banner
Genes Phenotypes Help, News, Blog

Gene: Rnf14 MGI:1929668

Log in to follow

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
preweaning lethality, incomplete penetrance Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00
decreased heart weight Rnf14em1(IMPC)Ccpcz HOM Early adult 2.27×10-07
abnormal kidney morphology Rnf14em1(IMPC)Ccpcz HOM Early adult 0.00
lordosis Rnf14em1(IMPC)Ccpcz HOM   Early adult 2.13×10-06
increased fasting circulating glucose level Rnf14em1(IMPC)Ccpcz HOM Early adult 3.84×10-05
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
X-ray

XRay Images Hind Leg and Hip

28 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

28 Images

View images

Human diseases caused by Rnf14 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rnf14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... OMIM:300718
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... OMIM:255600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... OMIM:617404
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis ORPHA:408
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dil... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal ... OMIM:609308
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... ORPHA:577
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Myopathy, Distal, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left atrial enlargement... OMIM:160500
Rigid Spine Syndrome
Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Atrial septal defect, Hype... OMIM:620211
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:62
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Nephrotic syndrome, Type I diabetes mellitus, Abnormal mitral valve m... ORPHA:1192
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, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Mildly elevated creatine kinase OMIM:161800
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... OMIM:252605
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
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
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Insu... OMIM:615980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae OMIM:222600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:618129
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Abnormality of the cervical spine OMIM:307500
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis OMIM:620389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Left ventricular hy... OMIM:613156
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:267
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis ORPHA:3085
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Scoliosis, Hyperlordosis OMIM:617352
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:615156
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... OMIM:607155
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Ck Syndrome
Abnormal circulating cholesterol concentration, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Cardio... ORPHA:86812
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Renal hypoplasia, Recurrent hypoglycem... OMIM:616817
Myasthenic Syndrome, Congenital, 14
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Right ventricular dilatation, ... OMIM:253700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Thickened aortic valve cusp, Hyperlordosis, Nephrolithiasis, Dermata... OMIM:619698
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... OMIM:619542
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:269
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... OMIM:606612
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98863
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis OMIM:618363
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:261
Mucopolysaccharidosis, Type Iva
Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of... OMIM:253000
Myopathy, Centronuclear, 1
Mildly elevated creatine kinase, Hyperlordosis OMIM:160150
Nemaline Myopathy 2
Spinal rigidity, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:256030
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:613157
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Right ventri... ORPHA:353
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Oculoskeletodental Syndrome
Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Thoracic kyphosis, Hypocalcemia, Scoliosis ORPHA:557003
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase ORPHA:536516
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:167320
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol... ORPHA:1159
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Cervical kyphosis, Short neck, Dilated cardiomyopathy, Renovascular hypert... ORPHA:401923
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlordosis, Elevated circula... ORPHA:26791
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hyperlordosis, Cardiomyopathy, Abnormality of... ORPHA:52430
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Scoliosis ORPHA:254531
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis OMIM:255310
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis OMIM:617450
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis OMIM:619980
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:611588
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Atrial septal defec... OMIM:618870
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac... ORPHA:3041
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:435387
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Urinary incontinence, S... OMIM:617114
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... ORPHA:171436
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Hyperlordosis, Dilated cardiomyopathy, Cardio... OMIM:310200
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ... OMIM:620249
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Kyphoscoliosis, Minimal chan... OMIM:618348
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Abnormal heart valve morphology, Hyperlordosis ORPHA:169186
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis ORPHA:353327
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circulating creatin... OMIM:255800
Three M Syndrome 1
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta OMIM:273750
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Abnormal circulating creatine kinase concentration, Hyperlordosis ORPHA:369840
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Cardiomegaly,... ORPHA:268
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young, Scoliosis OMIM:616222
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... OMIM:262190
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabete... OMIM:226980
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Increased level of galac... ORPHA:79237
Stiff Person Spectrum Disorder
Diabetes mellitus, Lumbar hyperlordosis ORPHA:3198
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Three M Syndrome 3
Increased vertebral height, Hyperlordosis, Short neck OMIM:614205
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Hyperlordosis, Scoliosis, Mitral valve prolapse OMIM:300986
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl... OMIM:613327
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia ORPHA:633
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Gm1 Gangliosidosis
Ventricular septal defect, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Abnorm... ORPHA:354
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, Abnormal heart morphology OMIM:182290
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2789
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Myotonia Permanens
Hyperlordosis ORPHA:99735
Joubert Syndrome 37
Micropenis, Lumbar hyperlordosis, Hydronephrosis OMIM:619185
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis OMIM:114300
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis OMIM:208920
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly, Anterior beak... OMIM:230000
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Hyperlordosis, Hypoplasia of the odontoid process, Spinal canal stenosis, Coronal c... OMIM:616007
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ... OMIM:607095
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Minimal change glomerulone... ORPHA:1830
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hyperlordosis OMIM:600462
Congenital Generalized Lipodystrophy
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... ORPHA:528
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse ORPHA:171881
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... ORPHA:69076
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Hydronephrosis ORPHA:568
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hyperlordosis ORPHA:3068
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Scoliosis ORPHA:96184
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Schimke Immunoosseous Dysplasia
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage... OMIM:242900
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:370959
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse OMIM:216550
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Mitral valve prolapse ORPHA:2848
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis ORPHA:254854
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Scoliosis, Short neck OMIM:615065
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Abnormal heart... ORPHA:505248
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Short neck, Hyperlordosi... ORPHA:175
Stiff-Person Syndrome
Diabetes mellitus, Lumbar hyperlordosis OMIM:184850
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia ORPHA:77296
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platyspondyly, Neonatal death OMIM:616482
Distal Deletion 10Q
Lumbar hyperlordosis, Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe kid... ORPHA:96148
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis OMIM:613385
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur... ORPHA:573278
Bethlem Myopathy
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity ORPHA:610
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... OMIM:272460
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
Chromosome 10Q26 Deletion Syndrome
Lumbar hyperlordosis, Short neck, Vesicoureteral reflux, Atrial septal defect, Micropenis OMIM:609625
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Scoliosis... ORPHA:819
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
3Mc Syndrome
Hyperlordosis, Prominent coccyx, Scoliosis, Spina bifida occulta, Caudal appendage ORPHA:293843
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... ORPHA:800
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia ORPHA:90065
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... OMIM:607944
Alexander Disease
Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:58
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Prominent protruding coccyx, Hydronephrosis, Abnormal form of the vertebral... ORPHA:2839
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hyperlordosis ORPHA:3253
Martsolf Syndrome 1
Cardiomyopathy, Thoracic scoliosis, Lumbar hyperlordosis, Micropenis OMIM:212720
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyo... ORPHA:264580
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:277600
Nail-Patella Syndrome
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Hematuria,... OMIM:161200
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Hyperlordosis, Kyph... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Hyperlordosis, Kyph... ORPHA:363958
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat... ORPHA:2298
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Increased LDL c... ORPHA:412
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Lumbar kyphosis OMIM:619234
Nail-Patella Syndrome
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Stage 5 chronic kidney disease... ORPHA:2614
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Lumbar hyperlordosis, Glandular hypospadias ORPHA:1439
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Highly elevated creatine kinase, Scoliosis, Hyperlordosis ORPHA:258
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Micropenis, Lumbar hyperlordosis, Ventricular septal defect, Short neck ORPHA:251028
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... OMIM:619636
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Elevated urinary epinephrine level, Scoliosis, Hyperlordosis OMIM:162300
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Hyperlordosis, Cardiomegaly, Oligosaccharidur... ORPHA:365
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... OMIM:271510
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypercholesterolemia, Scoliosis ORPHA:2479
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Ventricular septal defect, Mitral stenosis, Tricus... OMIM:143095
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... OMIM:250250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615356
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Hyperlordosis ORPHA:221139
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis OMIM:602471
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Hyperlordosis ORPHA:261330
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... OMIM:248370
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Abnormal heart morphology OMIM:305450
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Mitral valve... ORPHA:363700
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Elevated urin... ORPHA:653
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Helsmoortel-Van Der Aa Syndrome
Hyperlordosis, Mitral valve prolapse, Abnormal heart morphology, Enuresis nocturna, Scoliosis, At... OMIM:615873
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis ORPHA:2020
Frontorhiny
Lumbar hyperlordosis, Scoliosis ORPHA:391474
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Hyperlordosis OMIM:301066
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Camurati-Engelmann Disease
Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Urinary retention, Scoliosis, Hyper... ORPHA:1328
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:608328
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, Ventricular septal defect, Hypospadias, Renal cyst, Scoliosis, Vesicoureter... OMIM:616975
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... ORPHA:79259
Alagille Syndrome 1
Hypertriglyceridemia, Ventricular septal defect, Multiple small medullary renal cysts, Hemiverteb... OMIM:118450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Short neck, Hyperlordosis, Unilateral renal hypoplasia, Scoliosis OMIM:619950
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Micropenis, Neonatal hypoglycemia ORPHA:457359
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Lumbar hyperlordosis, Scoliosis ORPHA:522077
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Incr... ORPHA:90041
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Sacral dimple, Ventricular septal defect, Mitral atresia, Thoracolumbar scoliosis, Hyperlordosis,... OMIM:619503
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Bardet-Biedl Syndrome 20
Atrial septal defect, Hypercholesterolemia, Micropenis, Proteinuria OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypercalciuria, Renal insufficiency, Proteinuria, Hypoammonemia, Kyphosis, Proximal... ORPHA:534
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Hypercholesterolemia, ... ORPHA:363618
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect,... OMIM:600001
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... ORPHA:275761
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, A... OMIM:618371
Sponastrime Dysplasia
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspo... ORPHA:93357
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Unilateral renal agenesis, Hemivertebrae, Horseshoe kidney,... ORPHA:500150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... OMIM:619534
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intoleran... OMIM:606721
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria, Hyperlordosis ORPHA:73223
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Branchiooculofacial Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Renal cyst OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Steinert Myotonic Dystrophy
Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Hyperinsulinemia, Hypercholesterol... ORPHA:273
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Hypospadias, Bicuspid aortic valve, Kyphoscoliosis, Hydroureter, Renal hypo... OMIM:309800
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter