MCID: DRM015
MIFTS: 19

Dermoids of Cornea

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Dermoids of Cornea

MalaCards integrated aliases for Dermoids of Cornea:

Name: Dermoids of Cornea 53 49
Cnd 53 49
Corneal Dystrophy Epithelial-Short Stature Syndrome 55
Guízar Vázquez-Luengas-Muñoz Syndrome 55
X-Linked Corneal Dermoid 55

Characteristics:

Orphanet epidemiological data:

55
x-linked corneal dermoid
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
x-linked


HPO:

31
dermoids of cornea:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 304730
Orphanet 55 ORPHA1661
UMLS via Orphanet 70 C1844671
ICD10 via Orphanet 33 Q13.4
MedGen 39 C1844671

Summaries for Dermoids of Cornea

MalaCards based summary : Dermoids of Cornea, also known as cnd, is related to ring dermoid of cornea and thyroid cancer, and has symptoms including visual impairment, visual loss and corneal opacity. An important gene associated with Dermoids of Cornea is CND (Corneal Dermoids). Affiliated tissues include eye.

Description 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 ring dermoid of cornea 12.5
2 thyroid cancer 10.1
3 thyroiditis 10.1

Symptoms & Phenotypes for Dermoids of Cornea

Symptoms via clinical synopsis from OMIM:

53
Eyes:
corneal dermoid
congenital opaque corneas


Clinical features from OMIM:

304730

Human phenotypes related to Dermoids of Cornea:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
3 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
4 abnormality of the pupil 55 Frequent (79-30%)
5 abnormality of the eye 31 HP:0000478
6 abnormal pupil morphology 31 frequent (33%) HP:0000615

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:

38
Eye

Publications for Dermoids of Cornea

Articles related to Dermoids of Cornea:

# Title Authors Year
1
Impact of lymph node metastases identified on central neck dissection (CND) on the recurrence of papillary thyroid cancer: potential role of BRAFV600E mutation in defining CND. ( 23132792 )
2013

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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