MCID: BLP021

Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation malady

Genetic diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section
Sources:
48Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation:

Name: Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 48
 
Blepharophimosis Types 1 and 2 Due to a Point Mutation 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
blepharophimosis - epicanthus inversus - ptosis due to a point mutation:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal


External Ids:

Orphanet48 261572
ICD10 via Orphanet26 Q10.3

Summaries for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section
MalaCards based summary: Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation, is also known as blepharophimosis types 1 and 2 due to a point mutation An important gene associated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation is FOXL2 (forkhead box L2). Affiliated tissues include eye.

Related Diseases for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Diseases in the Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 family:

Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion blepharophimosis - epicanthus inversus - ptosis due to a point mutation

Symptoms for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Drugs & Therapeutics for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Drug clinical trials:

Search ClinicalTrials for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

Search NIH Clinical Center for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

Genetic Tests for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Anatomical Context for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

MalaCards organs/tissues related to Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation:

31
Eye

Animal Models for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point... or affiliated genes

About this section

Publications for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Variations for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Expression for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section
Search GEO for disease gene expression data for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation.

Pathways for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Compounds for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

GO Terms for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section

Sources for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet