MCID: CRN297
MIFTS: 10

Craniosynostosis with Ectopia Lentis

Aliases & Classifications for Craniosynostosis with Ectopia Lentis

MalaCards integrated aliases for Craniosynostosis with Ectopia Lentis:

Name: Craniosynostosis with Ectopia Lentis 56

External Ids:

OMIM 56 603595
MedGen 41 C1863678

Summaries for Craniosynostosis with Ectopia Lentis

MalaCards based summary : Craniosynostosis with Ectopia Lentis is related to isolated ectopia lentis and myopia. An important gene associated with Craniosynostosis with Ectopia Lentis is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include heart and eye.

More information from OMIM: 603595

Related Diseases for Craniosynostosis with Ectopia Lentis

Diseases related to Craniosynostosis with Ectopia Lentis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 10.3
2 myopia 10.3
3 synostosis 10.3
4 craniosynostosis 10.3
5 adamtsl4-related eye disorders 10.3

Graphical network of the top 20 diseases related to Craniosynostosis with Ectopia Lentis:



Diseases related to Craniosynostosis with Ectopia Lentis

Symptoms & Phenotypes for Craniosynostosis with Ectopia Lentis

Clinical features from OMIM:

603595

Drugs & Therapeutics for Craniosynostosis with Ectopia Lentis

Search Clinical Trials , NIH Clinical Center for Craniosynostosis with Ectopia Lentis

Genetic Tests for Craniosynostosis with Ectopia Lentis

Anatomical Context for Craniosynostosis with Ectopia Lentis

MalaCards organs/tissues related to Craniosynostosis with Ectopia Lentis:

40
Heart, Eye

Publications for Craniosynostosis with Ectopia Lentis

Articles related to Craniosynostosis with Ectopia Lentis:

# Title Authors PMID Year
1
Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance. 61 56
11807865 2002
2
Craniosynostosis and ectopia lentis in a propositus whose parents are cousins. 56
15704181 2005
3
Craniosynostosis associated with ectopia lentis in monozygotic twin sisters. 56
10215540 1999
4
Oxycephaly, bilateral ectopia lentis, and retinal detachment. 56
1570930 1992
5
[Craniofacial dysostosis with displacement of the crystalline lens]. 56
15433461 1950
6
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. 61
22871183 2013

Variations for Craniosynostosis with Ectopia Lentis

Expression for Craniosynostosis with Ectopia Lentis

Search GEO for disease gene expression data for Craniosynostosis with Ectopia Lentis.

Pathways for Craniosynostosis with Ectopia Lentis

GO Terms for Craniosynostosis with Ectopia Lentis

Sources for Craniosynostosis with Ectopia Lentis

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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