CND
MCID: DRM015
MIFTS: 18

Dermoids of Cornea (CND)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Dermoids of Cornea

MalaCards integrated aliases for Dermoids of Cornea:

Name: Dermoids of Cornea 57 20 13
Cnd 57 20
Corneal Dystrophy Epithelial-Short Stature Syndrome 58
Guizar Vazquez-Luengas-Munoz Syndrome 58
X-Linked Corneal Dermoid 58

Characteristics:

Orphanet epidemiological data:

58
x-linked corneal dermoid
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
dermoids of cornea:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 304730
ICD10 via Orphanet 33 Q13.4
UMLS via Orphanet 71 C1844671
Orphanet 58 ORPHA1661
MedGen 41 C1844671

Summaries for Dermoids of Cornea

MalaCards based summary : Dermoids of Cornea, also known as cnd, is related to helix syndrome and agenesis of corpus callosum, cardiac, ocular, and genital syndrome. An important gene associated with Dermoids of Cornea is CND (Corneal Dermoids). Affiliated tissues include eye, and related phenotypes are corneal opacity and abnormal pupil morphology

More information from OMIM: 304730

Related Diseases for Dermoids of Cornea

Diseases related to Dermoids of Cornea via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 helix syndrome 10.0
2 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0

Symptoms & Phenotypes for Dermoids of Cornea

Human phenotypes related to Dermoids of Cornea:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
2 abnormal pupil morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000615
3 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
4 visual impairment 58 Very frequent (99-80%)
5 abnormality of the eye 31 HP:0000478

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
corneal dermoid
congenital opaque corneas

Clinical features from OMIM®:

304730 (Updated 05-Apr-2021)

Drugs & Therapeutics for Dermoids of Cornea

Search Clinical Trials , NIH Clinical Center for Dermoids of Cornea

Genetic Tests for Dermoids of Cornea

Anatomical Context for Dermoids of Cornea

MalaCards organs/tissues related to Dermoids of Cornea:

40
Eye

Publications for Dermoids of Cornea

Articles related to Dermoids of Cornea:

# Title Authors PMID Year
1
Potential mapping of corneal dermoids to Xq24-qter. 57
11594343 2001
2
Brief clinical report: corneal dermoids and short stature in brother and sister--a new syndrome? 57
7282777 1981
3
Bilateral corneal dermoids. 57
4759856 1973

Variations for Dermoids of Cornea

Expression for Dermoids of Cornea

Search GEO for disease gene expression data for Dermoids of Cornea.

Pathways for Dermoids of Cornea

GO Terms for Dermoids of Cornea

Sources for Dermoids of Cornea

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