MCID: SCH072
MIFTS: 42

Scheuermann Disease

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Scheuermann Disease

MalaCards integrated aliases for Scheuermann Disease:

Name: Scheuermann Disease 57 12 20 44 39
Scheuermann's Disease 12 73 15 70
Juvenile Osteochondrosis of Spine 12 6 32
Spinal Osteochondrosis 57 17 32
Familial Scheuermann Juvenile Kyphosis 20 58
Familial Spinal Osteochondrosis 20 58
Familial Scheuermann Disease 20 58
Juvenile Osteochondrosis of Scheurermann 12
[x]spinal Osteochondrosis, Unspecified 70
Juvenile Osteochondritis of the Spine 12
Scheuermann Juvenile Kyphosis 57
Scheuermann's Kyphosis 12
Scheuermann Kyphosis 20
Sherman's Disease 12
Juvenile Kyphosis 20

Characteristics:

Orphanet epidemiological data:

58
familial scheuermann disease
Inheritance: Autosomal dominant; Age of onset: Adolescent;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
scheuermann disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:13300
OMIM® 57 181440
ICD9CM 34 732.0
MeSH 44 D012544
NCIt 50 C34999
SNOMED-CT 67 53406005
ICD10 32 M42 M42.0 M42.9
ICD10 via Orphanet 33 M42.0
UMLS via Orphanet 71 C0036310
Orphanet 58 ORPHA3135
MedGen 41 C0036310
SNOMED-CT via HPO 68 19579005 263681008 414564002
UMLS 70 C0036310 C0477611

Summaries for Scheuermann Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3135 Definition 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). The drugs Vitamin D 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

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) (Updated 05-Apr-2021)

Wikipedia : 73 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 84)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 30.3 GNPTAB COL9A3 COL2A1
2 spinal stenosis 30.2 COL9A3 COL2A1
3 spondylolisthesis 30.0 SMR3A PTP4A2 COL9A3
4 spondyloepiphyseal dysplasia with congenital joint dislocations 29.8 FLNB COL9A3 COL2A1
5 scoliosis 29.7 PAX1 FLNB COL2A1 C17orf67
6 vitreous syneresis 10.2 COL9A3 COL2A1
7 retinal lattice degeneration 10.2 COL9A3 COL2A1
8 osteochondritis dissecans 10.2
9 kniest dysplasia 10.2 COL9A3 COL2A1
10 virus-associated trichodysplasia spinulosa 10.2
11 paraplegia 10.2
12 spondyloepiphyseal dysplasia congenita 10.2 COL9A3 COL2A1
13 tracheomalacia 10.2 NAA60 COL2A1
14 marshall syndrome 10.2 COL9A3 COL2A1
15 legg-calve-perthes disease 10.2 GNPTAB COL2A1
16 idiopathic scoliosis 10.2
17 spinal disease 10.2
18 back pain 10.2
19 bone deterioration disease 10.2 COL9A3 COL2A1
20 osteoporosis 10.1
21 bone mineral density quantitative trait locus 8 10.1
22 bone mineral density quantitative trait locus 15 10.1
23 fibrochondrogenesis 10.1 COL9A3 COL2A1
24 diastrophic dysplasia 10.1 COL9A3 COL2A1
25 atelosteogenesis 10.1 FLNB COL9A3
26 schopf-schulz-passarge syndrome 10.1
27 toxic shock syndrome 10.1
28 anterior spinal artery syndrome 10.1
29 median arcuate ligament syndrome 10.1
30 spondylosis 10.1
31 polykaryocytosis inducer 10.0
32 body mass index quantitative trait locus 1 10.0
33 blount's disease 10.0
34 pneumothorax 10.0
35 exostosis 10.0
36 spasticity 10.0
37 spinal cord injury 10.0
38 dysostosis 10.0
39 spondylolysis 10.0
40 skeletal dysplasias 10.0 FLNB COL2A1
41 bone structure disease 10.0 PAX1 COL9A3 COL2A1
42 achondrogenesis 10.0 COL9A3 COL2A1
43 bone development disease 10.0 FLNB COL9A3 COL2A1
44 stickler syndrome 9.9 COL9A3 COL2A1 CMSS1
45 syringomyelia, noncommunicating isolated 9.9
46 osteomyelitis 9.9
47 rickets 9.9
48 discitis 9.9
49 inflammatory spondylopathy 9.9
50 lipomatosis 9.9

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
2 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
3 osteochondrosis 31 HP:0040188
4 morbus scheuermann 31 HP:0010891

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Spine:
scheuermann juvenile kyphosis

Radiology:
spinal osteochondrosis

Clinical features from OMIM®:

181440 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Scheuermann Disease according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.81 FLNB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.81 ADAMTS18
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.81 STRADA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.81 ADAMTS18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.81 FLNB PTP4A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.81 PTP4A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.81 ADAMTS18 FLNB PTP4A2 STRADA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.81 ADAMTS18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.81 FLNB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.81 PTP4A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.81 ADAMTS18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.81 PTP4A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.81 ADAMTS18
14 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.81 ADAMTS18
15 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.81 ADAMTS18 FLNB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.81 STRADA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.81 ADAMTS18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.81 ADAMTS18 FLNB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.81 PTP4A2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.81 STRADA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 STRADA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.81 ADAMTS18 PTP4A2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.81 STRADA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.81 PTP4A2

MGI Mouse Phenotypes related to Scheuermann Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.56 ADAMTS18 COL2A1 COL9A3 FLNB GNPTAB LIX1L
2 limbs/digits/tail MP:0005371 9.02 COL2A1 FLNB GNPTAB PAX1 PTP4A2

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
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
2 Vitamins
3 Calciferol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Scheuermann's Kyphosis Completed NCT00738309
2 Sling Suspension Versus Gym Balls in the Treatment of Juvenile Spinal Osteochondrosis in Adolescent Girls Completed NCT03851367
3 Evaluation of Polymorphisms in the Vitamin D Receptor and Involved in Inflammation Associated With Vertebral Osteochondrosis Recruiting NCT04195529
4 Personalized Spine Study Group (PSSG) Registry of Patients With Personalized Spine Rod Implantation Recruiting NCT04601363
5 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 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

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

19
Thoracic Vertebral Column

MalaCards organs/tissues related to Scheuermann Disease:

40
Bone, Spinal Cord, Heart

Publications for Scheuermann Disease

Articles related to Scheuermann Disease:

(show top 50) (show all 405)
# Title Authors PMID Year
1
Segregation analysis of Scheuermann disease in ninety families from Siberia. 57 61
11343318 2001
2
Familial Scheuermann disease: a genetic and linkage study. 57 61
1552543 1992
3
Dominant inheritance of Scheuermann's juvenile kyphosis. 57
2738903 1989
4
Juvenile kyphosis in identical twins. 57
6766635 1980
5
Dominant inheritance of Scheuermann's juvenile kyphosis. 57
717319 1978
6
Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome. 57
949237 1976
7
Posterior-only versus combined anterior-posterior fusion in Scheuermann disease: a systematic review and meta-analysis. 61
33361485 2020
8
Sternoclavicular dislocation as a possible complication for surgical Scheuermann's deformity correction: a case report. 61
31486899 2020
9
Magnetic resonance imaging findings of the lumbar spine, back symptoms and physical function among male adult patients with Scheuermann's disease. 61
32139999 2020
10
Infection Recurrence in Instrumented Spinal Fusion in Children. 61
32783471 2020
11
Introduction of the Novel Radiographic Line (L5-Kyphosis Apex Line) Intended to Evaluate Scheuermann's Disease and Postural Kyphosis Progression on Standard Lateral X-Rays. 61
31940713 2020
12
Scheuermann's Disease as a Risk Factor for Lumbar Disc Herniation Recurrence. 61
32703341 2020
13
Low back pain in children and adolescents: Real life experience of 106 patients. 61
33381701 2020
14
Sagittal Spinal and Pelvic Parameters in Patients With Scheuermann's Disease: A Preliminary Study. 61
31970049 2019
15
Scheuermann's disease: non-surgical improvement in whole spine sagittal alignment in the treatment of a symptomatic patient using Chiropractic BioPhysics® technique. 61
31871386 2019
16
Minimum five-year follow-up of posterior-only pedicle screw constructs for thoracic and thoracolumbar kyphosis. 61
31359215 2019
17
Comparison Between Stable Sagittal Vertebra and First Lordotic Vertebra Instrumentation for Prevention of Distal Junctional Kyphosis in Scheuermann Disease: Systematic Review and Meta-analysis. 61
30762837 2019
18
Spinal Epidural Lipomatosis: A Review of Pathogenesis, Characteristics, Clinical Presentation, and Management. 61
31448201 2019
19
Scheuermann's disease in patients 15-40 years old: A study to determine its prevalence and its relationship with age and sex using chest radiographs as screening tool. 61
30685093 2019
20
Spinal deformity and malocclusion association is not supported by high-quality studies: results from a systematic review of the literature. 61
30673874 2019
21
How does the cervical spine respond to hyperkyphosis correction in Scheuermann's disease? 61
31174187 2019
22
The Effect of Schroth Therapy on Thoracic Kyphotic Curve and Quality of Life in Scheuermann's Patients: A Randomized Controlled Trial. 61
30669825 2019
23
What Are the Indications for Spinal Fusion Surgery in Scheuermann Kyphosis? 61
30969249 2019
24
Surgical treatment of thoracic disc herniation: an overview. 61
30406842 2019
25
Severe hyperkyphosis reduces the aerobic capacity and maximal exercise tolerance in patients with Scheuermann disease. 61
30025996 2019
26
Scheuermann's Disease: Radiographic Pathomorphology and Association with Clinical Features. 61
30326689 2019
27
Long term prognosis of Scheuermann's disease: The association with fragility fracture - The MINOS cohort. 61
30244156 2018
28
Scheuermann's Disease with Extensive Involvement of Dorsolumbar Spine. 61
29725973 2018
29
Posterior-only versus combined anterior/posterior fusion in Scheuermann disease: a large retrospective study. 61
29779056 2018
30
Adaptation of the Scoliosis Research Society-22 Questionnaire for the Hebrew Language: Transcultural Adaptation and Reliability Analysis. 61
29886910 2018
31
Thoracic disc herniation: Surgical treatment. 61
29225115 2018
32
Frequent Benign, Nontraumatic, Noninflammatory Causes of Low Back Pain in Adolescents: MRI Findings. 61
29593901 2018
33
Scheuermann's disease in a juvenile male from the late Roman necropolis of Torrenueva (3rd-4th century CE, Granada, Spain). 61
28888389 2017
34
Progression of untreated mild thoracic Scheuermann's kyphosis - Radiographic and functional assessment after mean follow-up of 46 years. 61
28420562 2017
35
Familial lumbar Scheuermann disease with idiopathic scoliosis in China: First case report. 61
28640085 2017
36
Spinal cord ischemia in Scheuermann disease: A report of three cases. 61
28131733 2017
37
Erratum to: Distal junctional kyphosis in patients with Scheuermann's disease: a retrospective radiographic analysis. 61
28194535 2017
38
Successful brace treatment of Scheuermann's kyphosis with different angles. 61
28694598 2017
39
Anterior release for Scheuermann's disease: a systematic literature review and meta-analysis. 61
27384777 2017
40
Distal junctional kyphosis in patients with Scheuermann's disease: a retrospective radiographic analysis. 61
28040875 2017
41
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. 61
28328806 2017
42
Management of Spinal Deformities and Evidence of Treatment Effectiveness. 61
29399227 2017
43
Radiological imaging findings of scheuermann disease. 61
27928471 2016
44
MR imaging of Schmorl's nodes: Imaging characteristics and epidemio-clinical relationships. 61
26947187 2016
45
[Omitted spinal X-ray examination after a fall from a height of 3 m]. 61
26446722 2016
46
Bracing for Adolescent Idiopathic Scoliosis (AIS) and Scheuermann Kyphosis: the issue of overtreatment in Greece. 61
27785469 2016
47
Outcome of intensive outpatient rehabilitation and bracing in an adult patient with Scheuermann's disease evaluated by radiologic imaging-a case report. 61
27785478 2016
48
Sacral orientation and Scheuermann's kyphosis. 61
26933639 2016
49
Cervical Sagittal Alignment in Scheuermann Disease. 61
26536439 2015
50
Vertebral Scheuermann's disease in Europe: prevalence, geographic variation and radiological correlates in men and women aged 50 and over. 61
26021761 2015

Variations for Scheuermann Disease

ClinVar genetic disease variations for Scheuermann Disease:

6
# 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

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 8.8 COL9A3 COL2A1 ADAMTS18

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 8.8 COL9A3 COL2A1 ADAMTS18

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 COL9A3 COL2A1

Sources for Scheuermann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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