MCID: PRT091
MIFTS: 23

Partial Cryptophthalmia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Partial Cryptophthalmia

MalaCards integrated aliases for Partial Cryptophthalmia:

Name: Partial Cryptophthalmia 12 58 15
Incomplete Cryptophthalmos 12

Characteristics:

Orphanet epidemiological data:

58
partial cryptophthalmia
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111718
ICD10 via Orphanet 33 Q11.2
Orphanet 58 ORPHA98950

Summaries for Partial Cryptophthalmia

Disease Ontology : 12 An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea.

MalaCards based summary : Partial Cryptophthalmia, also known as incomplete cryptophthalmos, is related to cryptophthalmos and fraser syndrome 1. An important gene associated with Partial Cryptophthalmia is FREM1 (FRAS1 Related Extracellular Matrix 1), and among its related pathways/superpathways are Phospholipase-C Pathway and ECM-receptor interaction. Affiliated tissues include eye, and related phenotypes are integument and limbs/digits/tail

Related Diseases for Partial Cryptophthalmia

Graphical network of the top 20 diseases related to Partial Cryptophthalmia:



Diseases related to Partial Cryptophthalmia

Symptoms & Phenotypes for Partial Cryptophthalmia

MGI Mouse Phenotypes related to Partial Cryptophthalmia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.72 DCT EGR1 FRAS1 FREM1 FREM2
2 limbs/digits/tail MP:0005371 9.56 EGR1 FRAS1 FREM1 FREM2
3 nervous system MP:0003631 9.55 DCT EGR1 FLVCR2 FREM1 FREM2
4 respiratory system MP:0005388 9.35 EGR1 FLVCR2 FRAS1 FREM1 FREM2
5 vision/eye MP:0005391 9.02 DCT EGR1 FRAS1 FREM1 FREM2

Drugs & Therapeutics for Partial Cryptophthalmia

Search Clinical Trials , NIH Clinical Center for Partial Cryptophthalmia

Genetic Tests for Partial Cryptophthalmia

Anatomical Context for Partial Cryptophthalmia

MalaCards organs/tissues related to Partial Cryptophthalmia:

40
Eye

Publications for Partial Cryptophthalmia

Articles related to Partial Cryptophthalmia:

# Title Authors PMID Year
1
Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome. 61
25811163 2017
2
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features. 61
23112756 2012
3
A surgical strategy for the correction of Fraser syndrome cryptophthalmos. 61
19643480 2009
4
[Description of palpebral involvement in Fraser's syndrome]. 61
10510755 1999
5
Surgical reconstruction in cryptophthalmos. 61
9577313 1998
6
Surgical correction of incomplete cryptophthalmos in Fraser syndrome. 61
9222242 1997
7
Oral mucous membrane grafts for corneal protection to permit prosthetic shell wear. 61
9076783 1997
8
[Apropos of a case of incomplete cryptophthalmos]. 61
9827095 1996
9
Orbito-palpebral reconstruction in two cases of incomplete cryptophthalmos. 61
1457072 1992

Variations for Partial Cryptophthalmia

Expression for Partial Cryptophthalmia

Search GEO for disease gene expression data for Partial Cryptophthalmia.

Pathways for Partial Cryptophthalmia

Pathways related to Partial Cryptophthalmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 FREM2 FREM1 FRAS1
2
Show member pathways
10.99 FREM2 FREM1 FRAS1
3 10.03 FREM2 FREM1 FRAS1

GO Terms for Partial Cryptophthalmia

Cellular components related to Partial Cryptophthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 FREM2 FREM1 FRAS1

Biological processes related to Partial Cryptophthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 morphogenesis of an epithelium GO:0002009 8.96 FREM2 FRAS1
2 cell communication GO:0007154 8.8 FREM2 FREM1 FRAS1

Molecular functions related to Partial Cryptophthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.02 FREM2 FREM1 FRAS1 EGR1 DCT

Sources for Partial Cryptophthalmia

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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