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Gene: Kcnv2 MGI:2670981

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Gene Summary

Name:
potassium channel, subfamily V, member 2
Synonyms:
KV11.1

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
increased circulating amylase level Kcnv2tm1Wtsi HOM Early adult 6.60×10-08
kyphosis Kcnv2tm1Wtsi HOM Early adult 1.79×10-05
increased circulating magnesium level Kcnv2tm1Wtsi HOM Early adult 3.33×10-05

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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 Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Forepaw

17 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Legacy Phenotype Associated Images
Kcnv2tm1Wtsi
HOM, Female, WTSI
Kcnv2tm1Wtsi
HOM, Female, WTSI
Kcnv2tm1Wtsi
HOM, Female, WTSI
Kcnv2tm1Wtsi
HOM, Female, WTSI
Kcnv2tm1Wtsi
HOM, Female, WTSI

View all 79 images

Kcnv2tm1Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Kcnv2tm1Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Kcnv2 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.

The table below shows human diseases associated to Kcnv2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356

The table below shows human diseases predicted to be associated to Kcnv2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... OMIM:617404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... ORPHA:1578
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Winchester Syndrome
Kyphosis OMIM:277950
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis OMIM:618484
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis ORPHA:75840
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Myofibrillar Myopathy 10
Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... OMIM:615084
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Sandhoff Disease
Kyphosis ORPHA:796
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... OMIM:607155
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
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
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Alg1-Cdg
Kyphosis, Hypoalbuminemia, Scoliosis ORPHA:79327
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Scoliosis, Short neck OMIM:611890
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... ORPHA:352447
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase ORPHA:536516
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Scoliosis, Increase... OMIM:300280
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98855
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Abnormal circulating lipid concentration, Scoliosis, Short neck ORPHA:3191
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98863
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... ORPHA:485421
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98853
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... ORPHA:171436
Marinesco-Sjogren Syndrome
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:248800
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis ORPHA:352490
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity OMIM:254090
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Hyperuricemia ORPHA:261222
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hypertriglyceridemia, Scoliosis OMIM:615381
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Sialidosis Type 2
Kyphosis ORPHA:87876
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Sacral dimple, Thoracolumbar scoliosis, Hyperlordosis, Hypocalcemia, Hypomagnesemia OMIM:619503
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Mildly elevated creatine kinase OMIM:620351
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Hypokalemia, Biconcave vertebral bodies OMIM:219090
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Hypocalcemia OMIM:618476
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Schaaf-Yang Syndrome
Kyphosis, Scoliosis OMIM:615547
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
19P13.12 Microdeletion Syndrome
Kyphosis, Hyperlipidemia, Scoliosis, Short neck ORPHA:254346
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis OMIM:300354
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
15Q24 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:94065
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:253220
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperuricemia, Scoliosis OMIM:203800
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypercholesterolemia, Scoliosis ORPHA:2479
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Abnormal circulating creatine kinase concentration, Scoliosis ORPHA:2215
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Hypercalcemia, Scoliosis ORPHA:476126
Harrod Syndrome
Kyphosis, Scoliosis ORPHA:2115
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:354
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Mucopolysaccharidosis Type 6
Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis ORPHA:364028
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Emanuel Syndrome
Kyphosis, Sacral dimple, Scoliosis OMIM:609029
Marden-Walker Syndrome
Kyphosis, Scoliosis, Short neck OMIM:248700
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Trisomy 20P
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... ORPHA:261318
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Cockayne Syndrome Type 2
Kyphosis, Scoliosis ORPHA:90322
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis OMIM:619951
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Scoliosis, Short neck ORPHA:85293
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... OMIM:607014
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... ORPHA:800
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis OMIM:610443
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis ORPHA:536532
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Distal Triplication 15Q
Kyphosis, Scoliosis ORPHA:314588
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis OMIM:617602
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
2P15P16.1 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261349
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Scoliosis ORPHA:500055
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef... OMIM:265000
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... OMIM:309000
Mucopolysaccharidosis, Type Ii
Kyphosis, Short neck OMIM:309900
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
2Q31.1 Microdeletion Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck ORPHA:251014
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Scoliosis, Short neck OMIM:618223
Alexander Disease
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:58
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Thoracic kyphos... OMIM:602535
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Cohen Syndrome
Kyphosis, Scoliosis ORPHA:193
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly ORPHA:1855
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Weaver Syndrome
Kyphosis, Scoliosis OMIM:277590
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis ORPHA:464738
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Scoliosis ORPHA:398069
Mgat2-Cdg
Kyphosis, Scoliosis ORPHA:79329
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Mend Syndrome
Kyphosis, Sacral dimple, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol ORPHA:401973
Prader-Willi Syndrome
Kyphosis, Scoliosis OMIM:176270
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Cdags Syndrome
Kyphosis OMIM:603116
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Kyphosis, Platyspondyly, Hypokalemia, Scoliosis, Hypophosphatemia, H... ORPHA:534
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Short neck ORPHA:77301
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis OMIM:617527
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1507
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis OMIM:619005
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the vertebral colu... ORPHA:280
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464311
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies ORPHA:955
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464306
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Elevated circulating 7-dehydrocholes... ORPHA:818
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Classic Homocystinuria
Kyphosis, Scoliosis ORPHA:394
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervical spinal canal stenosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervical spinal canal stenosis ORPHA:363958
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Scoliosis, Short neck OMIM:619194
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2911
Marden-Walker Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis ORPHA:3063
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Kyphosis, Abnormal curvature of the vertebral column, Hyperbilirubinemia, Scoliosis OMIM:619475
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Camurati-Engelmann Disease
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis ORPHA:1328
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Cockayne Syndrome
Kyphosis, Hyperuricemia, Scoliosis ORPHA:191
Cockayne Syndrome Type 3
Kyphosis, Scoliosis ORPHA:90324
Zttk Syndrome
Kyphosis, Hemivertebrae, Scoliosis OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300967
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Kyphosis, Sacral dimple, Scoliosis ORPHA:268261
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Scoliosis ORPHA:2658
Williams Syndrome
Sacral dimple, Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating crea... ORPHA:904
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Mucolipidosis Type Ii
Kyphosis ORPHA:576
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Marfan Syndrome
Kyphosis, Scoliosis, Spondylolisthesis ORPHA:558
Cockayne Syndrome B
Kyphosis OMIM:133540
Cockayne Syndrome A
Kyphosis OMIM:216400
Cowden Syndrome
Kyphosis, Scoliosis ORPHA:201
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis OMIM:194190
1P36 Deletion Syndrome
Kyphosis, Spinal canal stenosis, Scoliosis ORPHA:1606
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:2273
Coffin-Siris Syndrome 1
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:135900
Neurofibromatosis Type 1
Kyphosis, Scoliosis ORPHA:636
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Scoliosis, Short neck ORPHA:99413
Turner Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:881
Mosaic Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99228
Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99226
Acromegaly
Kyphosis, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Spinal canal stenosis ORPHA:314769
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis ORPHA:97685
Proteus Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:744
Sotos Syndrome
Sacrococcygeal teratoma, Hypercalcemia, Kyphosis, Scoliosis, Abnormal vertebral morphology ORPHA:821
Primrose Syndrome
Kyphosis, Posterior scalloping of vertebral bodies, Elevated circulating alpha-fetoprotein concen... OMIM:259050
Wrinkly Skin Syndrome
Kyphosis, Scoliosis OMIM:278250
Viss Syndrome
Kyphosis, Butterfly vertebrae, Scoliosis OMIM:619472
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Short neck OMIM:113620
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Lumbar scoliosis ORPHA:64

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 Kcnv2

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 Kcnv2.

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MGI Allele Allele Type Produced
Kcnv2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kcnv2tm1Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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