertebral segmentation and fusion, Short neck OMIM:118100
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Aarskog-Scott Syndrome
Camptodactyly of finger, Short neck, Genu recurvatum, Abnormal vertebral segmentation and fusion,... ORPHA:915
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short neck, Thoracolumbar scoliosis, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Flexi... OMIM:616549
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Back pain ORPHA:94088
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo... OMIM:614856
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalce... ORPHA:36913
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Fused cervical vertebrae, Hyperlordosis, Short neck ORPHA:2522
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia OMIM:613845
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Scoliosis, Vertebral fusion, Short neck, Carpal synostosis, Block verteb... OMIM:272460
Frontometaphyseal Dysplasia 1
Craniosynostosis, Camptodactyly of finger, Scoliosis, Increased density of long bone diaphyses, W... OMIM:305620
Orthostatic Hypotension 1
Joint hypermobility, Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility ORPHA:628
46,Xy Sex Reversal 4
Distal symphalangism, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Knee osteoarthritis, Stiff knee, Abnormal epiphyseal ossification... ORPHA:93284
Majeed Syndrome
Increased bone mineral density, Cachexia, Failure to thrive, Increased susceptibility to fracture... ORPHA:77297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Decreased body weight, Osteopetrosis OMIM:617306
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Fibrodysplasia Ossificans Progressiva
Scoliosis, Ectopic ossification in tendon tissue, Progressive cervical vertebral spine fusion, Ec... OMIM:135100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... ORPHA:85188
Postaxial Acrofacial Dysostosis
Radioulnar synostosis, Congenital hip dislocation, Supernumerary vertebrae OMIM:263750
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Scoliosis, Neuropathic arthropathy, Elevated circulating creatinin... OMIM:223900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mineral density, ... ORPHA:1782
Ehlers-Danlos Syndrome, Classic-Like, 2
Hip dislocation, Generalized joint laxity, Short neck, Osteoporosis, Osteoarthritis, Shoulder dis... OMIM:618000
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circulating creatine kina... ORPHA:96180
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Larsen Syndrome
Spondylolysis, Tracheomalacia, Scoliosis, Vertebral fusion, Hip dislocation, Multiple carpal ossi... OMIM:150250
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis ORPHA:530983
Lateral Meningocele Syndrome
Scoliosis, Vertebral fusion, Short neck, Kyphosis, Wormian bones, Sclerosis of skull base, Joint ... OMIM:130720
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Osteopenia, Failure to thrive, Flexion contracture, Hypocholesterolemia, Hypoalbumin... OMIM:212065
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Hypercalcemia, Increased blood urea nitrogen, Recurrent fractures ORPHA:251004
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Koolen-De Vries Syndrome
Scoliosis, Hip dislocation, Vertebral fusion, Kyphosis, Joint hyperflexibility, Vertebral segment... ORPHA:96169
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... OMIM:259710
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic seizures, Hyperphosphatemia, I... ORPHA:94089
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Caudal Regression Syndrome
Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fus... ORPHA:3027
Abetalipoproteinemia
Steatorrhea, Decreased LDL cholesterol concentration, Osteopenia, Failure to thrive, Hyperbilirub... ORPHA:14
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Transient hypophosphatemia, Hyperphosp... OMIM:127000
Chromosome 8Q22.1 Duplication Syndrome
Joint stiffness, Genu recurvatum, Cubitus valgus, Interphalangeal joint contracture of finger, Li... OMIM:151200
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Genu varum, Shoulder dislocation, Radioulnar synostosis, Elbow disloca... OMIM:171480
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein co... OMIM:612852
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Intercrural pterygium, Popliteal pterygium, Camptodactyly of toe, Pat... OMIM:265000
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Renal hypophosphate... ORPHA:289176
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
3Q29 Microdeletion Syndrome
Joint hyperflexibility, Six lumbar vertebrae ORPHA:65286
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Mosaic Trisomy 20
Scoliosis, Vertebral fusion, Limited pronation/supination of forearm, Kyphosis, Spinal canal sten... ORPHA:1724
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Alg12-Cdg
Camptodactyly, Failure to thrive, Hypocholesterolemia, Abnormal bone ossification, Hyponatremia, ... ORPHA:79324
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Supernumerary ribs OMIM:193500
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni... OMIM:112250
Koolen-De Vries Syndrome
Scoliosis, Vertebral fusion, Hip dislocation, Prominent metopic ridge, Sacral dimple, Kyphosis, S... OMIM:610443
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Cockayne Syndrome Type 1
Foot joint contracture, Scoliosis, Increased blood urea nitrogen ORPHA:90321
Pycnodysostosis
Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Overweight,... ORPHA:763
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Genu varum, Patellar dislocation, Aplasia/Hypoplasia of the patella, ... ORPHA:3320
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentrati... ORPHA:49041
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Cortical thickening of long ... OMIM:131300
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia ORPHA:77259
Basal Cell Nevus Syndrome 1
Scoliosis, Vertebral fusion, Vertebral wedging, Hemivertebrae, Supernumerary ribs, Irregular ossi... OMIM:109400
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Hyperbilirubinemia, Osteopetrosis, Hypocalcemia, Cranial hyperost... OMIM:259720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Increased skull ossification, Osteopetrosis, H... OMIM:618476
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Abnormal circulating cholesterol concentration, Ar... OMIM:602398
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, Scoliosis, Vertebral fusion, Short neck, Sacral dimple, Hemivertebrae, Beaking ... OMIM:213980
Dysosteosclerosis
Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased susceptib... OMIM:224300
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Short neck, Vertebral arch anomaly, Cervical ribs, Delayed s... OMIM:148050
Werner Syndrome
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness ORPHA:902
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Vertebral fusion, Thoracic hemivertebrae, Short neck, Thoracolumbar scoliosis, Disloca... OMIM:268310
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Supernumerary ribs, Vertebral hypoplasia OMIM:206900
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Scoliosis, Synostosis of carpal bones, C... ORPHA:90652
Shashi-Pena Syndrome
Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation, Cervical C2/C3 vertebral fusion OMIM:617190
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Hypocalcemic seizures, Hyperphosphatemia, H... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Ect... ORPHA:79443
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Failure to thrive ORPHA:35107
X-Linked Hypophosphatemia
Rickets, Generalized osteosclerosis, Reduced bone mineral density, Craniosynostosis, Hypophosphat... ORPHA:89936
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Osteopetrosis ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion OMIM:617796
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Atelosteogenesis, Type I
Short neck, Coronal cleft vertebrae, Neonatal death, Stillbirth, Thoracic platyspondyly, Knee dis... OMIM:108720
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Xanthelasma, Osteomyelitis, Weight loss ORPHA:35687
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta OMIM:619227
Frontometaphyseal Dysplasia
Craniosynostosis, Camptodactyly of finger, Scoliosis, Wrist flexion contracture, Dislocated radia... ORPHA:1826
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Schwartz-Jampel Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Joint stiffness, Flexion cont... ORPHA:800
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Weight loss ORPHA:2905
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... OMIM:259775
Arnold-Chiari Malformation Type I
Stiff neck, Scoliosis, Fused cervical vertebrae, Anteriorly placed odontoid process, Cervical C2/... ORPHA:268882
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Duane Retraction Syndrome
Camptodactyly, Short neck, Abnormal vertebral segmentation and fusion, Spina bifida occulta, Abno... ORPHA:233
Gaucher Disease
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Osteopenia, Recurren... ORPHA:355
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Pathologic fracture OMIM:259900
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero... ORPHA:2658
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Myhre Syndrome
Camptodactyly, Vertebral fusion, Joint stiffness, Short neck, Platyspondyly, Limitation of joint ... OMIM:139210
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Trichothiodystrophy
Craniosynostosis, Increased bone mineral density, Multiple joint contractures, Osteopenia ORPHA:33364
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Hemivertebrae, Supernumerary ribs, Block vertebrae OMIM:304050
Thakker-Donnai Syndrome
Hemivertebrae, Cervical C2/C3 vertebral fusion, Short neck ORPHA:1780
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Vertebral fusion, Hyperextensible hand joints OMIM:227330
Aicardi Syndrome
Scoliosis, Block vertebrae, Supernumerary ribs, Butterfly vertebrae ORPHA:50
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... ORPHA:79474
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Scoliosis, Vertebral fusion, Congenital hip dislocation, Short neck, Acc... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic hemivertebrae, Hip dislocation, Cervical hemivertebrae, Thoracic kyphosis, Short neck, G... ORPHA:508498
Apert Syndrome
Craniosynostosis, Coronal craniosynostosis, Synostosis of carpal bones, Delayed cranial suture cl... OMIM:101200
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Failure to thrive, Epiphyseal stippling, Hypocholesterolemia, Hypo... OMIM:270400
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Scoliosis, Spina bifida occulta, Shoulder dislocation OMIM:607323
Primary Hyperoxaluria
Hyperoxaluria, Generalized osteosclerosis, Recurrent fractures, Failure to thrive ORPHA:416
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Wolf-Hirschhorn Syndrome
Scoliosis, Vertebral fusion, Hip dislocation, Sacral dimple, Kyphosis, Radioulnar synostosis, Abn... OMIM:194190
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Six lumbar vertebrae, Metopic synostosis, Accelerated skeletal maturation, Two carpal ... OMIM:312870
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Hemivertebrae, Radioulnar dislocation, Kyphoscoliosis ORPHA:97360
Frontometaphyseal Dysplasia 2
Camptodactyly, Scoliosis, Congenital hip dislocation, Dislocated radial head, Elbow contracture, ... OMIM:617137
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Herniation of intervertebral nuclei, Scoliosis, Carpal synostosis,... OMIM:157800
Thrombocytopenia-Absent Radius Syndrome
Patellar aplasia, Hip dislocation, Genu varum, Patellar dislocation, Carpal synostosis, Carpal bo... OMIM:274000
Cleidocranial Dysplasia 1
Increased bone mineral density, Increased susceptibility to fractures, Delayed pubic bone ossific... OMIM:119600
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Hypophosphatemia, Osteopetrosis, Hypocalcemia, Re... ORPHA:667
Williams Syndrome
Increased bone mineral density, Abnormal circulating lipid concentration, Joint stiffness, Osteop... ORPHA:904
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Failure to thrive, Osteopetrosis, Hypocalcemi... ORPHA:2785
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Hip dislocation, Short neck, Sacral dimple, Cervical C5/C6 vertebrae fusion, Trach... OMIM:613458
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Cleft vertebral arch, Contracture of the dist... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Wormian bones, Hip subluxation, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:444077
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Thickened cortex of long bones, Sclerosis of skull base, Failure... OMIM:269150
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormality of the knee, Abnormal hip joint morpholog... ORPHA:51608
Craniofacial Microsomia
Scoliosis, Hemivertebrae, Genu valgum, Vertebral hypoplasia, Cervical ribs, Block vertebrae OMIM:164210
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380

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 Dscc1

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 Dscc1.

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) Dscc1tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dscc1tm1a(KOMP)Wtsi Dscc1tm1a(KOMP)Wtsi