MCID: SCH072
MIFTS: 35

Scheuermann Disease

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Scheuermann Disease

MalaCards integrated aliases 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;

OMIM:

54
Inheritance:
autosomal dominant


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
UMLS via Orphanet 70 C0036310
ICD10 via Orphanet 34 M42.0
UMLS 69 C0036310

Summaries for Scheuermann Disease

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3135old section part 1familial 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.old section part 2visit 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 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 are PI3K-Akt signaling pathway and ECM-receptor interaction. Affiliated tissues include bone and spinal cord.

OMIM : 54
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.

Related Diseases for Scheuermann Disease

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 scoliosis 9.7
2 idiopathic scoliosis 9.7
3 cervicitis 9.7
4 lipomatosis 9.7
5 ischemia 9.7
6 back pain 9.7
7 bone structure disease 9.6 COL2A1 COL9A3
8 intermediate uveitis 9.6 COL2A1 COL9A3
9 chromosomal disease 9.5 COL2A1 COL9A3
10 charcot-marie-tooth disease type 5 9.3 COL2A1 COL9A3
11 vater/vacterl association 7.5 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 via clinical synopsis from OMIM:

54

Spine:
scheuermann juvenile kyphosis

Radiology:
spinal osteochondrosis


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 hallmark (90%) Very frequent (99-80%) HP:0002808
2 abnormal form of the vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003312
3 morbus scheuermann 32 HP:0010891

Drugs & Therapeutics for Scheuermann Disease

Interventional clinical trials:


id 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

MalaCards organs/tissues related to Scheuermann Disease:

39
Bone, Spinal Cord

Publications for Scheuermann Disease

Articles related to Scheuermann Disease:

(show all 22)
id Title Authors Year
1
Familial lumbar Scheuermann disease with idiopathic scoliosis in China: First case report. ( 28640085 )
2017
2
Spinal cord ischemia in Scheuermann disease: A report of three cases. ( 28131733 )
2017
3
Radiological imaging findings of scheuermann disease. ( 27928471 )
2016
4
Cervical Sagittal Alignment in Scheuermann Disease. ( 26536439 )
2015
5
Improvement of clinical and radiographical presentation of Scheuermann disease after Schroth therapy treatment. ( 25892377 )
2015
6
Radiographic spinopelvic parameters in skeletally mature patients with Scheuermann disease. ( 24921842 )
2014
7
Radiological signs of Scheuermann disease and low back pain: retrospective categorization of 188 hospital staff members with 6-year follow-up. ( 24979145 )
2014
8
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
9
Scheuermann disease: evaluation of radiological criteria and population prevalence. ( 24509552 )
2013
10
Spinal epidural lipomatosis: a common imaging feature in Scheuermann disease. ( 21705916 )
2012
11
Scheuermann disease presenting as compressive myelopathy. ( 22508849 )
2012
12
Review of rehabilitation and orthopedic conservative approach to sagittal plane diseases during growth: hyperkyphosis, junctional kyphosis, and Scheuermann disease. ( 20032919 )
2009
13
A simple radiological method for recognizing osteoporotic thoracic vertebral compression fractures and distinguishing them from Scheuermann disease. ( 19680108 )
2009
14
The role of sternum in the etiopathogenesis of Scheuermann disease of the thoracic spine. ( 18165737 )
2008
15
Classical Scheuermann disease in male monozygotic twins: further support for the genetic etiology hypothesis. ( 12436008 )
2002
16
Segregation analysis of Scheuermann disease in ninety families from Siberia. ( 11343318 )
2001
17
Increased Tc-99m MDP in multiple lumbar intervertebral disk spaces in Scheuermann disease without concomitant radiographic calcification or diskitis. ( 7805317 )
1994
18
Bone scintigraphy in patients with atypical lumbar Scheuermann disease. ( 8376564 )
1993
19
Familial Scheuermann disease: a genetic and linkage study. ( 1552543 )
1992
20
Scheuermann disease. ( 2195036 )
1990
21
Vertebral bone density in Scheuermann disease. ( 2745485 )
1989
22
Disc degeneration in Scheuermann disease. ( 2588031 )
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 11.33 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:

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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