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Gene: Rnf14 MGI:1929668

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Gene Summary

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

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 heart weight Rnf14em1(IMPC)Ccpcz HOM Early adult 2.27×10-07
lordosis Rnf14em1(IMPC)Ccpcz HOM   Early adult 2.19×10-06
abnormal skin morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating HDL cholesterol level Rnf14em1(IMPC)Ccpcz HOM Early adult 1.62×10-06
abnormal kidney morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00

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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 Dorso Ventral

28 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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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
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Elevated circulating creatine kinase concentrat... OMIM:300718
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Myosclerosis, Autosomal Recessive
Elevated circulating creatine kinase concentration, Thoracolumbar scoliosis, Lumbar hyperlordosis... OMIM:255600
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... OMIM:609223
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Cardiomyopathy, Spinal ... OMIM:609308
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Back pain, Hyperlordosis OMIM:618129
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity, Hyperlordosis OMIM:617404
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Left ventricular hypertrophy, Elevated circulating crea... ORPHA:206546
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis ORPHA:408
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Myasthenic Syndrome, Congenital, 14
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:616228
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis OMIM:607088
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Scoliosis, Hyper... ORPHA:262
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Myopathy, Distal, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Dilated card... OMIM:160500
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:62
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... ORPHA:577
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Rigid Spine Syndrome
Scoliosis, Spinal rigidity, Hyperlordosis ORPHA:97244
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis OMIM:611067
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Kyphoscoliosis, Scoliosis, Hyperlordosis, Abnormal vertebral morph... OMIM:618363
Mucolipidosis Iii Gamma
Kyphosis, Aortic valve stenosis, Increased serum beta-hexosaminidase, Short neck, Scoliosis, Hype... OMIM:252605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Nemaline Myopathy 3
Spinal rigidity, Scoliosis, Hyperlordosis, Dilated cardiomyopathy, Mildly elevated creatine kinase OMIM:161800
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Hyperlordosis ORPHA:352470
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:611588
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Hypochondroplasia
Spinal canal stenosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Diastrophic Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Cervical kyphosis, Hypoplastic cervical vertebrae OMIM:222600
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Sco... OMIM:613156
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Hyperlordosis, Proteinuria ORPHA:1192
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis ORPHA:267
Anauxetic Dysplasia 2
Short neck, Cervical spine instability, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ovoid verteb... OMIM:617396
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... OMIM:184100
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... OMIM:256050
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:269
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... ORPHA:1797
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Hypospadias, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Scoliosis, Hyperlordosis OMIM:617352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Vertebral... OMIM:606612
Achondroplasia
Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosis, Lumbar kyphosis in in... OMIM:100800
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, Lumbar hyperlordosis OMIM:610313
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Dilated c... OMIM:607155
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Scoliosis, Hyp... OMIM:253700
Mucopolysaccharidosis, Type X
Nephrolithiasis, Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy... OMIM:619698
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Nemaline Myopathy 2
Mildly elevated creatine kinase, Scoliosis, Spinal rigidity, Hyperlordosis OMIM:256030
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis OMIM:610687
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Hypospadias, Abnormality of the ureter, Short neck, Hyperlordosis, Fused cervical verte... ORPHA:2522
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... ORPHA:99642
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Elevated circulating creatin... ORPHA:86812
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Kyphosis, Anterior beaking of lumbar vertebrae, Platyspon... OMIM:253000
King-Denborough Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Short neck, Scoliosis, Elevated circulating creatine kinase... OMIM:619542
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Short neck, Scolio... ORPHA:98863
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Hyperlordosis ORPHA:369840
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... ORPHA:261
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Abnorma... OMIM:615980
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration, Right ventri... ORPHA:353
Myopathy, Centronuclear, 1
Mildly elevated creatine kinase, Hyperlordosis OMIM:160150
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:613157
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Oculocerebrodental Syndrome
Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Hypercalcemia, Nephrocalcinosis ORPHA:557003
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain, Elevated circulating creatine kinase concentration OMIM:167320
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis, Mildly elevated creatine kinase ORPHA:536516
Ck Syndrome
Kyphoscoliosis, Lumbar hyperlordosis ORPHA:251383
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Increased vertebral height, Kyphoscoliosis, Hyperlordosis, Renal hypoplasia, Abnormal vertebral m... OMIM:616817
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordos... ORPHA:1159
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Abnormality of the vertebral column, Elevated circulating ... ORPHA:52430
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Multiple Metaphyseal Dysplasia
Hyperlordosis ORPHA:93430
Mucopolysaccharidosis, Type Ivb
Kyphosis, Aortic valve stenosis, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies,... OMIM:253010
Thoracomelic Dysplasia
Short neck, Hyperlordosis ORPHA:1803
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Ventricular ... OMIM:616730
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, Centra... OMIM:602557
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Myopathy, Congenital, With Fiber-Type Disproportion
Lumbar hyperlordosis, Scoliosis, Dilated cardiomyopathy OMIM:255310
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Braddock-Carey Syndrome 1
Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve prolapse, Hyperlordosis OMIM:619980
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Mucopolysac... ORPHA:582
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion ORPHA:313892
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Temple Syndrome
Hypertriglyceridemia, Scoliosis, Hypercholesterolemia OMIM:616222
Pseudoachondroplasia
Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Abnormal form of the... ORPHA:750
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, Lumbar hyperlordosis OMIM:619467
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, ... OMIM:609616
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Butterfly vertebrae, Atrial septal defect, Scoliosis, Hyperlordosis, Ventricular septal defect, P... OMIM:618870
Spondyloepiphyseal Dysplasia Tarda
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphoscoliosis... ORPHA:93284
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:619451
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Micropenis, Thoracic kyphosis, ... ORPHA:3041
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Spinal rigidity, Elevated circulating creatine kinase concentration, Scolio... OMIM:617114
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomeruloscleros... OMIM:618348
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Dilated cardiomyopa... OMIM:310200
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, S... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Platyspondyly, Hypoplastic sacrum OMIM:271650
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Short neck, Renovascular hypertension, Dilated cardiomyopathy, Hypercholes... ORPHA:401923
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Elevated circulating creatine kinase concentrat... ORPHA:171436
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, 3-Methylglutaric aciduria, Hyperammonemia, Elev... ORPHA:26791
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:435387
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foc... ORPHA:567548
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Right ventricular hypertrophy, Elevated circulating creatine kinase concentratio... ORPHA:268
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:181393
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Left ventricular hypertrophy, Hyperlordosis ORPHA:169186
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:353327
Three M Syndrome 1
Increased vertebral height, Hypospadias, Short neck, Spina bifida occulta, Hyperlordosis OMIM:273750
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short neck, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:3218
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... ORPHA:93314
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis, Elevated circulating ... OMIM:255800
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Three M Syndrome 3
Increased vertebral height, Short neck, Hyperlordosis OMIM:614205
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Hypercholesterolemia ORPHA:254531
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Desbuquois Dysplasia 1
Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis OMIM:251450
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis OMIM:156500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Mitral valve prolapse, Atrial septal defect, Scoliosis, Hyperlordosis OMIM:300986
Fucosidosis
Glycopeptiduria, Lumbar hyperlordosis, Oligosacchariduria, Anterior beaking of lumbar vertebrae, ... OMIM:230000
3M Syndrome
Kyphosis, Increased vertebral height, Hypospadias, Short neck, Scoliosis, Hyperlordosis ORPHA:2616
Gm1 Gangliosidosis
Kyphosis, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ventric... ORPHA:354
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Smith-Magenis Syndrome
Abnormal heart morphology, Hypertriglyceridemia, Scoliosis, Hypercholesterolemia OMIM:182290
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Dyggve-Melchior-Clausen Syndrome, X-Linked
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Thoracic kyphosis OMIM:304950
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Arthrogryposis, Distal, Type 5D
Short neck, Scoliosis, Hyperlordosis OMIM:615065
Lateral Meningocele Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ventricula... ORPHA:2789
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... OMIM:183900
Myotonia Permanens
Hyperlordosis ORPHA:99735
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Short neck,... OMIM:607095
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... ORPHA:94068
Joubert Syndrome 37
Lumbar hyperlordosis, Hydronephrosis, Micropenis OMIM:619185
Three M Syndrome 2
Lumbar hyperlordosis, Short neck, Hyperlordosis OMIM:612921
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly OMIM:616482
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Elevated circulating creatine kinase concentration, Hyperlord... ORPHA:437572
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis OMIM:618443
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Lumbar hyperlordosis, Vertebral fusion, Biconvex vertebral bodies, Platyspondyly, Short neck, Bic... ORPHA:93315
Otospondylomegaepiphyseal Dysplasia
Lumbar hyperlordosis, Abnormally ossified vertebrae, Platyspondyly, Short neck, Abnormal vertebra... ORPHA:1427
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Hyperlipidemia, Nephrotic range proteinuria, Short neck, Nephropathy, Platy... ORPHA:1830
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies OMIM:608728
Cap Myopathy
Thoracic scoliosis, Mitral valve prolapse, Lumbar hyperlordosis ORPHA:171881
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hyperlordosis ORPHA:3068
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Abnormal vertebral morphology ORPHA:174
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lumbar hyperlordosis, Short neck, Platyspondyly, Focal segmental glomeruloscl... OMIM:242900
Cohen Syndrome
Thoracic scoliosis, Mitral valve prolapse, Lumbar hyperlordosis OMIM:216550
Microphthalmia, Lenz Type
Kyphosis, Hypospadias, Hydroureter, Scoliosis, Hyperlordosis, Hydronephrosis ORPHA:568
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Back pain, Spina bifida occulta OMIM:169550
Pseudoachondroplasia
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspond... OMIM:177170
Arthrogryposis, Distal, Type 3
Thoracolumbar scoliosis, Lumbar hyperlordosis, Short neck, Kyphoscoliosis OMIM:114300
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Scoliosis, Spina bifida occulta, Hyperlordosis ORPHA:2780
Achondroplasia
Spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Cervical spinal canal stenosis, Thoracolum... ORPHA:15
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hyperlordosis, Renal insufficiency, Hypoplasia of t... OMIM:226980
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Pure Mitochondrial Myopathy
Recurrent myoglobinuria, Lumbar hyperlordosis, Scoliosis ORPHA:254854
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:370959
Lipodystrophy, Congenital Generalized, Type 4
Spinal rigidity, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Hy... OMIM:613327
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Short neck, Hyperlordosis, Thoracolum... ORPHA:457395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Lumbar hyperlordosis, Atrial septal defect, Short neck, Heparan sulfate excre... ORPHA:505248
Pfeiffer Syndrome
Short neck, Hyperlordosis ORPHA:710
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hypocalcemia, Abnormally ossified vertebrae, Biconvex vertebr... ORPHA:175
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Spinal canal stenosis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Coronal cleft ve... OMIM:616007
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Hyperlordosis ORPHA:77258
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:633
Acromesomelic Dysplasia 1
Beaking of vertebral bodies, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Lowe... OMIM:602875
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical instability, Cervical sp... ORPHA:508533
Distal Monosomy 10Q
Lumbar hyperlordosis, Atrial septal defect, Spina bifida occulta, Functional abnormality of the b... ORPHA:96148
Pycnodysostosis
Kyphosis, Spondylolisthesis, Spondylolysis, Scoliosis, Hyperlordosis ORPHA:763
Bethlem Myopathy
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:610
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, C2-C3 subluxation, Short neck, Scoliosis, Hypoplasia of the odonto... OMIM:272460
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:607778
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short neck, Lumbar hyperlordosis ORPHA:171866
3Mc Syndrome
Scoliosis, Spina bifida occulta, Hyperlordosis, Caudal appendage, Prominent coccyx ORPHA:293843
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... OMIM:223800
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Hypercholesterolemia ORPHA:96184
Smith-Magenis Syndrome
Abnormality of the ureter, Scoliosis, Abnormal form of the vertebral bodies, Hypertriglyceridemia... ORPHA:819
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Increased intervertebral spa... OMIM:607944
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Split Cord Malformation
Kyphoscoliosis, Butterfly vertebrae, Back pain, Abnormal thoracic spine morphology, Hypospadias, ... ORPHA:573278
Pelvis-Shoulder Dysplasia
Prominent protruding coccyx, Lumbar hyperlordosis, Abnormal form of the vertebral bodies, Hydrone... ORPHA:2839
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Schwartz-Jampel Syndrome
Nephrolithiasis, Kyphosis, Spinal rigidity, Abnormally straight spine, Abnormally ossified verteb... ORPHA:800
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Cardiomyopathy, Micropenis OMIM:212720
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hyperlordosis ORPHA:3253
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic stenosis, Scoliosis,... OMIM:277600
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Elevated urinary epinephrine, Scoliosis, Hyperlordosis OMIM:162300
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Glandular hypospadias, Secundum atrial septal defect ORPHA:1439
Nail-Patella Syndrome
Nephrotic syndrome, Back pain, Lumbar hyperlordosis, Scoliosis, Hematuria, Renal insufficiency, P... OMIM:161200
Galactokinase Deficiency
Increased level of galactitol in urine, Increased level of galactitol in plasma, Hypergalactosemi... ORPHA:79237
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... ORPHA:64753
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Platyspondyly, Hyperlordosis, Thoracolumbar scoliosis, Thoracolumbar kyphosis, Ovoid ve... OMIM:618019
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis OMIM:613385
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hypercholesterolemia OMIM:615812
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Kyphoscoliosis, Lumbar hyperlordosis, Dermatan sulfate excretion in urine, Ovoid... OMIM:253200
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Nail-Patella Syndrome
Nephrotic syndrome, Spondylolisthesis, Nephritis, Back pain, Lumbar hyperlordosis, Spondylolysis,... ORPHA:2614
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypertrophic cardiomyopathy, Hypercholesterolemia ORPHA:528
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Highly elevated creatine kinase, Scoliosis, Cardiomyopathy, Hyperlordosis ORPHA:258
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Thoracic scoliosis, Lumbar hyperlordosis, Platyspondyly, Thoracic pl... OMIM:619636
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypert... ORPHA:370
Koolen-De Vries Syndrome Due To A Point Mutation
Kyphosis, Bicuspid aortic valve, Spondylolisthesis, Atrial septal defect, Pulmonic stenosis, Hypo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Kyphosis, Bicuspid aortic valve, Spondylolisthesis, Atrial septal defect, Pulmonic stenosis, Hypo... ORPHA:363958
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Lumbar hyperlordosis, Short neck, Micropenis ORPHA:251028
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Lumbar hyperlordosis, Back pain, Lumbar kyphosis OMIM:619234
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Hypercholesterolemia ORPHA:2479
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Irregular vertebral endplates, Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Ventricular hypert... OMIM:143095
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosi... OMIM:271510
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrat... ORPHA:365
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Kyphoscoliosis, Lumbar hyperlordosis OMIM:184253
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Scoliosis, Narrow vertebral interpedicu... OMIM:250250
Alexander Disease
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:58
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615356
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Hyperlordosis ORPHA:221139
Williams Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Proteinuria, Abnormal endocardium ... ORPHA:904
Multiple Endocrine Neoplasia Type 2
Nephrolithiasis, Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Elevated urinary catecho... ORPHA:653
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased glomerular filtration rate, Steatorrhea, ... ORPHA:470
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Hyperlordosis ORPHA:261330
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Opitz-Kaveggia Syndrome
Lumbar hyperlordosis, Hypospadias, Short neck, Sacral dimple, Abnormal heart morphology OMIM:305450
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Cor pulmonale, Scoliosis, Hyperlordosis, Abnormal heart morphology ORPHA:2020
Frontorhiny
Lumbar hyperlordosis, Scoliosis ORPHA:391474
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Atrial septal defect, Pulmonic stenosis, Scoliosis, Hyperlordosis, Ventricular se... ORPHA:363700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Stiff-Person Syndrome
Lumbar hyperlordosis OMIM:184850
Camurati-Engelmann Disease
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Urinary retention, Hyper... ORPHA:1328
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic stenosis, Scoliosis,... OMIM:608328
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Hypospadias, Scoliosis, Ventricular septal defect, Renal cyst, Patent foram... OMIM:616975
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypert... ORPHA:264580
Alagille Syndrome 1
Renal tubular acidosis, Atrial septal defect, Hemivertebrae, Tetralogy of Fallot, Focal segmental... OMIM:118450
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Scoliosis, Atrial septal defect ORPHA:522077
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Short neck, Scoliosis, Hyperlordosis, Unilateral renal hypoplasia, Sacral dimple OMIM:619950
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, Hypercholesterolemia OMIM:610644
Lowe Oculocerebrorenal Syndrome
Kyphosis, Aminoaciduria, Proximal renal tubular acidosis, Platyspondyly, Scoliosis, Renal Fanconi... OMIM:309000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypert... ORPHA:79240
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis OMIM:301066
Bardet-Biedl Syndrome 20
Atrial septal defect, Proteinuria, Hypercholesterolemia, Micropenis OMIM:619471
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral valve calcification, Hypertriglyceridemia, Hypercholesterolemia, Ve... ORPHA:363618
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Micropenis ORPHA:457359
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Double outlet right ventricle, Hypomagnesemia, Hypocalcemia, Hypoplastic left heart, Micropenis, ... OMIM:619503
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hyperlipidemia, Tubulointerstitial fibrosis, Enlarged kidney, Hypertriglyceridem... ORPHA:79259
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Lumbar hyperlordosis, Atrial septal defect, Thoracic kyphoscoliosis, Mi... OMIM:618371
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Kyphosis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypo... ORPHA:534
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypernatriuria, Hypertriglyceridemia, Hyperu... ORPHA:90041
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Sponastrime Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Hypospadias, Abnormality of the vertebral column, Platyspon... ORPHA:93357
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Camptodactyly Syndrome, Guadalajara, Type I
Lumbar hyperlordosis, Horizontal sacrum, Spina bifida occulta, Sacral dimple, Hypoplastic 5th lum... OMIM:211910
Lysosomal Acid Lipase Deficiency
Steatorrhea, Abnormal urine potassium concentration, Hypernatriuria, Hypertriglyceridemia, Hypona... ORPHA:275761
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Unilateral renal agenesis, Hemiverteb... ORPHA:500150
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Atrioventricular canal defect, Ventricular septal d... OMIM:619534
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria, Hyperlordosis ORPHA:73223
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Lumbar hyperlordosis, Anterior wedging of T11, Platyspondyly, Hypoplasia of the odontoi... OMIM:300106
Branchiooculofacial Syndrome
Kyphosis, Hypospadias, Short neck, Hyperlordosis, Renal cyst OMIM:113620
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, Hypercholesterolem... ORPHA:391665
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Hypercholesterolemia ORPHA:273
Microphthalmia, Syndromic 1
Kyphoscoliosis, Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Hydroureter, Scoliosis,... OMIM:309800
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Hypercholesterolemia OMIM:606721

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
Rnf14tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rnf14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rnf14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rnf14tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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