MCID: DYS018
MIFTS: 43

Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysostosis

MalaCards integrated aliases for Dysostosis:

Name: Dysostosis 12 74 58 54 15
Dysostoses 43 71

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1934
MeSH 43 D004413
NCIt 49 C34560
UMLS via Orphanet 72 C0013393
Orphanet 58 ORPHA364559
UMLS 71 C0013393

Summaries for Dysostosis

Disease Ontology : 12 A bone development disease that results in defective ossification of located in bone.

MalaCards based summary : Dysostosis, also known as dysostoses, is related to acrofacial dysostosis 1, nager type and spondylocostal dysostosis 5. An important gene associated with Dysostosis is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Neural Crest Differentiation and Gene regulatory network modelling somitogenesis. The drugs Calcium and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and embryo

Wikipedia : 74 A dysostosis is a disorder of the development of bone, in particular affecting... more...

Related Diseases for Dysostosis

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

(show top 50) (show all 500)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 35.1 SF3B4 EFTUD2 DHODH
2 spondylocostal dysostosis 5 34.9 TBX6 HES7
3 weyers acrofacial dysostosis 34.9 EVC2 EVC
4 spondylocostal dysostosis 3, autosomal recessive 34.8 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
5 spondylocostal dysostosis 1, autosomal recessive 34.8 MESP2 LFNG HES7 DLL3
6 mandibulofacial dysostosis, guion-almeida type 34.5 SF3B4 EFTUD2
7 acrofacial dysostosis 34.5 SF3B4 POLR1A EVC2 EVC EFTUD2 DHODH
8 diamond-blackfan anemia 15 with mandibulofacial dysostosis 34.4 TSR2 RPS28
9 spondylocostal dysostosis, autosomal recessive 34.1 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
10 crouzon syndrome 34.0 RUNX2 FGFR2 ALX4
11 treacher collins syndrome 1 33.9 SF3B4 POLR1A EFTUD2 DHODH
12 synostosis 33.0 SF3B4 RUNX2 FGFR2 ALX4
13 saethre-chotzen syndrome 32.7 RUNX2 FGFR2 ALX4
14 scoliosis 31.3 TBX6 RUNX2 RIPPLY2 MESP2 LFNG HES7
15 cleft palate, isolated 31.1 RUNX2 FGFR2 EFTUD2 ALX4
16 apert syndrome 31.1 RUNX2 FGFR2 ALX4
17 chromosome 2q35 duplication syndrome 31.0 FGFR2 EVC ALX4
18 widow's peak 30.9 ZSWIM6 ALX4
19 radioulnar synostosis 30.8 SF3B4 FGFR2 EFTUD2
20 spina bifida occulta 30.8 MESP2 HES7
21 parietal foramina 30.7 ZSWIM6 RUNX2 ALX4
22 tooth agenesis 30.7 RUNX2 FGFR2 EVC2 EVC
23 endosteal hyperostosis, autosomal dominant 30.7 MESP2 LFNG DLL3
24 facial cleft 30.5 ZSWIM6 ALX4
25 spinal disease 30.5 TBX6 RIPPLY2 MESP2 HES7
26 humeroradial synostosis 30.5 SF3B4 FGFR2
27 syndromic craniosynostosis 30.4 RUNX2 FGFR2
28 meningocele 30.1 MESP2 HES7
29 postaxial acrofacial dysostosis 12.7
30 mandibulofacial dysostosis with alopecia 12.6
31 acrofacial dysostosis syndrome of rodriguez 12.6
32 acrofacial dysostosis, catania type 12.6
33 acromelic frontonasal dysostosis 12.6
34 acrofacial dysostosis, cincinnati type 12.6
35 acrofacial dysostosis, palagonia type 12.6
36 acrofrontofacionasal dysostosis 12.6
37 spondylocostal dysostosis 2, autosomal recessive 12.5
38 hypomandibular faciocranial dysostosis 12.5
39 spondylocostal dysostosis 6, autosomal recessive 12.5
40 spondylocostal dysostosis 4, autosomal recessive 12.5
41 acrofrontofacionasal dysostosis 2 12.5
42 craniofacial dysostosis with diaphyseal hyperplasia 12.5
43 oculomaxillofacial dysostosis 12.4
44 peripheral dysostosis 12.4
45 split-foot deformity with mandibulofacial dysostosis 12.4
46 acrofrontofacionasal dysostosis 1 12.4
47 spondylospinal thoracic dysostosis 12.4
48 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.3
49 acrofacial dysostosis, patagonia type 12.3
50 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 12.2

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
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 ALX4 DLL3 EDNRA EFTUD2 EVC EVC2
2 embryo MP:0005380 10.15 ALX4 DHODH DLL3 EDNRA EFTUD2 FGFR2
3 mortality/aging MP:0010768 10.06 ALX4 DHODH DLL3 EDNRA EFTUD2 EVC
4 limbs/digits/tail MP:0005371 10 ALX4 DLL3 EVC EVC2 FGFR2 HES7
5 craniofacial MP:0005382 9.95 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
6 muscle MP:0005369 9.5 ALX4 DLL3 EDNRA FGFR2 MESP2 RIPPLY2
7 skeleton MP:0005390 9.47 ALX4 CHST3 DHODH DLL3 EDNRA 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
Calcium Approved, Nutraceutical 7440-70-2 271
2 Calcium, Dietary

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 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
3 A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients Completed NCT00498420
4 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
5 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298712
6 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
7 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673

Search NIH Clinical Center for Dysostosis

Cochrane evidence based reviews: dysostoses

Genetic Tests for Dysostosis

Anatomical Context for Dysostosis

MalaCards organs/tissues related to Dysostosis:

40
Bone, Heart, Kidney, Eye, Bone Marrow, Brain, Skin

Publications for Dysostosis

Articles related to Dysostosis:

(show top 50) (show all 2301)
# Title Authors PMID Year
1
Mutated MESP2 causes spondylocostal dysostosis in humans. 54 61
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. 54 61
12746394 2003
3
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. 54 61
11118901 2001
4
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 54 61
10742114 2000
5
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 54 61
10700184 2000
6
Ichthyosis: the skin manifestation of multiple sulfatase deficiency. 54 61
9336808 1997
7
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. 61
32024277 2020
8
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse. 61
31900962 2020
9
Upper Limb Ischaemia Caused by Cleidocranial Dysostosis. 61
31902659 2020
10
Anaesthetic management of a parturient with spondylothoracic dysostosis. 61
31980478 2020
11
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. 61
31806011 2019
12
Catel-Manzke syndrome without Manzke dysostosis. 61
31833187 2019
13
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. 61
31880412 2019
14
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. 61
31509347 2019
15
Disease modeling of core pre-mRNA splicing factor haploinsufficiency. 61
31304552 2019
16
Otopathology in Kleefstra Syndrome: A Case Report. 61
31750954 2019
17
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. 61
31649276 2019
18
Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review. 61
31949350 2019
19
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. 61
31015262 2019
20
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis. 61
31448202 2019
21
Erosive pustular dermatosis of the scalp in an adolescent with near-total hair regrowth: Case report and review of the literature. 61
31355463 2019
22
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2. 61
31318164 2019
23
Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses. 61
31741810 2019
24
An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells. 61
31461642 2019
25
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. 61
31421288 2019
26
Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 61
31348356 2019
27
Discussion: Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 61
31348357 2019
28
Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study. 61
31485554 2019
29
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 61
31413053 2019
30
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review. 61
31064022 2019
31
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. 61
31009684 2019
32
Jean-Charles Chatelin (1884-1948), counted among the "Righteous", but forgotten as a neurologist who studied under Pierre Marie. 61
31279440 2019
33
Quantitative anatomy of the primary ossification center in the fetal pubis bone. 61
30927034 2019
34
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series. 61
30921094 2019
35
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. 61
30957429 2019
36
Cleidocranial Dysplasia in a 10-year-old Child: A Case Report. 61
31866723 2019
37
Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method. 61
30817519 2019
38
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings. 61
30755342 2019
39
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
40
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. 61
30343593 2019
41
Chromosomal imbalance in pigs showing a syndromic form of cleft palate. 61
31068123 2019
42
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. 61
30740618 2019
43
Multidisciplinary Implant Rehabilitation of a Patient with Cleidocranial Dysostosis: A Journey from Age 13 to 21. 61
30793425 2019
44
Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery. 61
30661728 2019
45
Craniofacial Microsomia. 61
30851752 2019
46
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. 61
30408610 2019
47
Identification of novel LFNG mutations in spondylocostal dysostosis. 61
30531807 2019
48
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. 61
30653816 2019
49
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up. 61
30448585 2019
50
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. 61
30658664 2019

Variations for Dysostosis

Expression for Dysostosis

Search GEO for disease gene expression data for Dysostosis.

Pathways for Dysostosis

Pathways related to Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 TBX6 FGFR2 DLL3
2 10.06 TBX6 RIPPLY2 MESP2 LFNG HES7

GO Terms for Dysostosis

Cellular components related to Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane protein complex GO:0098797 8.62 EVC2 EVC

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.91 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
2 skeletal system morphogenesis GO:0048705 9.5 RUNX2 FGFR2 ALX4
3 embryonic pattern specification GO:0009880 9.49 RIPPLY2 FGFR2
4 post-anal tail morphogenesis GO:0036342 9.48 RIPPLY2 HES7
5 regulation of osteoblast differentiation GO:0045667 9.46 RUNX2 FGFR2
6 Notch signaling pathway GO:0007219 9.46 RIPPLY2 MESP2 HES7 DLL3
7 somite rostral/caudal axis specification GO:0032525 9.43 TBX6 RIPPLY2
8 endochondral bone growth GO:0003416 9.4 FGFR2 EVC
9 skeletal system development GO:0001501 9.35 RUNX2 HES7 EVC DLL3 ALX4
10 compartment pattern specification GO:0007386 9.26 LFNG DLL3
11 somitogenesis GO:0001756 9.02 RIPPLY2 MESP2 LFNG HES7 DLL3

Sources for Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....