MCID: ECT009
MIFTS: 13

Ectopia Pupillae

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ectopia Pupillae

MalaCards integrated aliases for Ectopia Pupillae:

Name: Ectopia Pupillae 56 52
Congenital Eye Malformation in Which the Pupils Are Displaced from Their Normal Central Position 52
Familial Ectopic Pupil 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? separate from ectopia lentis et pupillae (225200) or ptosis, strabismus and ectopic pupils (178330)


HPO:

31
ectopia pupillae:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 129750
MedGen 41 C0271135
SNOMED-CT via HPO 68 193523008 263681008 392461003

Summaries for Ectopia Pupillae

OMIM : 56 Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position. (129750)

MalaCards based summary : Ectopia Pupillae, is also known as congenital eye malformation in which the pupils are displaced from their normal central position. Affiliated tissues include eye, and related phenotype is ectopia pupillae.

Related Diseases for Ectopia Pupillae

Symptoms & Phenotypes for Ectopia Pupillae

Human phenotypes related to Ectopia Pupillae:

31
# Description HPO Frequency HPO Source Accession
1 ectopia pupillae 31 HP:0009918

Symptoms via clinical synopsis from OMIM:

56
Eyes:
isolated etopic pupil

Clinical features from OMIM:

129750

Drugs & Therapeutics for Ectopia Pupillae

Search Clinical Trials , NIH Clinical Center for Ectopia Pupillae

Genetic Tests for Ectopia Pupillae

Anatomical Context for Ectopia Pupillae

MalaCards organs/tissues related to Ectopia Pupillae:

40
Eye

Publications for Ectopia Pupillae

Articles related to Ectopia Pupillae:

# Title Authors PMID Year
1
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 61 56
9931324 1999
2
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. 61
29230941 2018
3
PAX6 mutations may be associated with high myopia. 61
17896318 2007
4
Ectopia lentis et pupillae: report of a unilateral case and surgical management. 61
16315041 2006
5
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. 61
9009364 1996
6
Ectopia lentis et pupillae syndrome in three generations. 61
7696232 1995
7
Nd-YAG laser in our experience. 61
3872429 1985

Variations for Ectopia Pupillae

ClinVar genetic disease variations for Ectopia Pupillae:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(18;20)(q21.1;p11.23)dnTranslocation Uncertain significance 268042

Expression for Ectopia Pupillae

Search GEO for disease gene expression data for Ectopia Pupillae.

Pathways for Ectopia Pupillae

GO Terms for Ectopia Pupillae

Sources for Ectopia Pupillae

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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