MCID: ACR121
MIFTS: 11

Acromelic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acromelic Dysplasia

MalaCards integrated aliases for Acromelic Dysplasia:

Name: Acromelic Dysplasia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q74.8
Orphanet 58 ORPHA93436

Summaries for Acromelic Dysplasia

MalaCards based summary : Acromelic Dysplasia is related to angel-shaped phalangoepiphyseal dysplasia and geleophysic dysplasia. An important gene associated with Acromelic Dysplasia is FBN1 (Fibrillin 1).

Related Diseases for Acromelic Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 angel-shaped phalangoepiphyseal dysplasia 11.1
2 geleophysic dysplasia 10.2
3 acromicric dysplasia 10.1
4 weill-marchesani syndrome 10.1
5 marfan syndrome 10.0
6 isolated ectopia lentis 10.0
7 mitral valve stenosis 10.0
8 tracheal stenosis 10.0
9 mitral valve disease 10.0
10 skeletal dysplasias 10.0

Graphical network of the top 20 diseases related to Acromelic Dysplasia:



Diseases related to Acromelic Dysplasia

Symptoms & Phenotypes for Acromelic Dysplasia

Drugs & Therapeutics for Acromelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Acromelic Dysplasia

Genetic Tests for Acromelic Dysplasia

Anatomical Context for Acromelic Dysplasia

Publications for Acromelic Dysplasia

Articles related to Acromelic Dysplasia:

(show all 19)
# Title Authors PMID Year
1
Separation in genetic pathogenesis of mutations in FBN1-TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome. 61
33030311 2020
2
Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins. 61
32880985 2020
3
Fibrillin protein pleiotropy: Acromelic dysplasias. 61
30219651 2019
4
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 61
29191498 2018
5
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. 61
30057829 2018
6
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. 61
28917829 2017
7
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. 61
28696036 2017
8
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia. 61
28077185 2017
9
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61
27068007 2016
10
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 61
27245183 2016
11
Dullard/Ctdnep1 regulates endochondral ossification via suppression of TGF-β signaling. 61
25155999 2015
12
Chondrodysplasias and TGFβ signaling. 61
25798233 2015
13
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. 61
25142510 2014
14
Novel mutations in geleophysic dysplasia type 1. 61
24251637 2014
15
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 61
23897642 2013
16
From tall to short: the role of TGFβ signaling in growth and its disorders. 61
22791552 2012
17
The ADAMTS(L) family and human genetic disorders. 61
21880666 2011
18
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 61
21683322 2011
19
Genetic and molecular aspects of acromelic dysplasia. 61
19396027 2009

Variations for Acromelic Dysplasia

Expression for Acromelic Dysplasia

Search GEO for disease gene expression data for Acromelic Dysplasia.

Pathways for Acromelic Dysplasia

GO Terms for Acromelic Dysplasia

Sources for Acromelic Dysplasia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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