CND
MCID: DRM015
MIFTS: 16

Dermoids of Cornea (CND) malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Dermoids of Cornea

Aliases & Descriptions for Dermoids of Cornea:

Name: Dermoids of Cornea 54 50
Corneal Dystrophy Epithelial-Short Stature Syndrome 56
Guízar Vázquez-Luengas-Muñoz Syndrome 56
X-Linked Corneal Dermoid 56
Cnd 50

Characteristics:

Orphanet epidemiological data:

56
x-linked corneal dermoid
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
dermoids of cornea:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 304730
Orphanet 56 ORPHA1661
ICD10 via Orphanet 34 Q13.4

Summaries for Dermoids of Cornea

MalaCards based summary : Dermoids of Cornea, also known as corneal dystrophy epithelial-short stature syndrome, is related to ring dermoid of cornea and thyroid cancer, and has symptoms including corneal opacity, visual impairment and visual loss. 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:

id Related Disease Score Top Affiliating Genes
1 ring dermoid of cornea 12.4
2 thyroid cancer 10.0
3 thyroiditis 10.0

Symptoms & Phenotypes for Dermoids of Cornea

Symptoms by clinical synopsis from OMIM:

304730

Clinical features from OMIM:

304730

Human phenotypes related to Dermoids of Cornea:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
2 visual impairment 56 32 Very frequent (99-80%) HP:0000505
3 visual loss 56 32 Occasional (29-5%) HP:0000572
4 abnormality of the pupil 56 32 Frequent (79-30%) HP:0000615
5 abnormality of the eye 32 HP:0000478

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:

39
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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