MCID: DYS018
MIFTS: 44

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
SNOMED-CT 67 109420003
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 spondylocostal dysostosis 3, autosomal recessive and postaxial acrofacial dysostosis. 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 Inhibition of Ribosome Biogenesis by p14(ARF). The drugs Fentanyl and Iodine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and bone marrow, 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 505)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 34.9 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
2 postaxial acrofacial dysostosis 34.9 SF3B4 EFTUD2 DHODH
3 spondylocostal dysostosis 5 34.9 TBX6 HES7
4 spondylocostal dysostosis 1, autosomal recessive 34.8 MESP2 LFNG HES7 DLL3
5 mandibulofacial dysostosis, guion-almeida type 34.6 SF3B4 EFTUD2
6 acrofacial dysostosis 34.6 SF3B4 POLR1A EVC2 EVC EFTUD2 DHODH
7 spondylocostal dysostosis, autosomal recessive 34.2 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
8 crouzon syndrome 34.0 TWIST1 RUNX2 FGFR2 ALX4
9 treacher collins syndrome 1 34.0 TSR2 SF3B4 POLR1A EFTUD2
10 synostosis 33.0 TWIST1 SF3B4 RUNX2 FGFR2 ALX4
11 saethre-chotzen syndrome 32.7 TWIST1 RUNX2 FGFR2 ALX4
12 sweeney-cox syndrome 32.7 TWIST1 POLR1A
13 hypertelorism 31.6 TWIST1 FGFR2 ALX4
14 cleft palate, isolated 31.3 TWIST1 SF3B4 RUNX2 FGFR2 EVC2 EFTUD2
15 scoliosis 31.3 TBX6 RUNX2 RIPPLY2 MESP2 LFNG HES7
16 craniosynostosis 31.2 TWIST1 RUNX2 FGFR2 ALX4
17 chromosome 2q35 duplication syndrome 31.1 TWIST1 FGFR2 EVC
18 apert syndrome 31.1 TWIST1 RUNX2 FGFR2 ALX4
19 plagiocephaly 31.0 TWIST1 FGFR2
20 widow's peak 30.9 ZSWIM6 ALX4
21 spina bifida occulta 30.8 MESP2 HES7
22 radioulnar synostosis 30.8 TWIST1 SF3B4 FGFR2
23 tooth agenesis 30.8 RUNX2 FGFR2 EVC2 EVC
24 endosteal hyperostosis, autosomal dominant 30.7 MESP2 LFNG DLL3
25 parietal foramina 30.7 ZSWIM6 TWIST1 RUNX2 ALX4
26 facial cleft 30.6 ZSWIM6 ALX4
27 meningocele 30.6 MESP2 HES7
28 syndromic craniosynostosis 30.5 TWIST1 RUNX2 FGFR2
29 humeroradial synostosis 30.5 SF3B4 FGFR2
30 orofacial cleft 30.4 RUNX2 FGFR2 EVC2 ALX4
31 pfeiffer syndrome 30.3 TWIST1 RUNX2 FGFR2
32 ventricular septal defect 30.2 TWIST1 FGFR2 EVC
33 acrofacial dysostosis 1, nager type 12.8
34 weyers acrofacial dysostosis 12.8
35 mandibulofacial dysostosis with alopecia 12.6
36 acrofacial dysostosis syndrome of rodriguez 12.6
37 acrofacial dysostosis, catania type 12.6
38 acromelic frontonasal dysostosis 12.6
39 acrofacial dysostosis, cincinnati type 12.6
40 acrofacial dysostosis, palagonia type 12.6
41 acrofrontofacionasal dysostosis 12.6
42 spondylocostal dysostosis 2, autosomal recessive 12.5
43 hypomandibular faciocranial dysostosis 12.5
44 spondylocostal dysostosis 6, autosomal recessive 12.5
45 spondylocostal dysostosis 4, autosomal recessive 12.5
46 acrofrontofacionasal dysostosis 2 12.5
47 craniofacial dysostosis with diaphyseal hyperplasia 12.5
48 oculomaxillofacial dysostosis 12.5
49 peripheral dysostosis 12.5
50 split-foot deformity with mandibulofacial dysostosis 12.4

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
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ALX4 DLL3 EDNRA EFTUD2 EVC EVC2
2 embryo MP:0005380 10.22 ALX4 DHODH DLL3 EDNRA EFTUD2 FGFR2
3 mortality/aging MP:0010768 10.21 ALX4 DHODH DLL3 EDNRA EFTUD2 EVC
4 limbs/digits/tail MP:0005371 10.13 ALX4 DLL3 EVC EVC2 FGFR2 HES7
5 craniofacial MP:0005382 10.09 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
6 muscle MP:0005369 9.76 ALX4 DLL3 EDNRA FGFR2 MESP2 RIPPLY2
7 nervous system MP:0003631 9.73 ALX4 CHST3 DLL3 EDNRA FGFR2 LFNG
8 skeleton MP:0005390 9.55 ALX4 CHST3 DHODH DLL3 EDNRA EVC

Drugs & Therapeutics for Dysostosis

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
2
Iodine Approved, Investigational 7553-56-2 807
3
Povidone Approved 9003-39-8
4
Povidone-iodine Approved 25655-41-8
5
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
6 Calcium, Dietary
7 cadexomer iodine
8
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 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 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
5 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
6 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298712
7 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298673
8 Ultrasound-guided Superficial Cervical Plexus Block for Pain Management After Orthognathic Surgery. Not yet recruiting NCT04442009

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

Publications for Dysostosis

Articles related to Dysostosis:

(show top 50) (show all 2324)
# 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. 61 54
9336808 1997
7
Prevention methods for Treacher Collins syndrome: A systematic review. 61
32361149 2020
8
Spliceosomopathies: diseases and mechanisms. 61
32506634 2020
9
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity. 61
32212228 2020
10
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. 61
32541334 2020
11
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome. 61
32543076 2020
12
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. 61
32537850 2020
13
Posterior fossa subdural hematoma in a neonate with cleidocranial dysostosis after a spontaneous vaginal delivery: a case report. 61
32504170 2020
14
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations). 61
32217860 2020
15
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea. 61
32408545 2020
16
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
17
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. 61
32133772 2020
18
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family. 61
32238606 2020
19
A novel familial mutation associated with Treacher Collins syndrome: A case report. 61
32257192 2020
20
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse. 61
31900962 2020
21
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway. 61
32232430 2020
22
Recapitulating the human segmentation clock with pluripotent stem cells. 61
32238941 2020
23
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. 61
32333448 2020
24
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. 61
31880412 2020
25
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes. 61
32351010 2020
26
Upper Limb Ischaemia Caused by Cleidocranial Dysostosis. 61
31902659 2020
27
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. 61
31421288 2020
28
Catel-Manzke syndrome without Manzke dysostosis. 61
31833187 2020
29
Bilateral presentation of different supernumerary teeth in nonsyndromic patients: case reports. 61
32105225 2020
30
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. 61
31649276 2020
31
A dominant vimentin variant causes a rare syndrome with premature aging. 61
32066935 2020
32
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
33
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex. 61
32071837 2020
34
Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene. 61
32256629 2020
35
Jean-Charles Chatelin (1884-1948), counted among the "Righteous", but forgotten as a neurologist who studied under Pierre Marie. 61
31279440 2020
36
Anaesthetic management of a parturient with spondylothoracic dysostosis. 61
31980478 2020
37
Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature. 61
32351741 2020
38
Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family. 61
32518573 2019
39
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. 61
31806011 2019
40
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. 61
31509347 2019
41
Disease modeling of core pre-mRNA splicing factor haploinsufficiency. 61
31304552 2019
42
Otopathology in Kleefstra Syndrome: A Case Report. 61
31750954 2019
43
Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review. 61
31949350 2019
44
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis. 61
31448202 2019
45
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
46
Erosive pustular dermatosis of the scalp in an adolescent with near-total hair regrowth: Case report and review of the literature. 61
31355463 2019
47
Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses. 61
31741810 2019
48
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
49
An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells. 61
31461642 2019
50
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review. 61
31064022 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 11.27 TWIST1 TBX6 FGFR2 DLL3
2 10.5 TWIST1 POLR1A
3 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 nuclear chromatin GO:0000790 9.43 TWIST1 TBX6 RUNX2 MESP2 HES7 ALX4
2 plasma membrane protein complex GO:0098797 8.62 EVC2 EVC

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.7 TWIST1 RUNX2 RIPPLY2
2 muscle organ development GO:0007517 9.69 TWIST1 EVC ALX4
3 skeletal system morphogenesis GO:0048705 9.63 RUNX2 FGFR2 ALX4
4 Notch signaling pathway GO:0007219 9.62 RIPPLY2 MESP2 HES7 DLL3
5 multicellular organism development GO:0007275 9.61 TWIST1 TBX6 RIPPLY2 MESP2 LFNG HES7
6 embryonic cranial skeleton morphogenesis GO:0048701 9.58 TWIST1 RUNX2 FGFR2
7 skeletal system development GO:0001501 9.55 RUNX2 HES7 EVC DLL3 ALX4
8 post-anal tail morphogenesis GO:0036342 9.54 RIPPLY2 HES7
9 embryonic forelimb morphogenesis GO:0035115 9.54 TWIST1 RUNX2 ALX4
10 regulation of osteoblast differentiation GO:0045667 9.49 RUNX2 FGFR2
11 endochondral bone growth GO:0003416 9.48 FGFR2 EVC
12 compartment pattern specification GO:0007386 9.43 LFNG DLL3
13 somite rostral/caudal axis specification GO:0032525 9.43 TBX6 RIPPLY2 MESP2
14 somitogenesis GO:0001756 9.02 RIPPLY2 MESP2 LFNG HES7 DLL3

Molecular functions related to Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 TWIST1 TBX6 RUNX2 MESP2 HES7 ALX4
2 bHLH transcription factor binding GO:0043425 8.96 TWIST1 RUNX2

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
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