MCID: DRM015
MIFTS: 18

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 57 53
Cnd 57 53
Corneal Dystrophy Epithelial-Short Stature Syndrome 59
Guízar Vázquez-Luengas-Muñoz Syndrome 59
X-Linked Corneal Dermoid 59

Characteristics:

Orphanet epidemiological data:

59
x-linked corneal dermoid
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked


HPO:

32
dermoids of cornea:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 304730
Orphanet 59 ORPHA1661
UMLS via Orphanet 74 C1844671
ICD10 via Orphanet 34 Q13.4
MedGen 42 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. An important gene associated with Dermoids of Cornea is CND (Corneal Dermoids). Affiliated tissues include eye, and related phenotypes are visual impairment and visual loss

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:

57
Eyes:
corneal dermoid
congenital opaque corneas


Clinical features from OMIM:

304730

Human phenotypes related to Dermoids of Cornea:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
3 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
4 abnormality of the pupil 59 Frequent (79-30%)
5 abnormality of the eye 32 HP:0000478
6 abnormal pupil morphology 32 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:

41
Eye

Publications for Dermoids of Cornea

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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