MCID: BLP042
MIFTS: 18

Blepharoptosis, Myopia, and Ectopia Lentis

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Blepharoptosis, Myopia, and Ectopia Lentis

MalaCards integrated aliases for Blepharoptosis, Myopia, and Ectopia Lentis:

Name: Blepharoptosis, Myopia, and Ectopia Lentis 56
Blepharoptosis Myopia Ectopia Lentis 52 71
Dominantly Inherited Blepharoptosis, High Myopia, and Ectopia Lentis 52
Blepharoptosis-Myopia-Ectopia Lentis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
blepharoptosis-myopia-ectopia lentis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
blepharoptosis, myopia, and ectopia lentis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 110150
MESH via Orphanet 44 C536236
ICD10 via Orphanet 33 Q15.8
UMLS via Orphanet 72 C1862259
Orphanet 58 ORPHA1259
MedGen 41 C1862259
UMLS 71 C1862259

Summaries for Blepharoptosis, Myopia, and Ectopia Lentis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1259 Definition This syndrome is characterised by bilateral congenital blepharoptosis , ectopia lentis and high myopia. Epidemiology It has been described in three members of one family (in a mother and her two daughters). Genetic counseling Transmission appears to be autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Blepharoptosis, Myopia, and Ectopia Lentis, also known as blepharoptosis myopia ectopia lentis, is related to joint laxity, short stature, and myopia and ptosis. Affiliated tissues include eye, and related phenotypes are ptosis and myopia

More information from OMIM: 110150

Related Diseases for Blepharoptosis, Myopia, and Ectopia Lentis

Diseases related to Blepharoptosis, Myopia, and Ectopia Lentis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 joint laxity, short stature, and myopia 10.5
2 ptosis 10.5
3 isolated ectopia lentis 10.5
4 myopia 10.5

Symptoms & Phenotypes for Blepharoptosis, Myopia, and Ectopia Lentis

Human phenotypes related to Blepharoptosis, Myopia, and Ectopia Lentis:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
3 ectopia lentis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001083
4 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
5 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
6 fingernail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100798
7 abnormality of the helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0011039
8 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
9 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
10 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
11 increased axial length of the globe 31 HP:0007800
12 congenital ptosis 31 HP:0007970

Symptoms via clinical synopsis from OMIM:

56
Eyes:
myopia
ectopia lentis
congenital blepharoptosis
abnormally long globes
abnormally high upper eyelid creases
more

Clinical features from OMIM:

110150

Drugs & Therapeutics for Blepharoptosis, Myopia, and Ectopia Lentis

Search Clinical Trials , NIH Clinical Center for Blepharoptosis, Myopia, and Ectopia Lentis

Genetic Tests for Blepharoptosis, Myopia, and Ectopia Lentis

Anatomical Context for Blepharoptosis, Myopia, and Ectopia Lentis

MalaCards organs/tissues related to Blepharoptosis, Myopia, and Ectopia Lentis:

40
Eye

Publications for Blepharoptosis, Myopia, and Ectopia Lentis

Articles related to Blepharoptosis, Myopia, and Ectopia Lentis:

# Title Authors PMID Year
1
Dominantly inherited blepharoptosis, high myopia, and ectopia lentis. 61 56
6978128 1982

Variations for Blepharoptosis, Myopia, and Ectopia Lentis

Expression for Blepharoptosis, Myopia, and Ectopia Lentis

Search GEO for disease gene expression data for Blepharoptosis, Myopia, and Ectopia Lentis.

Pathways for Blepharoptosis, Myopia, and Ectopia Lentis

GO Terms for Blepharoptosis, Myopia, and Ectopia Lentis

Sources for Blepharoptosis, Myopia, and Ectopia Lentis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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