Gene Summary

Name:
ring finger protein 14
Synonyms:
Triad2,  2610005D23Rik,  2310075C09Rik,  D18Ertd188e,  D7Bwg0165e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00
decreased heart weight Rnf14em1(IMPC)Ccpcz HOM Early adult 5.21×10-07
lordosis Rnf14em1(IMPC)Ccpcz HOM   Early adult 1.49×10-06
decreased CD8-positive, naive alpha-beta T cell number Rnf14em1(IMPC)Ccpcz HOM   Early adult 6.70×10-05
increased circulating HDL cholesterol level Rnf14em1(IMPC)Ccpcz HOM Early adult 4.09×10-06
abnormal skin morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Human diseases caused by Rnf14 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 Rnf14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Dilated cardiomyopathy, Kyphosis, Spinal rigidity, Elevated circulating... OMIM:300718
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Myosclerosis, Autosomal Recessive
Elevated circulating creatine kinase concentration, Thoracolumbar scoliosis, Lumbar hyperlordosis... OMIM:255600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Atlantoaxial dislo... OMIM:600561
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Cardiomyopathy, Spinal ... OMIM:609308
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Tetralogy of Fallot, Hypoplasia of th... ORPHA:93315
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Neuronopathy, Distal Hereditary Motor, Type Viii
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Hyperlordosis, Back pain OMIM:618129
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis ORPHA:408
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis ORPHA:280333
Myasthenic Syndrome, Congenital, 14
Scoliosis, Mildly elevated creatine kinase, Hyperlordosis OMIM:616228
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis OMIM:602484
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Elevated circulating creatine kinase concentration, Hyperlordosis, Thoracic scoliosis ORPHA:62
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis OMIM:607088
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Hypertrophic cardio... ORPHA:262
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Mucolipidosis Type Iii
Hyperlordosis, Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form o... ORPHA:577
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis OMIM:611067
Myopathy, Congenital, With Tremor
Scoliosis, Lumbar hyperlordosis, Spinal rigidity OMIM:618524
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:613157
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis OMIM:613818
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis OMIM:619042
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... OMIM:618363
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Right ventricular hypertrophy, Elevated circulating creatine kinase con... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis OMIM:613723
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Hyperlordosis ORPHA:352470
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Nemaline Myopathy 3
Scoliosis, Hyperlordosis, Mildly elevated creatine kinase, Spinal rigidity, Dilated cardiomyopathy OMIM:161800
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Kyphosis, Increased serum beta-hexosaminidase, Aortic valve stenosis, S... OMIM:252605
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Abnormal mitral valve morphology, Nephropathy, Anemia, Nephrotic syndrome, Protein... ORPHA:1192
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:611588
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis OMIM:615290
Hypochondroplasia
Scoliosis, Hyperlordosis, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:429
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Abnormality of the ureter, Hypospadias, Short neck, Fused cervical verte... ORPHA:2522
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity ORPHA:267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Left ventricular hypertrophy, Elevated circulating creatine kinase conc... OMIM:613156
Anauxetic Dysplasia 2
Hyperlordosis, Ovoid vertebral bodies, Cervical spine instability, Thoracolumbar kyphoscoliosis, ... OMIM:617396
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... OMIM:184100
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Cervical kyphosis, Incre... OMIM:256050
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Spina bifida occulta, Short neck, Vertebral segmentation defect, Abnorm... ORPHA:1797
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Achondroplasia
Lumbar hyperlordosis, Spinal stenosis with reduced interpedicular distance, Lumbar kyphosis in in... OMIM:100800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion, Elevated circulating creatine kinase concen... OMIM:606612
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, Abnormal macrophage morphology, Lumbar hyperlordosis, Right ventricular hypertrophy, E... ORPHA:353
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, Horseshoe kidney OMIM:617352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Dilated cardiomyopathy, Kyphosis, Vertebral fusion, Elevated circulatin... OMIM:607155
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Kyphosis, Sacral dimple, Hypospadias OMIM:615761
Nemaline Myopathy 2
Scoliosis, Mildly elevated creatine kinase, Hyperlordosis, Spinal rigidity OMIM:256030
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:269
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Abnormality of the inte... ORPHA:99642
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Spinal rigidity ORPHA:157973
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, T... OMIM:264180
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Elevated circulat... ORPHA:86812
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Schimke Immunoosseous Dysplasia
Platyspondyly, Focal segmental glomerulosclerosis, Thoracic kyphosis, Ovoid vertebral bodies, Lym... OMIM:242900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Scoliosis, Dilated cardiomyopathy, Kyphosis, Back pain, Hypertriglyceridemia, Spin... ORPHA:98855
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Hypertriglyceridemia, Spinal rigidity, Elevated ci... ORPHA:98863
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Hyperlordosis ORPHA:369840
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Scoliosis, Dilated cardiomyopathy, Kyphosis, Back pain, Hypertriglyceridemia, Spin... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Scoliosis, Dilated cardiomyopathy, Kyphosis, Back pain, Hypertriglyceridemia, Spin... ORPHA:261
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:310200
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Oculocerebrodental Syndrome
Scoliosis, Hypocalcemia, Hyperlordosis, Thoracic kyphosis, Hypercalcemia, Nephrocalcinosis ORPHA:557003
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Abnormal heart valve morphology, Chondroitin sulfate exc... OMIM:253000
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow v... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Mildly elevated creatine kinase, Kyphosis, Kyphoscoliosis ORPHA:536516
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Urinary bladder sphincter dysfunction, Abnormality of the vertebral column, Elevat... ORPHA:52430
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Multiple Metaphyseal Dysplasia
Hyperlordosis ORPHA:93430
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Abnormal vertebral morphology, Renal hypoplasia, Kypho... OMIM:616817
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Hyperlordosis, Platyspondyly, Beaking of vertebral b... ORPHA:1159
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central an... OMIM:313400
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Fucosidosis
Scoliosis, Absent/hypoplastic coccyx, Vacuolated lymphocytes, Oligosacchariduria, Lumbar hyperlor... OMIM:230000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis ORPHA:3085
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Keratan sulfate excret... OMIM:253010
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Focal segmental glomerulosclerosis, Abnormal proportion of naive CD4 T cells, Ovoi... ORPHA:1830
Pseudoachondroplasia
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Cer... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Central vertebral hypopla... ORPHA:93352
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis OMIM:300986
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Lumbar hype... OMIM:609616
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Abnormal heart valve morphology, Mucopolysacchariduria, ... ORPHA:582
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosis, Back pain, Lumbar hyperl... ORPHA:93284
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Lumbar hyperlordosis, Dilated cardiomyopathy OMIM:255310
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:616730
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracic kyphosis, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyp... ORPHA:3041
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Back pain OMIM:167320
Temple Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2831
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hyperlordosis, Lacticaciduria, Abnormal heart morphology, Glutaric ac... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Myopathy, Myofibrillar, 7
Scoliosis, Thoracic kyphosis, Lumbar hyperlordosis, Urinary incontinence, Spinal rigidity, Enures... OMIM:617114
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Lumbar hyperlordosis OMIM:271650
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Elevated circulating creatine kinase concent... ORPHA:171436
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis ORPHA:435387
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Ventricular septal defect, Focal segmental glomerulosclerosis, Nephrotic sy... OMIM:618348
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Anem... ORPHA:763
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Abnormal heart valve morphology, Left ventricular hypertrophy ORPHA:169186
Cartilage-Hair Hypoplasia
Scoliosis, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Congenital hy... OMIM:250250
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Hyperlordosis, Atrial septal defect, Coronal cleft vertebrae, Ventricular septal defec... OMIM:618870
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Pollakisuria, Spinal rigidity, Right ventricular hypertrophy, Cardiomegaly, Elevat... ORPHA:268
Three M Syndrome 1
Hyperlordosis, Increased vertebral height, Spina bifida occulta, Hypospadias, Short neck OMIM:273750
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Renovascular hypertension, Cervical kyphosis, Bicuspid aortic valve, Dilate... ORPHA:401923
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies OMIM:608728
Congenital Myasthenic Syndromes With Glycosylation Defect
Elevated circulating creatine kinase concentration, Scoliosis, Lumbar hyperlordosis ORPHA:353327
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis, Bladder diverticulum OMIM:617821
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:181393
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Vertebral segmentation defect ORPHA:1323
Cohen Syndrome
Neutropenia, Lumbar hyperlordosis, Leukopenia, Mitral valve prolapse, Thoracic scoliosis OMIM:216550
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Short neck, Kyphosis OMIM:314580
Three M Syndrome 3
Hyperlordosis, Increased vertebral height, Short neck OMIM:614205
Gm1 Gangliosidosis
Scoliosis, Platyspondyly, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal heart mo... ORPHA:354
Desbuquois Dysplasia 1
Scoliosis, Platyspondyly, Hyperlordosis, Kyphosis, Short neck OMIM:251450
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, T lymphocytopenia, Cervical spinal canal stenosis, Horseshoe kidney, Decr... ORPHA:508533
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Steatorrhea, Thrombocytopen... OMIM:278000
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3218
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Kyphosis, Hypospadias, Short neck ORPHA:2616
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Hypercholesterolemia ORPHA:254531
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Back pain, Spina bifida occulta OMIM:169550
Mucopolysaccharidosis, Type Vi
Abnormal heart valve morphology, Dermatan sulfate excretion in urine, Ovoid vertebral bodies, Car... OMIM:253200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Thoracic kyphosis, Proteinuria,... ORPHA:505248
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Platyspondyly, T lymphocytopenia, Autoimmune thrombocytopenia, Tubulointerstitial fibr... OMIM:607944
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Platyspondyly, Thoracic kyphosis, Lumbar hyperlordosis, Short neck OMIM:304950
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Lumbar hype... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Kyphosis, Back pain, Lumbar hyperlordosis, Abnormally ossified vertebra... ORPHA:94068
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Ventricular septal defect, Kypho... ORPHA:2789
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia, Abnormal heart morphology OMIM:182290
Myotonia Permanens
Hyperlordosis ORPHA:99735
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Scoliosis, Hypertriglyceridemia, Spinal rigidity, Splenomegaly, Elevated circulati... OMIM:613327
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Short neck OMIM:615065
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
Otospondylomegaepiphyseal Dysplasia
Platyspondyly, Coronal cleft vertebrae, Abnormal vertebral morphology, Lumbar hyperlordosis, Abno... ORPHA:1427
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Hyperlordosis, Spinal canal stenosis, Abnormal vertebral morphology OMIM:616007
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Hypoplasia of penis ORPHA:3068
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Pseudoachondroplasia
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Lumbar hyperlordosis, Atlantoaxi... OMIM:177170
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Hyperlordosis, Biconvex vertebral bodies, Abnormal form of the vertebral... ORPHA:175
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Platyspondyly, Irregular vertebral endplates, Abnormal vertebral morphology ORPHA:174
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Cap Myopathy
Lumbar hyperlordosis, Mitral valve prolapse, Thoracic scoliosis ORPHA:171881
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Aortic valve stenosis, Spina bifida occulta ORPHA:2780
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Platyspondyly, Irregular vertebral endplates, Renal insufficiency, Hypoplasia of t... OMIM:226980
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal cardiac septum morpho... ORPHA:437572
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Short neck, Kyphoscoliosis OMIM:114300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis OMIM:616482
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Short neck, Kyphosis ORPHA:1798
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Hyperlordosis, Platyspondyly, Beaking of vertebral bodies, Thoracic platyspondyly, Thoracolumbar ... ORPHA:457395
Pure Mitochondrial Myopathy
Scoliosis, Lumbar hyperlordosis, Recurrent myoglobinuria ORPHA:254854
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Unilateral renal agenesis, Ab... ORPHA:221139
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Scoliosis, Lumbar hyperlordosis OMIM:601152
Congenital Muscular Dystrophy With Cerebellar Involvement
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Cardiomyopathy ORPHA:370959
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck OMIM:255800
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Hyperlordosis ORPHA:77258
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Spinal ca... ORPHA:15
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Distal Monosomy 10Q
Atrial septal defect, Horseshoe kidney, Acute kidney injury, Enuresis, Lumbar hyperlordosis, Func... ORPHA:96148
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis ORPHA:85167
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Platyspondyly, Beaking of vertebral bodies, Coronal cleft vertebrae OMIM:215150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:612813
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Lumbar hyperlordosis OMIM:607778
Acromesomelic Dysplasia, Maroteaux Type
Thoracolumbar kyphosis, Beaking of vertebral bodies, Ovoid vertebral bodies, Lumbar hyperlordosis... OMIM:602875
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Thoracic kyphosis, Kyphosis, Lumbar hyperl... OMIM:223800
Bethlem Myopathy
Elevated circulating creatine kinase concentration, Scoliosis, Lumbar hyperlordosis, Spinal rigidity ORPHA:610
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pancytopenia, Hyperspl... OMIM:613385
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Increased level... ORPHA:79237
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Martsolf Syndrome 1
Lumbar hyperlordosis, Micropenis, Cardiomyopathy OMIM:212720
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Kyphosis, Abnormality of the ureter, Abnormally ossified... ORPHA:800
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
3Mc Syndrome
Scoliosis, Hyperlordosis, Caudal appendage, Spina bifida occulta, Prominent coccyx ORPHA:293843
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Abnormal heart morphology, Myoglobinuria, Renal tubular acidosis, Hypertrig... ORPHA:370
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Elevated urinary epinephrine, Kyphosis OMIM:162300
Microphthalmia, Lenz Type
Scoliosis, Hyperlordosis, Hydroureter, Kyphosis, Hydronephrosis, Hypospadias ORPHA:568
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, C2-C3 subluxation, Vertebral fusion, Renal cyst, Block vertebrae, Short... OMIM:272460
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosis, Neutropenia, Lumbar hyperlordosis, ... OMIM:271510
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Hypercholesterolemia ORPHA:96184
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Hydronephrosis, Prominent protruding coccyx, Abnormal form of the vertebral... ORPHA:2839
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Abnormality of the ureter ORPHA:3253
Weill-Marchesani Syndrome 1
Scoliosis, Ventricular septal defect, Lumbar hyperlordosis, Pulmonic stenosis, Aortic valve steno... OMIM:277600
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Secundum atrial septal defect, Glandular hypospadias ORPHA:1439
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Enuresis, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Nail-Patella Syndrome
Scoliosis, Hematuria, Back pain, Lumbar hyperlordosis, Glomerulonephritis, Nephrotic syndrome, Re... OMIM:161200
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Abnormal form of the vertebral bodies, Abnormality of the ureter... ORPHA:819
Saethre-Chotzen Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:794
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Hyperlordosis, Cervical spinal canal stenosis, Atrial septal defect, Abnormal heart mo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Hyperlordosis, Cervical spinal canal stenosis, Atrial septal defect, Abnormal heart mo... ORPHA:363958
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD4-positive helper T cells, Decreased pro... OMIM:611926
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Nail-Patella Syndrome
Scoliosis, Hematuria, Spondylolysis, Back pain, Spondylolisthesis, Lumbar hyperlordosis, Stage 5 ... ORPHA:2614
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia, Hypertrophic cardiomyopathy ORPHA:528
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Coronal cleft vertebrae, Ventricular septal defect, Kyphosis,... OMIM:143095
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia OMIM:184850
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Short neck, Micropenis, Ventricular septal defect ORPHA:251028
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Highly elevated creatine kinase, Scoliosis, Hyperlordosis, Cardiomyopathy ORPHA:258
Split Cord Malformation
Scoliosis, Hyperlordosis, Neurogenic bladder, Horseshoe kidney, Abnormality of the vertebral colu... ORPHA:573278
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Lumbar hyperlordosis, Lumbar kyphosis, Back pain OMIM:619234
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Hypercholesterolemia, Kyphosis ORPHA:2479
Multiple Endocrine Neoplasia Type 2
Hyperlordosis, Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypercalciuria, Hyp... ORPHA:653
Camurati-Engelmann Disease
Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Kyphosis, Splenomegaly, Urinary re... ORPHA:1328
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Hypoalbu... ORPHA:64753
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis, Oligosacchariduria, Cardiomegaly, Left ventricular hypertrophy, Elevate... ORPHA:365
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Left ventricular hypertrophy ORPHA:90065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615356
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Scoliosis, Hyperlordosis, Atrial septal defect, Abnormal heart morphology, Ventricular septal def... ORPHA:363700
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Alexander Disease
Scoliosis, Hyperlordosis, Short neck, Kyphosis ORPHA:58
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Myoglobinuria, Renal tubular acidosis, Hypertriglyceridemia, Anemia, Spleno... ORPHA:264580
Williams Syndrome
Scoliosis, Abnormal endocardium morphology, Abnormal circulating lipid concentration, Hypercalciu... ORPHA:904
Desbuquois Dysplasia 2
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:615777
Opitz-Kaveggia Syndrome
Abnormal heart morphology, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck OMIM:305450
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Platyspondyly, Kyphoscoliosis OMIM:184253
Frontorhiny
Scoliosis, Lumbar hyperlordosis ORPHA:391474
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Kyphosis OMIM:617011
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Congenital Fiber-Type Disproportion Myopathy
Scoliosis, Hyperlordosis, Abnormal heart morphology, Cor pulmonale, Kyphoscoliosis ORPHA:2020
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Scoliosis, Ventricular septal defect, Lumbar hyperlordosis, Vesicoureteral reflux, Renal cyst, Pa... OMIM:616975
Weill-Marchesani Syndrome 2
Scoliosis, Ventricular septal defect, Lumbar hyperlordosis, Pulmonic stenosis, Aortic valve steno... OMIM:608328
Alagille Syndrome 1
Hypercholesterolemia, Atrial septal defect, Ventricular septal defect, Focal segmental glomerulos... OMIM:118450
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis, Atrial septal defect, Truncus arteriosus, Ventricular septal defect ORPHA:261330
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Hypernatriuria... ORPHA:275761
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Scoliosis, Lumbar hyperlordosis, Atrial septal defect ORPHA:522077
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Chronic neutrope... ORPHA:79259
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Lumbar hyperlordosis OMIM:250420
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, ... ORPHA:363618
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Shprintzen Omphalocele Syndrome
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:182210
Sponastrime Dysplasia
Scoliosis, Platyspondyly, Abnormality of the vertebral column, Biconcave vertebral bodies, Neutro... ORPHA:93357
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Hypercholesterolemia, Hematuria, Hypercalciuria, Anemia, Renal insufficiency, Hypoammo... ORPHA:534
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphosis, Micropenis, Kyphoscoliosis ORPHA:457359
Turnpenny-Fry Syndrome
Atrial septal defect, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Tricuspid valve prolapse, Mi... OMIM:618371
Lowe Oculocerebrorenal Syndrome
Scoliosis, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Platyspondyly, Hyperp... OMIM:309000
Iniencephaly
Hyperlordosis, Absent vertebra ORPHA:63259
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Kyphosis ORPHA:2232
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Sacral dimple, Lumbar hyperlordosis, Spina bifida occulta, Hori... OMIM:211910
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Unilateral renal agenesis, Hem... ORPHA:500150
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Anterior wedging of T12, Lumbar hyperlordosis, Anterior wedging of T11, ... OMIM:300106
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis, Hypophosphaturia, Hypocalciuria ORPHA:73223
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Renal cyst, Hypospadias, Short neck OMIM:113620
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Renal artery stenosis, Increased LDL cholesterol conc... ORPHA:391665
Microphthalmia, Syndromic 1
Scoliosis, Hydroureter, Renal hypoplasia, Lumbar hyperlordosis, Hypospadias, Bicuspid aortic valv... OMIM:309800
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Hypercholesterolemia ORPHA:273

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 Rnf14

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 Rnf14.

There are 1 publication 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) Rnf145em1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Rnf14em1(IMPC)Ccpcz Intra-exon deletion Mice
Rnf14tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rnf14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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