MCID: SCH072
MIFTS: 41

Scheuermann Disease

Categories: Rare diseases, Genetic diseases, Bone diseases

Aliases & Classifications for Scheuermann Disease

MalaCards integrated aliases for Scheuermann Disease:

Name: Scheuermann Disease 53 12 49 41
Scheuermann's Disease 12 72 14 69
Familial Scheuermann Juvenile Kyphosis 49 55
Familial Spinal Osteochondrosis 49 55
Familial Scheuermann Disease 49 55
Juvenile Osteochondrosis of Scheurermann 12
[x]spinal Osteochondrosis, Unspecified 69
Juvenile Osteochondritis of the Spine 12
Juvenile Osteochondrosis of Spine 12
Scheuermann Juvenile Kyphosis 53
Spinal Osteochondrosis 53
Scheuermann's Kyphosis 12
Scheuermann Kyphosis 49
Sherman's Disease 12
Juvenile Kyphosis 49

Characteristics:

Orphanet epidemiological data:

55
familial scheuermann disease
Inheritance: Autosomal dominant; Age of onset: Adolescent;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
scheuermann disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 181440
Disease Ontology 12 DOID:13300
ICD10 32 M42.0 M42.00 M42
ICD9CM 34 732.0
MeSH 41 D012544
NCIt 46 C34999
Orphanet 55 ORPHA3135
UMLS via Orphanet 70 C0036310
ICD10 via Orphanet 33 M42.0
MedGen 39 C0036310
SNOMED-CT via HPO 65 263681008 414564002

Summaries for Scheuermann Disease

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3135Disease definitionFamilial 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.Visit the Orphanet disease page for more resources. Last updated: 2/15/2007

MalaCards based summary : Scheuermann Disease, also known as scheuermann's disease, is related to sacral agenesis with vertebral anomalies and osteochondrosis, and has symptoms including kyphosis, abnormal form of the vertebral bodies and morbus scheuermann. An important gene associated with Scheuermann Disease is STRADA (STE20-Related Kinase Adaptor Alpha), and among its related pathways/superpathways are PI3K-Akt signaling pathway and ECM-receptor interaction. Affiliated tissues include thoracic vertebral column, bone and spinal cord.

OMIM : 53 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)

Disease Ontology : 12 An osteochondrosis that results_in abnormal bone growth and curvature located in thoracic vertebral column.

Wikipedia : 72 Scheuermann\'s disease is a self-limiting skeletal disorder of childhood. Scheuermann\'s disease... more...

Related Diseases for Scheuermann Disease

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 sacral agenesis with vertebral anomalies 10.3
2 osteochondrosis 10.0
3 bone mineral density quantitative trait locus 15 9.7
4 episodic pain syndrome, familial, 1 9.7
5 scoliosis 9.7
6 idiopathic scoliosis 9.7
7 cervicitis 9.7
8 lipomatosis 9.7
9 ischemia 9.7
10 back pain 9.7
11 bone deterioration disease 9.7 COL2A1 COL9A3
12 stickler syndrome 9.7 COL2A1 COL9A3
13 spinal stenosis 9.6 COL2A1 COL9A3
14 bone structure disease 9.6 COL2A1 COL9A3
15 multiple epiphyseal dysplasia 9.4 COL2A1 COL9A3

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

Symptoms via clinical synopsis from OMIM:

53
Spine:
scheuermann juvenile kyphosis

Radiology:
spinal osteochondrosis


Clinical features from OMIM:

181440

Human phenotypes related to Scheuermann Disease:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002808
2 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
3 morbus scheuermann 31 HP:0010891

Drugs & Therapeutics for Scheuermann Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Scheuermann's Kyphosis Completed NCT00738309
2 Multicenter Retrospective Evaluation of the Surgical Management of Spinal Growth Dystrophy Completed NCT02904681

Search NIH Clinical Center for Scheuermann Disease

Cochrane evidence based reviews: scheuermann disease

Genetic Tests for Scheuermann Disease

Anatomical Context for Scheuermann Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Scheuermann Disease:

18
Thoracic Vertebral Column

MalaCards organs/tissues related to Scheuermann Disease:

38
Bone, Spinal Cord

Publications for Scheuermann Disease

Articles related to Scheuermann Disease:

(show top 50) (show all 101)
# Title Authors Year
1
Spinal cord ischemia in Scheuermann disease: A report of three cases. ( 28131733 )
2017
2
Familial lumbar Scheuermann disease with idiopathic scoliosis in China: First case report. ( 28640085 )
2017
3
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
4
Radiological imaging findings of scheuermann disease. ( 27928471 )
2016
5
Improvement of clinical and radiographical presentation of Scheuermann disease after Schroth therapy treatment. ( 25892377 )
2015
6
Cervical Sagittal Alignment in Scheuermann Disease. ( 26536439 )
2015
7
Vertebral Scheuermann's disease in Europe: prevalence, geographic variation and radiological correlates in men and women aged 50 and over. ( 26021761 )
2015
8
Scheuermann's disease (dysostosis) of the spine. ( 25611402 )
2015
9
Radiological signs of Scheuermann disease and low back pain: retrospective categorization of 188 hospital staff members with 6-year follow-up. ( 24979145 )
2014
10
Scheuermann's disease: an update. ( 24468666 )
2014
11
Radiographic spinopelvic parameters in skeletally mature patients with Scheuermann disease. ( 24921842 )
2014
12
Comparison between two types of "Scheuermann disease-like people": thoracolumbar disc herniation patients and healthy volunteers with radiological signs of Scheuermann's disease. ( 25421181 )
2014
13
Comparison of radiographic sagittal spinopelvic alignment between skeletally immature and skeletally mature individuals with Scheuermann's disease. ( 25281331 )
2014
14
Scheuermann's disease: Current diagnosis and treatment approach. ( 24898440 )
2014
15
There are only minor changes in quality of life in patients with Scheuermann's disease. ( 24814911 )
2014
16
Scheuermann disease: evaluation of radiological criteria and population prevalence. ( 24509552 )
2013
17
The relationship of symptomatic thoracolumbar disc herniation and Scheuermann's disease. ( 24241014 )
2013
18
Scheuermann's Disease: Evaluation of Radiological Criteria and Population Prevalence. ( 23759818 )
2013
19
Rapidly progressive Scheuermann's disease in an adolescent after pectus bar placement treated with posterior vertebral-column resection: case report and review of the literature. ( 23202355 )
2013
20
The mode of inheritance of Scheuermann's disease. ( 24102061 )
2013
21
Untreated Scheuermann's disease: a 37-year follow-up study. ( 22101868 )
2012
22
Spinal epidural lipomatosis: a common imaging feature in Scheuermann disease. ( 21705916 )
2012
23
Spinal extradural meningeal cyst and Scheuermann's disease: coincidence or causative factor? ( 22562192 )
2012
24
Scheuermann disease presenting as compressive myelopathy. ( 22508849 )
2012
25
Acutely progressing paraplegia caused by traumatic disc herniation through posterior Schmorl's node opening into the spinal canal in lumbar Scheuermann's disease. ( 21252826 )
2011
26
Genetic epidemiology of Scheuermann's disease. ( 21895506 )
2011
27
Scheuermann's Disease of the Thoracolumbar Spine in a Boy. ( 25610136 )
2010
28
Brace treatment for patients with Scheuermann's disease - a review of the literature and first experiences with a new brace design. ( 19788753 )
2009
29
Review of rehabilitation and orthopedic conservative approach to sagittal plane diseases during growth: hyperkyphosis, junctional kyphosis, and Scheuermann disease. ( 20032919 )
2009
30
Progressive spastic paraplegia: the combination of Scheuermann's disease, a short-segmented kyphosis and dysplastic thoracic spinous processes. ( 19002152 )
2009
31
A simple radiological method for recognizing osteoporotic thoracic vertebral compression fractures and distinguishing them from Scheuermann disease. ( 19680108 )
2009
32
Mortality in the presence of a vertebral fracture, scoliosis, or Scheuermann's disease in the thoracic spine. ( 18652976 )
2008
33
Scheuermann's disease: focus on weight and height role. ( 18301929 )
2008
34
The role of sternum in the etiopathogenesis of Scheuermann disease of the thoracic spine. ( 18165737 )
2008
35
The radiological reporting of lumbar Scheuermann's disease: an unnecessary source of confusion amongst clinicians and patients. ( 18440942 )
2008
36
Thoracic cord compression caused by disk herniation in Scheuermann's disease: a case report and review of the literature. ( 16421745 )
2006
37
Scheuermann's disease: the lumbar variant. ( 15166692 )
2004
38
Results of surgical treatment for kyphotic deformity of the spine secondary to trauma or Scheuermann's disease. ( 15481419 )
2004
39
The practical use of surface topography: following up patients with Scheuermann's disease. ( 12745894 )
2003
40
Scheuermann's disease as a model displaying the mechanism of venous obstruction in thoracic outlet syndrome and migraine patients: MRI and MRA. ( 12749621 )
2003
41
Epidemiology of Scheuermann's disease in children and adolescents. ( 18034106 )
2002
42
Effect of intensive rehabilitation on pain in patients with Scheuermann's disease. ( 15456045 )
2002
43
Clinical outcome and radiographic results after operative treatment of Scheuermann's disease. ( 12522714 )
2002
44
Analysis of the sagittal plane after surgical management for Scheuermann's disease: a view on overcorrection and the use of an anterior release. ( 11805663 )
2002
45
Classical Scheuermann disease in male monozygotic twins: further support for the genetic etiology hypothesis. ( 12436008 )
2002
46
Benefits of F.E.D. treatment in Scheuermann's disease. ( 15456047 )
2002
47
Scheuermann's disease of the lumbar spine in identical twins. ( 12239077 )
2002
48
Osteoporosis: A possible aetiological factor in the development of Scheuermann's disease. ( 12468838 )
2001
49
Surgical treatment of Scheuermann's disease with segmental compression instrumentation. ( 11347827 )
2001
50
Segregation analysis of Scheuermann disease in ninety families from Siberia. ( 11343318 )
2001

Variations for Scheuermann Disease

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
11.62 COL2A1 COL9A3 WNT10A
2
Show member pathways
11.13 COL2A1 COL9A3

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 collagen trimer GO:0005581 8.96 COL2A1 COL9A3
2 proteinaceous extracellular matrix GO:0005578 8.8 COL2A1 COL9A3 WNT10A

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 COL2A1 PAX1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL2A1 COL9A3

Sources for Scheuermann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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