MCID: DYS018
MIFTS: 44

Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Dysostosis

MalaCards integrated aliases for Dysostosis:

Name: Dysostosis 11 58 75 53 14
Dysostoses 43 71

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:1934
MeSH 43 D004413
NCIt 49 C34560
SNOMED-CT 68 109420003
UMLS via Orphanet 72 C0013393
Orphanet 58 ORPHA364559
ICD11 33 395969787
UMLS 71 C0013393

Summaries for Dysostosis

Disease Ontology: 11 A bone development disease that results in defective ossification of bone.

MalaCards based summary: Dysostosis, also known as dysostoses, is related to mandibulofacial dysostosis, guion-almeida type and acrofacial dysostosis 1, nager type. An important gene associated with Dysostosis is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Gastrulation and Neural crest differentiation. The drugs Cimetidine and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and globus pallidus, and related phenotypes are growth/size/body region and nervous system

Wikipedia: 75 A dysostosis is a disorder of the development of bone, in particular affecting ossification. Examples... more...

Related Diseases for Dysostosis

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

(show top 50) (show all 585)
# Related Disease Score Top Affiliating Genes
1 mandibulofacial dysostosis, guion-almeida type 33.2 TCOF1 SF3B4 EFTUD2
2 acrofacial dysostosis 1, nager type 33.2 TCOF1 SF3B4 EFTUD2 DHODH
3 spondylocostal dysostosis 5 33.0 TBX6 RIPPLY2 MESP2 LFNG HES7
4 spondylocostal dysostosis 32.9 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
5 treacher collins syndrome 1 32.9 TCOF1 SF3B4 POLR1A EFTUD2
6 postaxial acrofacial dysostosis 32.9 TCOF1 SF3B4 EFTUD2 DHODH
7 acrofacial dysostosis, cincinnati type 32.8 TCOF1 POLR1A
8 crouzon syndrome 32.8 TWIST1 TCOF1 RUNX2 FGFR2 ALX4
9 spondylocostal dysostosis 1, autosomal recessive 32.8 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
10 spondylocostal dysostosis 4, autosomal recessive 32.6 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
11 acrofacial dysostosis 32.5 TCOF1 SF3B4 POLR1A EVC2 EVC EFTUD2
12 spondylocostal dysostosis, autosomal recessive 32.3 RIPPLY2 MESP2 LFNG HES7 DLL3
13 craniofacial microsomia 32.0 TCOF1 EFTUD2
14 synostosis 32.0 TWIST1 SF3B4 RUNX2 FGFR2 ALX4
15 sweeney-cox syndrome 31.9 TWIST1 POLR1A
16 frontonasal dysplasia 1 31.8 ZSWIM6 RUNX2 ALX4
17 saethre-chotzen syndrome 31.7 TWIST1 RUNX2 FGFR2 ALX4
18 cleft palate, isolated 31.0 TWIST1 TCOF1 RUNX2 FGFR2 EVC2 EVC
19 meningocele 30.9 MESP2 HES7
20 craniosynostosis 30.8 TWIST1 RUNX2 FGFR2 ALX4
21 scoliosis 30.8 TBX6 RUNX2 RIPPLY2 MESP2 LFNG HES7
22 apert syndrome 30.8 TWIST1 RUNX2 FGFR2 ALX4
23 polydactyly 30.7 TWIST1 FGFR2 EVC2 EVC
24 osteochondrodysplasia 30.7 RUNX2 FGFR2 EVC2 EVC CHST3
25 widow's peak 30.4 ZSWIM6 ALX4
26 radioulnar synostosis 30.4 SF3B4 FGFR2 EFTUD2
27 tooth agenesis 30.4 TCOF1 RUNX2 FGFR2 EVC2 EVC
28 parietal foramina 30.3 ZSWIM6 TWIST1 RUNX2 ALX4
29 facial cleft 30.2 ZSWIM6 ALX4
30 humeroradial synostosis 30.1 SF3B4 FGFR2
31 orofacial cleft 30.0 TCOF1 RUNX2 FGFR2 EVC2 EFTUD2 ALX4
32 cerebrocostomandibular syndrome 29.6 SF3B4 EFTUD2
33 weyers acrofacial dysostosis 11.7
34 acrofacial dysostosis, catania type 11.5
35 cleidocranial dysplasia 1 11.5
36 acrofrontofacionasal dysostosis 11.5
37 acromelic frontonasal dysostosis 11.5
38 acrofacial dysostosis, palagonia type 11.5
39 spondylocostal dysostosis 2, autosomal recessive 11.5
40 acrofacial dysostosis syndrome of rodriguez 11.5
41 mandibulofacial dysostosis with alopecia 11.5
42 craniofacial dysostosis with diaphyseal hyperplasia 11.5
43 spondylocostal dysostosis 6, autosomal recessive 11.4
44 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 11.4
45 spondylocostal dysostosis 3, autosomal recessive 11.4
46 fontaine progeroid syndrome 11.4
47 peripheral dysostosis 11.4
48 spondyloepiphyseal dysplasia with congenital joint dislocations 11.4
49 acrofrontofacionasal dysostosis 2 11.4
50 branchial arch syndrome, x-linked 11.4

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to Dysostosis

Symptoms & Phenotypes for Dysostosis

MGI Mouse Phenotypes related to Dysostosis:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 ALX4 DLL3 EDNRA EFTUD2 EVC EVC2
2 nervous system MP:0003631 10.37 ALX4 CHST3 DLL3 EDNRA EVC2 FGFR2
3 limbs/digits/tail MP:0005371 10.31 ALX4 DLL3 EVC EVC2 FGFR2 HES7
4 embryo MP:0005380 10.3 ALX4 DHODH DLL3 EDNRA EFTUD2 FGFR2
5 muscle MP:0005369 10.21 ALX4 DLL3 EDNRA EFTUD2 FGFR2 LFNG
6 cellular MP:0005384 10.15 CHST3 EDNRA EVC EVC2 FGFR2 MESP2
7 craniofacial MP:0005382 10.1 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
8 skeleton MP:0005390 10.06 ALX4 CHST3 DLL3 EDNRA EVC EVC2
9 digestive/alimentary MP:0005381 10.03 ALX4 EDNRA EVC2 FGFR2 RUNX2 TBX6
10 reproductive system MP:0005389 9.96 CHST3 DLL3 EFTUD2 EVC EVC2 FGFR2
11 respiratory system MP:0005388 9.87 ALX4 EDNRA FGFR2 LFNG RIPPLY2 RUNX2
12 vision/eye MP:0005391 9.61 ALX4 DLL3 EDNRA FGFR2 LFNG POLR1A
13 mortality/aging MP:0010768 9.6 ALX4 DHODH DLL3 EDNRA EFTUD2 EVC

Drugs & Therapeutics for Dysostosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cimetidine Approved, Investigational 51481-61-9 2756
2 Calcium, Dietary
3 Pharmaceutical Solutions
4
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cranial Reconstruction With Patient-specific Titanium Mesh/Mosaic-designed Calcium Phosphate-implant - A Multi Center Center, Single Arm, Non-comparative Prospective Case Series Unknown status NCT01899807
2 Clinical Evaluation of Biomet Microfixation Devices Used in Facial & Mandibular Surgical Procedures. Facial Plating System, HTR PEKK (Midface) and Mandibular Plates: A Post Market Clinical Follow-up Study Recruiting NCT04931056
3 Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study Recruiting NCT05419245
4 Evaluatin of Maxillery Skeletal Expansion in Young Adults, With Two Different Activation Protocols. A Randomized Clinical Trial Recruiting NCT04908540
5 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
6 Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care Enrolling by invitation NCT05368064
7 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Terminated NCT01144741
8 Ultrasound-guided Superficial Cervical Plexus Block for Pain Management After Orthognathic Surgery. Withdrawn NCT04442009

Search NIH Clinical Center for Dysostosis

Cochrane evidence based reviews: dysostoses

Genetic Tests for Dysostosis

Anatomical Context for Dysostosis

Organs/tissues related to Dysostosis:

MalaCards : Bone, Bone Marrow, Globus Pallidus, Eye, Heart, Spinal Cord, Skin

Publications for Dysostosis

Articles related to Dysostosis:

(show top 50) (show all 2338)
# Title Authors PMID Year
1
Mutated MESP2 causes spondylocostal dysostosis in humans. 53 62
15122512 2004
2
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. 53 62
12746394 2003
3
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. 53 62
11118901 2001
4
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 53 62
10742114 2000
5
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 53 62
10700184 2000
6
Ichthyosis: the skin manifestation of multiple sulfatase deficiency. 53 62
9336808 1997
7
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. 62
36161696 2022
8
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India. 62
34714179 2022
9
Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period. 62
35771677 2022
10
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type. 62
36317361 2022
11
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. 62
36271508 2022
12
Radiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey. 62
36100508 2022
13
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. 62
34916232 2022
14
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum. 62
34410171 2022
15
Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development. 62
35881792 2022
16
Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis. 62
36158048 2022
17
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review. 62
35893030 2022
18
The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development. 62
35893124 2022
19
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene. 62
35751431 2022
20
Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report. 62
35846898 2022
21
Crouzon syndrome in a fraternal twin: A case report and review of the literature. 62
35812652 2022
22
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. 62
35732499 2022
23
Binder's syndrome: A narrative review. 62
35654104 2022
24
A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly. 62
35435265 2022
25
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis? 62
35395430 2022
26
Hypertelorbitism Corrected by Facial Bipartition Improves Exotropia. 62
35286295 2022
27
Paclitaxel use in pregnancy: neonatal follow-up of infants with positive detection of intact paclitaxel and metabolites in meconium at birth. 62
35066626 2022
28
Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis. 62
35137400 2022
29
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review. 62
35240322 2022
30
Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report. 62
35328179 2022
31
Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study. 62
35352007 2022
32
Correction of Midface Deficiency in Patient With Crouzon Syndrome by Orthognathic Surgery and Patient Specific Facial Implant: Case Report. 62
35385240 2022
33
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II. 62
35144014 2022
34
Hunter Syndrome: The Phenotype of a Rare Storage Disease. 62
35282545 2022
35
Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report. 62
36324970 2022
36
[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome]. 62
34979617 2022
37
Late-infantile GM1 gangliosidosis: A case report. 62
35029890 2022
38
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei. 62
34693919 2022
39
Microdeletion of 4p16.2 in Children: A Case Report and Literature Review. 62
35437470 2022
40
Monobloc Differential Distraction Osteogenesis. 62
34967523 2022
41
Robot-assisted frontofacial correction in very young children with craniofacial dysostosis syndromes: a technical note and early functional outcome. 62
34973669 2022
42
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report. 62
35078524 2022
43
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. 62
34400385 2021
44
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. 62
34341987 2021
45
Congenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review. 62
34735385 2021
46
Eccentric Rotational Acetabular Osteotomy Using Computed Navigation Guidance for Developmental Dysplasia of the Hip, Sacroiliac Fusion, and Femoroacetabular Impingement Owing to Acetabular Retroversion: A Case Report. 62
34549883 2021
47
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series. 62
34666789 2021
48
Prenatal features of mandibulofacial dysostosis Guion-Almeida Type. 62
35027977 2021
49
[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type]. 62
34365627 2021
50
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme. 62
34425818 2021

Variations for Dysostosis

Expression for Dysostosis

Search GEO for disease gene expression data for Dysostosis.

Pathways for Dysostosis

GO Terms for Dysostosis

Biological processes related to Dysostosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 10.01 RIPPLY2 MESP2 HES7 DLL3
2 positive regulation of epithelial cell proliferation GO:0050679 9.97 TWIST1 RUNX2 FGFR2
3 embryonic forelimb morphogenesis GO:0035115 9.8 ALX4 RUNX2 TWIST1
4 endochondral bone growth GO:0003416 9.78 FGFR2 EVC
5 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.76 TWIST1 EDNRA
6 skeletal system morphogenesis GO:0048705 9.73 RUNX2 FGFR2 ALX4
7 embryonic cranial skeleton morphogenesis GO:0048701 9.73 TWIST1 RUNX2 FGFR2
8 compartment pattern specification GO:0007386 9.67 LFNG DLL3
9 somite rostral/caudal axis specification GO:0032525 9.63 TBX6 RIPPLY2 MESP2
10 somitogenesis GO:0001756 9.56 RIPPLY2 LFNG HES7 DLL3
11 skeletal system development GO:0001501 9.36 TCOF1 RUNX2 HES7 EVC DLL3 ALX4

Sources for Dysostosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....