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MCID: CRN297
MIFTS: 9

Craniosynostosis with Ectopia Lentis

Genes Tissues Related diseases Publications
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Aliases & Classifications for Craniosynostosis with Ectopia Lentis

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MalaCards integrated aliases for Craniosynostosis with Ectopia Lentis:

Name: Craniosynostosis with Ectopia Lentis 56

External Ids:

OMIM 56 603595
MedGen 41 C1863678
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Summaries for Craniosynostosis with Ectopia Lentis

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

More information from OMIM: 603595
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Related Diseases for Craniosynostosis with Ectopia Lentis

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

# Related Disease Score Top Affiliating Genes
1 joint laxity, short stature, and myopia 10.3
2 isolated ectopia lentis 10.3
3 myopia 10.3
4 synostosis 10.3
5 craniosynostosis 10.3
6 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
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Symptoms & Phenotypes for Craniosynostosis with Ectopia Lentis

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Clinical features from OMIM:

603595
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Drugs & Therapeutics for Craniosynostosis with Ectopia Lentis

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

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Genetic Tests for Craniosynostosis with Ectopia Lentis

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Anatomical Context for Craniosynostosis with Ectopia Lentis

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MalaCards organs/tissues related to Craniosynostosis with Ectopia Lentis:

40
Heart
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Publications for Craniosynostosis with Ectopia Lentis

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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
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Variations for Craniosynostosis with Ectopia Lentis

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Expression for Craniosynostosis with Ectopia Lentis

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

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GO Terms for Craniosynostosis with Ectopia Lentis

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Sources for Craniosynostosis with Ectopia Lentis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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