MCID: SCH072
MIFTS: 39

Scheuermann Disease

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Scheuermann Disease

MalaCards integrated aliases for Scheuermann Disease:

Name: Scheuermann Disease 57 12 53 44 40
Scheuermann's Disease 12 76 15 73
Familial Scheuermann Juvenile Kyphosis 53 59
Juvenile Osteochondrosis of Spine 12 6
Familial Spinal Osteochondrosis 53 59
Familial Scheuermann Disease 53 59
Juvenile Osteochondrosis of Scheurermann 12
[x]spinal Osteochondrosis, Unspecified 73
Juvenile Osteochondritis of the Spine 12
Scheuermann Juvenile Kyphosis 57
Spinal Osteochondrosis 57
Scheuermann's Kyphosis 12
Scheuermann Kyphosis 53
Sherman's Disease 12
Juvenile Kyphosis 53

Characteristics:

Orphanet epidemiological data:

59
familial scheuermann disease
Inheritance: Autosomal dominant; Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
scheuermann disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 181440
Disease Ontology 12 DOID:13300
ICD10 33 M42.0 M42.00 M42
ICD9CM 35 732.0
MeSH 44 D012544
NCIt 50 C34999
Orphanet 59 ORPHA3135
UMLS via Orphanet 74 C0036310
ICD10 via Orphanet 34 M42.0
MedGen 42 C0036310
SNOMED-CT via HPO 69 263681008 414564002

Summaries for Scheuermann Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Scheuermann Disease, also known as scheuermann's disease, is related to osteochondrosis and sacral agenesis with vertebral anomalies. 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, and related phenotypes are kyphosis and abnormal form of the vertebral bodies

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

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)

Wikipedia : 76 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 18)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 10.4
2 sacral agenesis with vertebral anomalies 10.3
3 paine syndrome 9.8
4 spondylosis 9.8
5 fibromyalgia 9.8
6 bone mineral density quantitative trait locus 15 9.8
7 scoliosis 9.8
8 idiopathic scoliosis 9.8
9 cervicitis 9.8
10 lipomatosis 9.8
11 ischemia 9.8
12 back pain 9.8
13 bone deterioration disease 9.6 COL2A1 COL9A3
14 stickler syndrome 9.5 COL2A1 COL9A3
15 spinal stenosis 9.4 COL2A1 COL9A3
16 bone structure disease 9.3 COL2A1 COL9A3
17 multiple epiphyseal dysplasia 9.1 COL2A1 COL9A3
18 trehalase deficiency 8.4 COL2A1 COL9A3 CUL4B 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:

57
Spine:
scheuermann juvenile kyphosis

Radiology:
spinal osteochondrosis


Clinical features from OMIM:

181440

Human phenotypes related to Scheuermann Disease:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
2 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
3 morbus scheuermann 32 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:

19
Thoracic Vertebral Column

MalaCards organs/tissues related to Scheuermann Disease:

41
Bone, Spinal Cord

Publications for Scheuermann Disease

Articles related to Scheuermann Disease:

(show all 24)
# Title Authors Year
1
Posterior-only versus combined anterior/posterior fusion in Scheuermann disease: a large retrospective study. ( 29779056 )
2018
2
Scheuermann Disease ( 29763141 )
2018
3
Familial lumbar Scheuermann disease with idiopathic scoliosis in China: First case report. ( 28640085 )
2017
4
Spinal cord ischemia in Scheuermann disease: A report of three cases. ( 28131733 )
2017
5
Radiological imaging findings of scheuermann disease. ( 27928471 )
2016
6
Cervical Sagittal Alignment in Scheuermann Disease. ( 26536439 )
2015
7
Improvement of clinical and radiographical presentation of Scheuermann disease after Schroth therapy treatment. ( 25892377 )
2015
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
Radiological signs of Scheuermann disease and low back pain: retrospective categorization of 188 hospital staff members with 6-year follow-up. ( 24979145 )
2014
10
Radiographic spinopelvic parameters in skeletally mature patients with Scheuermann disease. ( 24921842 )
2014
11
Scheuermann disease: evaluation of radiological criteria and population prevalence. ( 24509552 )
2013
12
Spinal epidural lipomatosis: a common imaging feature in Scheuermann disease. ( 21705916 )
2012
13
Scheuermann disease presenting as compressive myelopathy. ( 22508849 )
2012
14
A simple radiological method for recognizing osteoporotic thoracic vertebral compression fractures and distinguishing them from Scheuermann disease. ( 19680108 )
2009
15
Review of rehabilitation and orthopedic conservative approach to sagittal plane diseases during growth: hyperkyphosis, junctional kyphosis, and Scheuermann disease. ( 20032919 )
2009
16
The role of sternum in the etiopathogenesis of Scheuermann disease of the thoracic spine. ( 18165737 )
2008
17
Classical Scheuermann disease in male monozygotic twins: further support for the genetic etiology hypothesis. ( 12436008 )
2002
18
Segregation analysis of Scheuermann disease in ninety families from Siberia. ( 11343318 )
2001
19
Increased Tc-99m MDP in multiple lumbar intervertebral disk spaces in Scheuermann disease without concomitant radiographic calcification or diskitis. ( 7805317 )
1994
20
Bone scintigraphy in patients with atypical lumbar Scheuermann disease. ( 8376564 )
1993
21
Familial Scheuermann disease: a genetic and linkage study. ( 1552543 )
1992
22
Scheuermann disease. ( 2195036 )
1990
23
Disc degeneration in Scheuermann disease. ( 2588031 )
1989
24
Vertebral bone density in Scheuermann disease. ( 2745485 )
1989

Variations for Scheuermann Disease

ClinVar genetic disease variations for Scheuermann Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Likely pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
2 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Likely pathogenic rs281864980 GRCh38 Chromosome 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
11.63 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 8.62 COL2A1 COL9A3

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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