MCID: ISL065
MIFTS: 10

Isolated Congenital Alacrima

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Isolated Congenital Alacrima

MalaCards integrated aliases for Isolated Congenital Alacrima:

Name: Isolated Congenital Alacrima 58

Characteristics:

Orphanet epidemiological data:

58
isolated congenital alacrima
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 Q10.6
UMLS via Orphanet 72 C1863199
Orphanet 58 ORPHA91416

Summaries for Isolated Congenital Alacrima

MalaCards based summary : Isolated Congenital Alacrima Affiliated tissues include eye, and related phenotypes are alacrima and ptosis

Related Diseases for Isolated Congenital Alacrima

Symptoms & Phenotypes for Isolated Congenital Alacrima

Human phenotypes related to Isolated Congenital Alacrima:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alacrima 58 31 hallmark (90%) Very frequent (99-80%) HP:0000522
2 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
3 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
4 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
5 keratitis 58 31 frequent (33%) Frequent (79-30%) HP:0000491
6 conjunctivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000509
7 distichiasis 58 31 frequent (33%) Frequent (79-30%) HP:0009743
8 lacrimal gland hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007732
9 lacrimal punctal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007820
10 achalasia 58 Excluded (0%)

Drugs & Therapeutics for Isolated Congenital Alacrima

Search Clinical Trials , NIH Clinical Center for Isolated Congenital Alacrima

Genetic Tests for Isolated Congenital Alacrima

Anatomical Context for Isolated Congenital Alacrima

MalaCards organs/tissues related to Isolated Congenital Alacrima:

40
Eye

Publications for Isolated Congenital Alacrima

Variations for Isolated Congenital Alacrima

Expression for Isolated Congenital Alacrima

Search GEO for disease gene expression data for Isolated Congenital Alacrima.

Pathways for Isolated Congenital Alacrima

GO Terms for Isolated Congenital Alacrima

Sources for Isolated Congenital Alacrima

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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