MCID: MLF005
MIFTS: 6

Malformation Syndrome with Short Stature

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Malformation Syndrome with Short Stature

MalaCards integrated aliases for Malformation Syndrome with Short Stature:

Name: Malformation Syndrome with Short Stature 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA139021

Summaries for Malformation Syndrome with Short Stature

MalaCards based summary : Malformation Syndrome with Short Stature is related to genetic malformation syndrome with short stature and holt-oram syndrome. An important gene associated with Malformation Syndrome with Short Stature is TBX5 (T-Box Transcription Factor 5).

Related Diseases for Malformation Syndrome with Short Stature

Diseases related to Malformation Syndrome with Short Stature via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 genetic malformation syndrome with short stature 12.4
2 holt-oram syndrome 9.9
3 aortic valve insufficiency 9.9
4 quadricuspid aortic valve 9.9

Symptoms & Phenotypes for Malformation Syndrome with Short Stature

Drugs & Therapeutics for Malformation Syndrome with Short Stature

Search Clinical Trials , NIH Clinical Center for Malformation Syndrome with Short Stature

Genetic Tests for Malformation Syndrome with Short Stature

Anatomical Context for Malformation Syndrome with Short Stature

Publications for Malformation Syndrome with Short Stature

Articles related to Malformation Syndrome with Short Stature:

# Title Authors PMID Year
1
A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family. 61
12210327 2002
2
Guadalajara camptodactyly syndrome type II. 61
4040823 1985

Variations for Malformation Syndrome with Short Stature

Expression for Malformation Syndrome with Short Stature

Search GEO for disease gene expression data for Malformation Syndrome with Short Stature.

Pathways for Malformation Syndrome with Short Stature

GO Terms for Malformation Syndrome with Short Stature

Sources for Malformation Syndrome with Short Stature

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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