MCID: SCH072
MIFTS: 45

Scheuermann Disease

Categories: Bone diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Scheuermann Disease

MalaCards integrated aliases for Scheuermann Disease:

Name: Scheuermann Disease 57 11 19 43 38
Scheuermann's Disease 11 75 14 71
Juvenile Osteochondrosis of Spine 11 5 31
Spinal Osteochondrosis 57 16 31
Juvenile Osteochondrosis of Scheurermann 11
Familial Scheuermann Juvenile Kyphosis 19
[x]spinal Osteochondrosis, Unspecified 71
Juvenile Osteochondritis of the Spine 11
Familial Spinal Osteochondrosis 19
Scheuermann Juvenile Kyphosis 57
Familial Scheuermann Disease 19
Scheuermann's Kyphosis 11
Scheuermann Kyphosis 19
Sherman's Disease 11
Juvenile Kyphosis 19

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:13300
OMIM® 57 181440
ICD9CM 34 732.0
MeSH 43 D012544
NCIt 49 C34999
SNOMED-CT 68 53406005
ICD10 31 M42 M42.0 M42.9
MedGen 40 C0036310
SNOMED-CT via HPO 69 19579005 414564002
UMLS 71 C0036310 C0477611

Summaries for Scheuermann Disease

GARD: 19 Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.

MalaCards based summary: Scheuermann Disease, also known as scheuermann's disease, is related to osteochondrosis and spinal stenosis. An important gene associated with Scheuermann Disease is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. The drugs Cholecalciferol and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include thoracic vertebral column, bone and spinal cord, and related phenotypes are kyphosis and abnormal form of the vertebral bodies

OMIM®: 57 Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992). (181440) (Updated 08-Dec-2022)

Disease Ontology: 11 An osteochondrosis that results in abnormal bone growth and curvature located in thoracic vertebral column.

Wikipedia: 75 Scheuermann's disease is a self-limiting skeletal disorder of childhood. Scheuermann's disease describes... more...

Related Diseases for Scheuermann Disease

Diseases related to Scheuermann Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 30.4 COL9A3 COL2A1
2 spinal stenosis 29.9 COL9A3 COL2A1 COL1A2
3 spondyloepiphyseal dysplasia with congenital joint dislocations 29.6 FLNB COL9A3 COL2A1
4 scoliosis 29.1 PAX1 FLNB COL2A1 COL1A2 C17orf67
5 paine syndrome 10.5
6 charge syndrome 10.2
7 hypochondrogenesis 10.2 COL9A3 COL2A1
8 fibrochondrogenesis 1 10.2 COL9A3 COL2A1
9 fibrochondrogenesis 10.2 COL9A3 COL2A1
10 vitreous syneresis 10.2 COL9A3 COL2A1
11 bone mineral density quantitative trait locus 15 10.2
12 paraplegia 10.2
13 virus-associated trichodysplasia spinulosa 10.2
14 retinal perforation 10.2 COL9A3 COL2A1
15 kniest dysplasia 10.2 COL9A3 COL2A1
16 idiopathic scoliosis 10.2
17 spinal disease 10.2
18 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.2 COL9A3 COL2A1
19 marshall syndrome 10.2 COL9A3 COL2A1
20 tarsal tunnel syndrome 10.1 MED31 GNPTAB
21 osteochondritis dissecans 10.1 COL9A3 COL2A1
22 osteoporosis 10.1
23 intervertebral disc disease 10.1
24 bone mineral density quantitative trait locus 8 10.1
25 tibial neuropathy 10.1 MED31 GNPTAB
26 spondyloepiphyseal dysplasia congenita 10.1 COL9A3 COL2A1
27 legg-calve-perthes disease 10.1 GNPTAB COL2A1
28 trichohepatoenteric syndrome 1 10.1
29 back pain 10.1
30 primary bone dysplasia 10.1 COL2A1 COL1A2
31 oculodentodigital dysplasia 10.1
32 schopf-schulz-passarge syndrome 10.1
33 ataxia with vitamin e deficiency 10.1
34 bacteremia 2 10.1
35 toxic shock syndrome 10.1
36 anterior spinal artery syndrome 10.1
37 lung disease 10.1
38 median arcuate ligament syndrome 10.1
39 spondylosis 10.1
40 radiculopathy 10.1
41 diastrophic dysplasia 10.1 COL9A3 COL2A1
42 spondylolisthesis 10.1
43 ceroid lipofuscinosis, neuronal, 5 10.1
44 enterocele 10.1
45 dysostosis 10.1
46 spondylolysis 10.1
47 pneumothorax, primary spontaneous 10.1
48 polykaryocytosis inducer 10.1
49 body mass index quantitative trait locus 1 10.1
50 bone disease 10.1

Comorbidity relations with Scheuermann Disease via Phenotypic Disease Network (PDN):


Osteoporosis

Graphical network of the top 20 diseases related to Scheuermann Disease:



Diseases related to Scheuermann Disease

Symptoms & Phenotypes for Scheuermann Disease

Human phenotypes related to Scheuermann Disease:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 30 Hallmark (90%) HP:0002808
2 abnormal form of the vertebral bodies 30 Hallmark (90%) HP:0003312
3 osteochondrosis 30 HP:0040188
4 morbus scheuermann 30 HP:0010891

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Spine:
scheuermann juvenile kyphosis

Radiology:
spinal osteochondrosis

Clinical features from OMIM®:

181440 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Scheuermann Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 COL1A2 COL2A1 COL9A3 CUL4B FLNB GNPTAB
2 growth/size/body region MP:0005378 9.65 ADAMTS18 COL1A2 COL2A1 COL9A3 CUL4B FLNB
3 craniofacial MP:0005382 9.1 COL2A1 FLNB GNPTAB MED31 PAX1 STRADA

Drugs & Therapeutics for Scheuermann Disease

Drugs for Scheuermann Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
2 Vitamins
3 Calciferol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Polymorphisms in the Vitamin D Receptor and Involved in Inflammation Associated With Vertebral Osteochondrosis Unknown status NCT04195529
2 Prospective Study of Scheuermann's Kyphosis Completed NCT00738309
3 Sling Suspension Versus Gym Balls in the Treatment of Juvenile Spinal Osteochondrosis in Adolescent Girls Completed NCT03851367
4 The Effect of Rıgıd Brace on Spinopelvic Parameters and GAP Score in Adolescents With Structural Hyperkyphosis Recruiting NCT04924556
5 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Personalized Spine Study Group (PSSG) Registry of Patients With Personalized Spine Rod Implantation Recruiting NCT04601363
7 Comparison of Facilitatory Kinesiology Taping With Combined Inhibitory and Facilitatory Kinesiology Taping Among University Students With Calf Tightness Not yet recruiting NCT05434780
8 Personalized Spine Study Group Registry Withdrawn NCT03843476

Search NIH Clinical Center for Scheuermann Disease

Cochrane evidence based reviews: scheuermann disease

Genetic Tests for Scheuermann Disease

Anatomical Context for Scheuermann Disease

Organs/tissues related to Scheuermann Disease:

FMA: Thoracic Vertebral Column
MalaCards : Bone, Spinal Cord, Heart, Pituitary, Lung

Publications for Scheuermann Disease

Articles related to Scheuermann Disease:

(show top 50) (show all 807)
# Title Authors PMID Year
1
Segregation analysis of Scheuermann disease in ninety families from Siberia. 62 57
11343318 2001
2
Familial Scheuermann disease: a genetic and linkage study. 62 57
1552543 1992
3
Dominant inheritance of Scheuermann's juvenile kyphosis. 62 57
2738903 1989
4
Juvenile kyphosis in identical twins. 62 57
6766635 1980
5
Dominant inheritance of Scheuermann's juvenile kyphosis. 62 57
717319 1978
6
Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome. 57
949237 1976
7
Scheuermann's kyphosis: update on pathophysiology and surgical treatment. 62
36475554 2022
8
The Extension of Surgery Predicts Acute Postoperative Pain, While Persistent Postoperative Pain Is Related to the Spinal Pathology in Adolescents Undergoing Posterior Spinal Fusion. 62
36360457 2022
9
Risk of distal junctional kyphosis in scheuermann's kyphosis is decreased by selecting the LIV as two vertebrae distal to the first lordotic disc. 62
35840788 2022
10
In Scheuermann's kyphosis, a proximal UIV and postop kyphosis value close to patients' PI decreases the risk of PJK. 62
35389165 2022
11
Health-related quality of life outcomes in adolescent Scheuermann's kyphosis patients treated with posterior spinal fusion: A comparison with age- and sex-matched controls. 62
35992515 2022
12
Issues With Big Data: Variability in Reported Demographics and Complications Associated With Posterior Spinal Fusion in Pediatric Patients. 62
35667050 2022
13
Selection of the optimal distal fusion level for Scheuermann kyphosis with different curve patterns: when can we stop above the sagittal stable vertebra? 62
35039966 2022
14
The Italian Spine Youth Quality of Life questionnaire: reliability and validity of the Persian version in adolescents with spinal deformities. 62
35089545 2022
15
Effect of the type of brace on head to pelvis sagittal alignment of adolescents with Scheuermann's kyphosis. 62
35882059 2022
16
Combined surgical correction of pectus carinatum and juvenile kyphosis. 62
35381072 2022
17
The Hereditary Nature of Adolescent Spinal Deformities: A Study of Over 600,000 Adolescents. 62
35472202 2022
18
Assessment of Quality of Life for Scheuermann's Kyphosis Patients with Cobb's Angle 50°-65° Treated Conservatively or Surgically in North Jordan: A Prospective Comparative Study. 62
35685985 2022
19
Scheuermann Kyphosis Patients Have a Similar Revision and Infection Rate to Adolescent Idiopathic Scoliosis Patients. 62
34593730 2022
20
[Scheuermann's disease]. 62
35290495 2022
21
Assessing a child or adolescent with low back pain is different to assessing an adult with low back pain. 62
35218582 2022
22
Correction to: Long-term outcome after surgical treatment of Scheuermann's Kyphosis (SK). 62
34787771 2022
23
Long-term outcome after surgical treatment of Scheuermann's Kyphosis (SK). 62
34533775 2022
24
Complications Following Surgery for Adult Scheuermann's Kyphosis: A 2-Year Follow-Up in 22 Patients. 62
35416264 2022
25
Sling suspension therapy is an effective treatment method of juvenile spinal osteochondrosis in adolescent girls. 62
34744069 2022
26
Osteochondrosis and other lesions in all intervertebral, articular process and rib joints from occiput to sacrum in pigs with poor back conformation, and relationship to juvenile kyphosis. 62
35042517 2022
27
Prevalence of idiopathic scoliosis in athletes: a systematic review and meta-analysis. 62
35999823 2022
28
Evaluation of changes in kyphosis angle, apex and quality of life of patients with Scheuermann kyphosis using Kyphologic brace. 62
35891934 2022
29
Disease-Specific Outcome Measures Evaluating the Health-Related Quality of Life of Children and Adolescents with Idiopathic Scoliosis and Scheuermann's Kyphosis: A Literature Review. 62
35800626 2022
30
Freehand Pedicle Screw Insertion in Spondylitis Tuberculosis Kyphosis Correction Using Cantilever Method: A Breach Rate Analysis of 168 Consecutive Screws. 62
35115848 2022
31
Surgical management of thoracic myelopathy from long-segment epidural lipomatosis with skip hemilaminotomies: illustrative case. 62
35855484 2021
32
Long-term follow-up of untreated Scheuermann's kyphosis. 62
34212306 2021
33
Infection Recurrence in Instrumented Spinal Fusion in Children. 62
32783471 2021
34
Sagittal Plane Alignment and Functional Outcomes Following Surgery for Scheuermann Kyphosis. 62
34483387 2021
35
Contribution of postoperative vertebral remodeling to reversal of vertebral wedging and prevention of correction loss in patients with adolescent Scheuermann's kyphosis. 62
34330099 2021
36
Lumbar Scheuermann's disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report. 62
34098919 2021
37
The variability in location of the most prominent points on the posterior torso of those without abnormal surface topography, those with Adolescent Idiopathic Scoliosis and those with Scheuermann's Kyphosis: a seven year longitudinal analysis. 62
33305353 2021
38
Relationship between Scheuermann disease and symptomatic thoracic spinal stenosis: A retrospective study. 62
34100367 2021
39
Late spinal infections following posterior spinal fusion in pediatric deformities: treatment using single-stage titanium implant exchange. 62
33403657 2021
40
Polish Adaptation of the Italian Spine Youth Quality of Life Questionnaire. 62
34066225 2021
41
Length of stay, readmission, and mortality after primary surgery for pediatric spinal deformities: a 10-year nationwide cohort study. 62
33429087 2021
42
Revision risk after pediatric spinal deformity surgery: a nationwide study with 2-year follow-up. 62
33340758 2021
43
Maria Adelaide brace in the management of Scheuermann's Kyphosis. 62
33206353 2021
44
The resting coronal and sagittal stance position of the torso in adolescents with and without spinal deformity. 62
33504872 2021
45
The surgical treatment of severe Scheuermann's kyphosis. 62
33380189 2021
46
Surgical Procedures Used for Correction of Scheuermann's Kyphosis: A Meta-Analysis. 62
34725561 2021
47
Is there an indication for surgery in patients with spinal deformities? - A critical appraisal. 62
34859161 2021
48
Posterior-only versus combined anterior-posterior fusion in Scheuermann disease: a systematic review and meta-analysis. 62
33361485 2020
49
Sternoclavicular dislocation as a possible complication for surgical Scheuermann's deformity correction: a case report. 62
31486899 2020
50
Intraoperative Prone Radiographs During Scheuermann Kyphosis Correction Closely Estimate Standing Thoracic and Lumbar Parameters at 2 Years. 62
32379246 2020

Variations for Scheuermann Disease

ClinVar genetic disease variations for Scheuermann Disease:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNPTAB NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) SNV Likely Pathogenic
39035 rs281864980 GRCh37: 12:102159967-102159967
GRCh38: 12:101766189-101766189

Expression for Scheuermann Disease

Search GEO for disease gene expression data for Scheuermann Disease.

Pathways for Scheuermann Disease

Pathways related to Scheuermann Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 STRADA COL9A3 COL2A1 COL1A2
2 11.73 FLNB COL2A1 COL1A2
3
Show member pathways
11.57 COL9A3 COL2A1 COL1A2 ADAMTS18
4
Show member pathways
11.35 COL9A3 COL2A1 COL1A2
5 10.63 COL2A1 COL1A2

GO Terms for Scheuermann Disease

Cellular components related to Scheuermann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.56 COL9A3 COL2A1 COL1A2 ADAMTS18
2 collagen trimer GO:0005581 8.92 COL9A3 COL2A1 COL1A2

Biological processes related to Scheuermann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.23 COL9A3 COL2A1 COL1A2 ADAMTS18

Molecular functions related to Scheuermann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 9.26 COL2A1 COL1A2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL9A3 COL2A1 COL1A2

Sources for Scheuermann Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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