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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
lordosis Rnf14em1(IMPC)Ccpcz HOM   Early adult 2.13×10-06
abnormal kidney morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00
decreased heart weight Rnf14em1(IMPC)Ccpcz HOM Early adult 5.09×10-07
increased circulating HDL cholesterol level Rnf14em1(IMPC)Ccpcz HOM Early adult 2.65×10-06
abnormal skin morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00
increased fasting circulating glucose level Rnf14em1(IMPC)Ccpcz HOM Early adult 3.32×10-05

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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 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 Whole Body Dorso Ventral

28 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
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Short neck, Hyperlord... OMIM:300718
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Myosclerosis, Autosomal Recessive
Spinal rigidity, Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kin... OMIM:255600
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Kyphoscoli... OMIM:271630
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... OMIM:609223
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Kyphosis, Spinal ri... OMIM:617404
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Lumbar hyperlordosis, Thoracic scoliosis, Elevated circulating creatine k... ORPHA:206546
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:408
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:600175
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog... OMIM:620211
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Spinal rigidity, Lumbar hyperlordosis, Cardiomyopathy, Elevated circulating creatine kinase conce... OMIM:609308
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Mucolipidosis Type Iii
Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal a... ORPHA:577
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Myopathy, Distal, 1
Dilated cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration,... OMIM:160500
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:62
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Abnormal mitral valve morphology, Proteinuria, Hyperlordos... ORPHA:1192
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615290
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy, Hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity OMIM:161800
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Elevated creatine kinase after exercise ORPHA:352470
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Lumbar hyperlordosis, Hyperlipidemi... OMIM:615980
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Glucose intolerance, Hyperglycemia OMIM:307500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... OMIM:617396
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:618129
Hypochondroplasia
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Hyperlordosis, ... OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Exercise-induced myoglobinuria, Elevated circulating creatine kinase conc... OMIM:607155
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis OMIM:620389
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:267
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Scoliosis, Hyperlordosis OMIM:617352
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... OMIM:184100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Patent foramen ovale, Elevated circulating creatine kinase concentration OMIM:615156
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Kyphosis, Hyperlordosis ORPHA:3085
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left ve... ORPHA:86812
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Abnormal sacrum m... ORPHA:1797
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Elevated circulating creatine kinase concentration, Hyperlordosis, ... OMIM:253700
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec... OMIM:256050
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis OMIM:222600
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Myasthenic Syndrome, Congenital, 14
Hyperlordosis, Scoliosis, Mildly elevated creatine kinase OMIM:616228
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb... OMIM:264180
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Ovoid vertebral bodies ORPHA:63446
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Recurrent hypoglycemia, Increased vertebral heig... OMIM:616817
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervical verte... ORPHA:2522
Facioscapulohumeral Dystrophy
Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:269
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Platyspondyly, Thickened aortic valve cusp, Nephrolithiasis, Left ventricu... OMIM:619698
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... OMIM:619542
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Spinal rigidity ORPHA:157973
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine, Kerata... OMIM:253000
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Short neck, Mucopolysacchariduria, Hy... OMIM:252605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Vertebral fusion, Scoliosis, K... OMIM:606612
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Increased LDL cholesterol concentration, Elevated circulating c... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hypertrophic cardiomyopathy, Increased LDL cholesterol concentration, Elevated circulat... ORPHA:98863
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613157
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Increased LDL cholesterol concentr... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Increased LDL cholesterol concentr... ORPHA:261
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Myopathy, Centronuclear, 1
Hyperlordosis, Mildly elevated creatine kinase OMIM:160150
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Irregular vertebral endplates OMIM:618363
Nemaline Myopathy 2
Hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity OMIM:256030
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Cervical kyphosis, Type II diabetes mellitus, Bicuspid aortic valve, Shor... ORPHA:401923
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata... ORPHA:99886
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Scoliosis, Right ventricular hypertrophy, Elevated circulating creatine kin... ORPHA:353
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Hyperlordosis ORPHA:369840
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Hyperlordosis, Scoliosis, Thoracic kyphosis ORPHA:557003
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Hyperlordosis, Scoliosis, Mildly elevated creatine kinase ORPHA:536516
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
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
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis OMIM:184250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Cardiomyopathy, Urinary bladder sphincter dysfunction, Eleva... ORPHA:52430
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis OMIM:255310
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi... ORPHA:1159
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Jansen-De Vries Syndrome
Bicuspid aortic valve, Hyperlordosis, Ventricular septal defect OMIM:617450
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Thoracomelic Dysplasia
Short neck, Hyperlordosis ORPHA:1803
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Butterfly vertebrae, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hyper... OMIM:618870
Braddock-Carey Syndrome 1
Hyperlordosis, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:611588
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria OMIM:222100
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Mucopolysaccha... ORPHA:582
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... ORPHA:750
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Squared-off platyspon... ORPHA:93352
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:619451
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hyper... OMIM:310200
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Myopathy, Myofibrillar, 7
Enuresis nocturna, Thoracic kyphosis, Lumbar hyperlordosis, Elevated circulating creatine kinase ... OMIM:617114
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, St... OMIM:618348
Spondyloepiphyseal Dysplasia Tarda
Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste... ORPHA:93284
Congenital Myopathy 10B, Mild Variant
Abnormal circulating creatine kinase concentration, Elevated circulating creatine kinase concentr... OMIM:620249
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Thoracolumbar scoliosis, Micropenis, Lumbar kyphosis in inf... ORPHA:3041
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate exc... OMIM:253010
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Scoliosis, Kyphosi... ORPHA:171436
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2831
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:435387
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, In... ORPHA:79237
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Left ventricular hypertrophy, Hyperlordosis ORPHA:169186
Hypochondroplasia
Lumbar hyperlordosis, Widened interpedicular distance OMIM:146000
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:353327
Stiff Person Spectrum Disorder
Lumbar hyperlordosis, Diabetes mellitus ORPHA:3198
Three M Syndrome 1
Increased vertebral height, Short neck, Hyperlordosis, Spina bifida occulta, Hypospadias OMIM:273750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Pollakisuria, Ri... ORPHA:268
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula... OMIM:602557
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Elevated circulating creatine kinase conc... OMIM:255800
Temple Syndrome
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia OMIM:616222
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3218
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... OMIM:262190
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hyperlo... OMIM:613327
Three M Syndrome 3
Short neck, Increased vertebral height, Hyperlordosis OMIM:614205
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia ORPHA:633
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Insulin-resistant di... OMIM:226980
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Vertebral segmentation defect ORPHA:1323
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hyperlordosis, Scoliosis, Atrial septal defect, Mitral valve prolapse OMIM:300986
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates OMIM:156500
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
3M Syndrome
Hypospadias, Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Cardiomyopathy, Abnormal heart morphology, ... ORPHA:354
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Ventricular septal defect, Short neck, Hyperlordosis, Scol... ORPHA:2789
Mody
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... ORPHA:552
Myotonia Permanens
Hyperlordosis ORPHA:99735
Smith-Magenis Syndrome
Abnormal heart morphology, Scoliosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Scoliosis, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... ORPHA:94068
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracolumbar scoliosis, Scoliosis OMIM:114300
Joubert Syndrome 37
Hydronephrosis, Lumbar hyperlordosis, Micropenis OMIM:619185
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis OMIM:618443
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Short neck, Coronal cleft ver... ORPHA:1427
Cap Myopathy
Lumbar hyperlordosis, Mitral valve prolapse, Thoracic scoliosis ORPHA:171881
Congenital Generalized Lipodystrophy
Insulin resistance, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hypercholesterolemia, Hypertri... ORPHA:528
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Platyspondyly... ORPHA:1830
Anauxetic Dysplasia 1
Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Lumbar hyperlordosis, Short neck,... OMIM:607095
Three M Syndrome 2
Short neck, Hyperlordosis, Lumbar hyperlordosis OMIM:612921
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenosis, Hypogl... OMIM:616007
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hyperlordosis, Increased circulating ferritin concentration OMIM:600462
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hypoglycemia, Hyperammonemia, Ventricular septal defect, Hydronephrosi... OMIM:620454
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Microphthalmia, Lenz Type
Hypospadias, Hydroureter, Hydronephrosis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:568
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Platyspondyly, Biconvex vertebral bodies, Vertebral wedging, Lumba... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Lumbar hyperlordosis, Platyspondyly, Irregular vertebral endplates ORPHA:174
Fucosidosis
Anterior beaking of thoracic vertebrae, Oligosacchariduria, Cervical platyspondyly, Lumbar hyperl... OMIM:230000
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hyperlordosis ORPHA:3068
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Mitral valve prolapse, Pericarditis ORPHA:2848
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Lumbar hyperlordosis, Back pain OMIM:169550
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Platyspondyly, Lumbar hyperlordosis, Stage 5 chronic kidney d... OMIM:242900
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:370959
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Cohen Syndrome
Lumbar hyperlordosis, Mitral valve prolapse, Thoracic scoliosis OMIM:216550
Smith-Mccort Dysplasia 2
Platyspondyly, Short neck, Hypoplasia of the odontoid process, Hyperlordosis OMIM:615222
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Diabetes mellitus ORPHA:77296
Pfeiffer Syndrome
Short neck, Hyperlordosis ORPHA:710
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis, Recurrent myoglobinuria ORPHA:254854
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Stiff-Person Syndrome
Lumbar hyperlordosis, Diabetes mellitus OMIM:184850
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Sacral dimple, ... ORPHA:175
Arthrogryposis, Distal, Type 5D
Short neck, Scoliosis, Hyperlordosis OMIM:615065
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion OMIM:617796
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Abnormal heart morphology, Heparan sulfate excretion in urine, Hypertrophic card... ORPHA:505248
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Platyspondyly, Thoracic platyspondyly, Patent foramen ovale, Kyphoscoliosis, Short neck, Beaking ... ORPHA:457395
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Horse... ORPHA:508533
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Thoracic kyphoscoliosis, Increased vertebral height, Lumbar hyperlordosis OMIM:613385
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Short neck, Lumbar hyperlordosis OMIM:612813
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:763
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Smith-Magenis Syndrome
Abnormal form of the vertebral bodies, Abnormality of the ureter, Hypercholesterolemia, Hypertrig... ORPHA:819
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, C2-C3 subluxation, Vertebral segmentation de... OMIM:272460
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Lumbar hyperlordosi... ORPHA:96148
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Beaking of vertebral bodies OMIM:215150
Bethlem Muscular Dystrophy
Spinal rigidity, Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:610
Acromesomelic Dysplasia 1
Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o... OMIM:602875
Trichorhinophalangeal Syndrome, Type I
Abnormal blood phosphate concentration, Abnormal circulating calcium concentration, Scoliosis, Hy... OMIM:190350
Chromosome 10Q26 Deletion Syndrome
Lumbar hyperlordosis, Vesicoureteral reflux, Short neck, Atrial septal defect, Micropenis OMIM:609625
Citrullinemia Type Ii
Hypoalbuminemia, Enuresis, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperam... ORPHA:247585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Renal tubular acidosis, Elevated circulating creatine kinase concentratio... ORPHA:79240
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
3Mc Syndrome
Caudal appendage, Prominent coccyx, Hyperlordosis, Spina bifida occulta, Scoliosis ORPHA:293843
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Kyphoscoliosis, Tubulointers... OMIM:607944
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia ORPHA:90065
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Alexander Disease
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Diabetes mellitus ORPHA:58
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Pelvis-Shoulder Dysplasia
Hydronephrosis, Lumbar hyperlordosis, Abnormal form of the vertebral bodies, Prominent protruding... ORPHA:2839
Martsolf Syndrome 1
Micropenis, Lumbar hyperlordosis, Cardiomyopathy, Thoracic scoliosis OMIM:212720
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hyperlordosis ORPHA:3253
Schwartz-Jampel Syndrome
Platyspondyly, Abnormality of the ureter, Elevated circulating creatine kinase concentration, Nep... ORPHA:800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Hypoglycemia, Renal tubular acidosis, Elevated circulating creatine kinase concen... ORPHA:264580
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Lumbar hyperlordosis, Platyspondyly, Kyphosis OMIM:616482
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Lumbar hyperlordosis, Ventricular septal defect, Scoliosis, Spinal canal s... OMIM:277600
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Postprandial hyperglycemia, Hypotriglyceridemia, Insulin resistance, ... ORPHA:2298
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Nail-Patella Syndrome
Lumbar hyperlordosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic ... OMIM:161200
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Cardiomyopathy, Anterior wedging of L1, Lumbar hyperlordosis,... OMIM:253200
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Cervical spinal canal stenosis, Abnormal heart morphology, Sacral dimple, Vesicou... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Cervical spinal canal stenosis, Abnormal heart morphology, Sacral dimple, Vesicou... ORPHA:363958
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Lumbar kyphosis, Back pain, Lumbar hyperlordosis OMIM:619234
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Cardiomyopathy, Highly elevated creatine kinase ORPHA:258
Ring Chromosome 12 Syndrome
Glandular hypospadias, Lumbar hyperlordosis, Secundum atrial septal defect ORPHA:1439
Achondroplasia
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe platyspondyly, Spinal sten... OMIM:100800
Nail-Patella Syndrome
Nephritis, Spondylolysis, Lumbar hyperlordosis, Stage 5 chronic kidney disease, Renal insufficien... ORPHA:2614
Saethre-Chotzen Syndrome
Hyperlordosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:794
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... ORPHA:470
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Micropenis, Short neck, Lumbar hyperlordosis, Ventricular septal defect ORPHA:251028
Acromesomelic Dysplasia 4
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thoracic scoliosis, Beaking of verte... OMIM:619636
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Elevated urinary epinephrine level, Scoliosis, Hyperlordosis OMIM:162300
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Hypercholesterolemia, Kyphosis ORPHA:2479
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscoliosis, Narrow vertebral... OMIM:271510
Williams Syndrome
Type II diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... ORPHA:904
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... ORPHA:365
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricula... OMIM:143095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615356
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Cartilage-Hair Hypoplasia
Narrow vertebral interpedicular distance, Lumbar hyperlordosis, Hypoplasia of the odontoid proces... OMIM:250250
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis OMIM:602471
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Hyperlordosis ORPHA:221139
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter, Lumbar hyperlordosis, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis OMIM:620450
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Desbuquois Dysplasia 2
Platyspondyly, Short neck, Lumbar hyperlordosis OMIM:615777
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:261330
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes mellitus, Hypercholes... OMIM:176270
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Opitz-Kaveggia Syndrome
Abnormal heart morphology, Lumbar hyperlordosis, Short neck, Hypospadias, Sacral dimple OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephrolithiasis, E... ORPHA:653
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Abnormal heart morphology, Mitral valve prolapse, Atrial septal defect, Hyperl... OMIM:615873
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Abnormal heart morphology, Kyphoscoliosis, Hyperlordosis, Scoliosis ORPHA:2020
Frontorhiny
Lumbar hyperlordosis, Scoliosis ORPHA:391474
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... ORPHA:363700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypoglycemia, Xanthelasma, Stage 5 chronic kidney disease, Hyperlipidemia, Hype... ORPHA:79259
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Hypoglycemia OMIM:301066
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype... ORPHA:90041
Camurati-Engelmann Disease
Urinary retention, Abnormality of the vertebral column, Hypertrophic cardiomyopathy, Hyperlordosi... ORPHA:1328
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Lumbar hyperlordosis, Ventricular septal defect, Scoliosis, Spinal canal s... OMIM:608328
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Tetra... OMIM:118450
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Ren... OMIM:616975
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Unilateral renal hypoplasia, Short neck, Hyperlordosis, Scoliosis, Sacral dimple OMIM:619950
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Micropenis, Neonatal hypoglycemia, Kyphosis ORPHA:457359
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Scoliosis, Atrial septal defect ORPHA:522077
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Unilateral renal agenesis, Hypomagnesemia, Mitral atresia, Muscular ventr... OMIM:619503
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis, Atrial septal defect, Hypercholesterolemia OMIM:619471
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Mitral valve calcification, Hypercholesterolemia,... ORPHA:363618
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Platyspondyly, Nephrocalcinosis, Oligosacchariduria, Hyperaldosteronism, Renal ins... ORPHA:534
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Platyspondyly, Low-molecular-weight pro... OMIM:309000
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:607778
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Tetralogy of Fallot, H... OMIM:600001
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Abnormal urine potassium concentration, Xanthelasma, Hyponatremia, Hypercholester... ORPHA:275761
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Kyphosis ORPHA:2232
Turnpenny-Fry Syndrome
Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, Thor... OMIM:618371
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Sponastrime Dysplasia
Platyspondyly, Hypospadias, Abnormality of the vertebral column, Lumbar hyperlordosis, Biconcave ... ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Horseshoe kidney, Abnormal heart morphology, Lumbar hyperlordosis, Kyp... ORPHA:500150
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Hypercholesterolemia, Polyuria... OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dark urine, Hyperbilirubinemia, Ventricular septal defe... OMIM:619534
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria, Hyperlordosis ORPHA:73223
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Branchiooculofacial Syndrome
Renal cyst, Short neck, Hyperlordosis, Hypospadias, Kyphosis OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Steinert Myotonic Dystrophy
Insulin resistance, Dilated cardiomyopathy, Hyperinsulinemia, Hypercholesterolemia, Diabetes mell... ORPHA:273
Microphthalmia, Syndromic 1
Hypospadias, Renal hypoplasia, Hydroureter, Lumbar hyperlordosis, Kyphoscoliosis, Bicuspid aortic... OMIM:309800
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Myocardial steato... ORPHA:391665

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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RNF144A deficiency promotes PD-L1 protein stabilization and carcinogen-induced bladder tumorigenesis. Cancer letters (August 2021) Rnf144atm1a(KOMP)Wtsi PMC9420248
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rnf145em1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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