MCID: SCH072
MIFTS: 36

Scheuermann Disease malady

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Scheuermann Disease

Aliases & Descriptions for Scheuermann Disease:

Name: Scheuermann Disease 54 12 50 42
Scheuermann's Disease 12 14 69
Familial Scheuermann Juvenile Kyphosis 50 56
Familial Spinal Osteochondrosis 50 56
Familial Scheuermann Disease 50 56
Juvenile Osteochondrosis of Scheurermann 12
Juvenile Osteochondritis of the Spine 12
Juvenile Osteochondrosis of Spine 12
Scheuermann's Kyphosis 12
Scheuermann Kyphosis 50
Sherman's Disease 12
Juvenile Kyphosis 50

Characteristics:

Orphanet epidemiological data:

56
familial scheuermann disease
Inheritance: Autosomal dominant; Age of onset: Adolescent;

HPO:

32
scheuermann disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 181440
Disease Ontology 12 DOID:13300
ICD10 33 M42.0 M42.00 M42
ICD9CM 35 732.0
MeSH 42 D012544
NCIt 47 C34999
Orphanet 56 ORPHA3135
ICD10 via Orphanet 34 M42.0
UMLS 69 C0036310

Summaries for Scheuermann Disease

OMIM : 54 Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral... (181440) more...

MalaCards based summary : Scheuermann Disease, also known as scheuermann's disease, is related to scoliosis and idiopathic scoliosis, 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 is ECM-receptor interaction. The drugs Rivaroxaban and Menadione have been mentioned in the context of this disorder. Affiliated tissues include bone and thoracic vertebral column.

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

Related Diseases for Scheuermann Disease

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

id Related Disease Score Top Affiliating Genes
1 scoliosis 10.0
2 idiopathic scoliosis 9.9
3 adolescent idiopathic scoliosis 9.9
4 physical disorder 9.9 COL2A1 COL9A3
5 charcot-marie-tooth disease type 5 9.8 COL2A1 COL9A3
6 intermediate uveitis 9.7 COL2A1 COL9A3
7 cervicitis 9.7
8 lipomatosis 9.7
9 back pain 9.7
10 vater/vacterl association 9.1 COL2A1 COL9A3 CUL4B PAX1 STRADA WNT10A

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 by clinical synopsis from OMIM:

181440

Clinical features from OMIM:

181440

Human phenotypes related to Scheuermann Disease:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 56 32 Very frequent (99-80%) HP:0002808
2 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
3 morbus scheuermann 32 HP:0010891

Drugs & Therapeutics for Scheuermann Disease

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivaroxaban Approved 366789-02-8
2
Menadione Approved, Nutraceutical 58-27-5 4055
3
Phytonadione Approved, Nutraceutical 84-80-0 4812 5284607
4 Anticoagulants
5 Antithrombin III
6 Antithrombins
7 Factor Xa Inhibitors
8 HIV Protease Inhibitors
9
protease inhibitors
10 Serine Proteinase Inhibitors
11 Vitamins
12 Menaquinone Nutraceutical
13 naphthoquinone Nutraceutical
14 serine Nutraceutical
15 Vitamin K Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Comparison of Standard Fusion With "Topping Off"-System in Lumbar Spine Unknown status NCT01224379
2 Prospective Study of Scheuermann's Kyphosis Completed NCT00738309
3 Sleep Disturbance and Sleep Quality in Women With Fibromyalgia Syndrome Completed NCT00482859
4 Multicenter Retrospective Evaluation of the Surgical Management of Spinal Growth Dystrophy Recruiting NCT02904681
5 Longitudinal Assessment of Cardiovascular and Metabolic Parameters in Obese and Lean Children Recruiting NCT01605123
6 Factor XA - Inhibition in RENal Patients With Non-valvular Atrial Fibrillation - Observational Registry Recruiting NCT02663076
7 Cytokine Profiles in Spondylodiscitis Recruiting NCT02554227
8 Estimation of the Long Term Effectiveness of Routine Use of Cardiac Shock Wave Therapy Withdrawn NCT01631409

Search NIH Clinical Center for Scheuermann Disease

Cochrane evidence based reviews: scheuermann disease

Genetic Tests for Scheuermann Disease

Anatomical Context for Scheuermann Disease

MalaCards organs/tissues related to Scheuermann Disease:

39
Bone

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

18
Thoracic Vertebral Column

Publications for Scheuermann Disease

Articles related to Scheuermann Disease:

(show all 20)
id Title Authors Year
1
Radiological imaging findings of scheuermann disease. ( 27928471 )
2016
2
Cervical Sagittal Alignment in Scheuermann Disease. ( 26536439 )
2015
3
Improvement of clinical and radiographical presentation of Scheuermann disease after Schroth therapy treatment. ( 25892377 )
2015
4
Radiological signs of Scheuermann disease and low back pain: retrospective categorization of 188 hospital staff members with 6-year follow-up. ( 24979145 )
2014
5
Radiographic spinopelvic parameters in skeletally mature patients with Scheuermann disease. ( 24921842 )
2014
6
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
7
Scheuermann disease: evaluation of radiological criteria and population prevalence. ( 24509552 )
2013
8
Scheuermann disease presenting as compressive myelopathy. ( 22508849 )
2012
9
Spinal epidural lipomatosis: a common imaging feature in Scheuermann disease. ( 21705916 )
2012
10
Review of rehabilitation and orthopedic conservative approach to sagittal plane diseases during growth: hyperkyphosis, junctional kyphosis, and Scheuermann disease. ( 20032919 )
2009
11
A simple radiological method for recognizing osteoporotic thoracic vertebral compression fractures and distinguishing them from Scheuermann disease. ( 19680108 )
2009
12
The role of sternum in the etiopathogenesis of Scheuermann disease of the thoracic spine. ( 18165737 )
2008
13
Classical Scheuermann disease in male monozygotic twins: further support for the genetic etiology hypothesis. ( 12436008 )
2002
14
Segregation analysis of Scheuermann disease in ninety families from Siberia. ( 11343318 )
2001
15
Increased Tc-99m MDP in multiple lumbar intervertebral disk spaces in Scheuermann disease without concomitant radiographic calcification or diskitis. ( 7805317 )
1994
16
Bone scintigraphy in patients with atypical lumbar Scheuermann disease. ( 8376564 )
1993
17
Familial Scheuermann disease: a genetic and linkage study. ( 1552543 )
1992
18
Scheuermann disease. ( 2195036 )
1990
19
Disc degeneration in Scheuermann disease. ( 2588031 )
1989
20
Vertebral bone density in Scheuermann disease. ( 2745485 )
1989

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.8 COL2A1 COL9A3

GO Terms for Scheuermann Disease

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

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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