MCID: DYS018
MIFTS: 43

Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysostosis

MalaCards integrated aliases for Dysostosis:

Name: Dysostosis 12 73 58 54 15
Dysostoses 44 70

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1934
MeSH 44 D004413
NCIt 50 C34560
SNOMED-CT 67 109420003
UMLS via Orphanet 71 C0013393
Orphanet 58 ORPHA364559
UMLS 70 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 3, autosomal recessive. 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 Povidone-iodine and Povidone 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 mortality/aging

Wikipedia : 73 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 506)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 33.2 TCOF1 SF3B4 EFTUD2
2 spondylocostal dysostosis 3, autosomal recessive 33.2 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
3 spondylocostal dysostosis 5 33.1 TBX6 MESP2 HES7
4 spondylocostal dysostosis 1, autosomal recessive 32.9 MESP2 LFNG HES7 DLL3
5 postaxial acrofacial dysostosis 32.9 TCOF1 SF3B4 EFTUD2 DHODH
6 mandibulofacial dysostosis, guion-almeida type 32.9 SF3B4 EFTUD2
7 acrofacial dysostosis, cincinnati type 32.8 TCOF1 POLR1A
8 crouzon syndrome 32.7 TCOF1 RUNX2 FGFR2 ALX4
9 treacher collins syndrome 1 32.6 TCOF1 SF3B4 POLR1A EFTUD2 DHODH
10 acrofacial dysostosis 32.6 TCOF1 SF3B4 POLR1A EVC2 EVC EFTUD2
11 spondylocostal dysostosis, autosomal recessive 32.3 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
12 synostosis 31.8 SF3B4 RUNX2 FGFR2 ALX4
13 saethre-chotzen syndrome 31.8 RUNX2 FGFR2 ALX4
14 hemifacial microsomia 31.5 TCOF1 EFTUD2
15 microtia 31.0 TCOF1 EFTUD2
16 scoliosis 30.9 TBX6 RUNX2 RIPPLY2 MESP2 LFNG HES7
17 cleft palate, isolated 30.9 TSR2 TCOF1 SF3B4 RUNX2 FGFR2 EVC2
18 apert syndrome 30.7 RUNX2 FGFR2 ALX4
19 widow's peak 30.5 ZSWIM6 ALX4
20 spina bifida occulta 30.5 MESP2 HES7
21 meningocele 30.5 MESP2 HES7
22 radioulnar synostosis 30.4 SF3B4 FGFR2 EFTUD2
23 burn-mckeown syndrome 30.4 SF3B4 POLR1A EFTUD2
24 tooth agenesis 30.3 RUNX2 FGFR2 EVC2 EVC
25 parietal foramina 30.3 ZSWIM6 RUNX2 ALX4
26 facial cleft 30.2 ZSWIM6 ALX4
27 humeroradial synostosis 30.1 SF3B4 FGFR2
28 syndromic craniosynostosis 30.1 RUNX2 FGFR2
29 orofacial cleft 29.9 TCOF1 RUNX2 FGFR2 EVC2 ALX4
30 weyers acrofacial dysostosis 11.7
31 acromelic frontonasal dysostosis 11.5
32 cleidocranial dysplasia 11.5
33 acrofrontofacionasal dysostosis 11.5
34 acrofacial dysostosis syndrome of rodriguez 11.5
35 mandibulofacial dysostosis with alopecia 11.5
36 acrofacial dysostosis, catania type 11.5
37 spondylocostal dysostosis 2, autosomal recessive 11.4
38 spondyloepiphyseal dysplasia with congenital joint dislocations 11.4
39 acrofacial dysostosis, palagonia type 11.4
40 spondylocostal dysostosis 4, autosomal recessive 11.4
41 spondylocostal dysostosis 6, autosomal recessive 11.4
42 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.4
43 craniofacial dysostosis with diaphyseal hyperplasia 11.4
44 acrofrontofacionasal dysostosis 2 11.4
45 fontaine progeroid syndrome 11.3
46 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.3
47 peripheral dysostosis 11.3
48 oculomaxillofacial dysostosis 11.3
49 branchial arch syndrome, x-linked 11.3
50 hypomandibular faciocranial dysostosis 11.3

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to Dysostosis

Symptoms & Phenotypes for Dysostosis

MGI Mouse Phenotypes related to Dysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ALX4 DLL3 EDNRA EFTUD2 EVC EVC2
2 mortality/aging MP:0010768 10.32 ALX4 DHODH DLL3 EDNRA EFTUD2 EVC
3 embryo MP:0005380 10.27 ALX4 DHODH DLL3 EDNRA EFTUD2 FGFR2
4 limbs/digits/tail MP:0005371 10.22 ALX4 DLL3 EVC EVC2 FGFR2 HES7
5 craniofacial MP:0005382 10.13 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
6 nervous system MP:0003631 10.03 ALX4 CHST3 DLL3 EDNRA FGFR2 LFNG
7 muscle MP:0005369 9.87 ALX4 DLL3 EDNRA FGFR2 MESP2 RIPPLY2
8 reproductive system MP:0005389 9.81 CHST3 DLL3 EFTUD2 EVC FGFR2 LFNG
9 skeleton MP:0005390 9.53 ALX4 CHST3 DLL3 EDNRA EVC EVC2
10 respiratory system MP:0005388 9.5 ALX4 EDNRA FGFR2 LFNG RIPPLY2 RUNX2

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
Povidone-iodine Approved 25655-41-8
2
Povidone Approved 9003-39-8 131751496
3
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
4
Iodine Approved, Investigational 7553-56-2 807
5
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
6
Cadexomer iodine Experimental 94820-09-4
7 Calcium, Dietary
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 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
3 Ultrasound-guided Superficial Cervical Plexus Block for Pain Management After Orthognathic Surgery. Recruiting NCT04442009
4 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647

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 2389)
# 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. 61 54
12746394 2003
3
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. 61 54
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
[Obstructive sleep apnea in microtia children with maxillofacial dysostosis]. 61
33794641 2021
8
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6. 61
33410135 2021
9
Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report. 61
33725872 2021
10
Intraocular Migration of Porous Polyethylene Malar Implant Used for Treacher Collins Eyelid Reconstruction. 61
32732546 2021
11
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis. 61
33776626 2021
12
Clinical and molecular delineation of spondylocostal dysostosis type 3. 61
33728697 2021
13
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort. 61
33728250 2021
14
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review. 61
33488893 2021
15
Morquio B disease: From pathophysiology towards diagnosis. 61
33558080 2021
16
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. 61
33247512 2021
17
[Clinical case: approach to the difficult airway in neonatology. Treacher-Collins syndrome]. 61
33458990 2021
18
Posterior fossa subdural hematoma in a neonate with cleidocranial dysostosis after a spontaneous vaginal delivery: a case report. 61
32504170 2021
19
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. 61
33130340 2021
20
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. 61
33559401 2021
21
Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. 61
33553934 2021
22
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. 61
33601405 2021
23
Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis. 61
33572886 2021
24
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT). 61
33517895 2021
25
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. 61
33252156 2021
26
The Role of the U5 snRNP in Genetic Disorders and Cancer. 61
33584830 2021
27
Mongolian spots in GM1 gangliosidosis: a pictorial report. 61
33038107 2021
28
Congenital nasolacrimal duct obstruction update study (CUP study): Paper II - Profile and outcomes of complex CNLDO and masquerades. 61
33068946 2020
29
Gene testing in Treacher Collins syndrome 61
33361506 2020
30
Diseases related to Notch glycosylation. 61
33341260 2020
31
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. 61
33058178 2020
32
Functional outcomes in patients with facial dysostosis and severe upper airway obstruction. 61
33334637 2020
33
High-flow nasal cannula therapy in a case of spondylocostal dysostosis type 2. 61
33089894 2020
34
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex. 61
33266180 2020
35
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. 61
33266441 2020
36
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. 61
32541334 2020
37
Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle. 61
33105751 2020
38
Dental and maxillofacial features of condylo-mandibular dysplasia: A case series of 21 patients. 61
32773219 2020
39
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes. 61
32351010 2020
40
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. 61
32537850 2020
41
Mucolipidoses Overview: Past, Present, and Future. 61
32957425 2020
42
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. 61
32943010 2020
43
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
44
A dominant vimentin variant causes a rare syndrome with premature aging. 61
32066935 2020
45
Spliceosomopathies: Diseases and mechanisms. 61
32506634 2020
46
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome. 61
32543076 2020
47
Otopathology in Kleefstra Syndrome: A Case Report. 61
31750954 2020
48
First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly. 61
32799722 2020
49
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. 61
32333448 2020
50
Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease. 61
32780955 2020

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:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.86 TBX6 RIPPLY2 MESP2 LFNG HES7 FGFR2
2 Notch signaling pathway GO:0007219 9.62 RIPPLY2 MESP2 HES7 DLL3
3 skeletal system morphogenesis GO:0048705 9.54 RUNX2 FGFR2 ALX4
4 neural crest cell development GO:0014032 9.48 TCOF1 EDNRA
5 post-anal tail morphogenesis GO:0036342 9.46 RIPPLY2 HES7
6 regulation of osteoblast differentiation GO:0045667 9.43 RUNX2 FGFR2
7 endochondral bone growth GO:0003416 9.4 FGFR2 EVC
8 somite rostral/caudal axis specification GO:0032525 9.33 TBX6 RIPPLY2 MESP2
9 somitogenesis GO:0001756 9.26 RIPPLY2 LFNG HES7 DLL3
10 skeletal system development GO:0001501 9.1 TCOF1 RUNX2 HES7 EVC DLL3 ALX4

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.02 TBX6 RUNX2 MESP2 HES7 ALX4

Sources for Dysostosis

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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