Aliases & Classifications for Distichiasis

MalaCards integrated aliases for Distichiasis:

Name: Distichiasis 57 55
Eyelashes, Two Rows of 57
Isolated Distichiasis 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
distichiasis:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 126300
Orphanet 59 ORPHA99177
ICD10 via Orphanet 34 Q10.3
UMLS via Orphanet 74 C0423848
MedGen 42 C0423848
SNOMED-CT via HPO 69 263681008 95339000

Summaries for Distichiasis

MalaCards based summary : Distichiasis, also known as eyelashes, two rows of, is related to lymphedema-distichiasis syndrome and blepharocheilodontic syndrome 1. An important gene associated with Distichiasis is FOXC2 (Forkhead Box C2), and among its related pathways/superpathways are Adherens junction and FGF signaling pathway. Affiliated tissues include eye, and related phenotypes are distichiasis and digestive/alimentary

Description from OMIM: 126300

Related Diseases for Distichiasis

Graphical network of the top 20 diseases related to Distichiasis:



Diseases related to Distichiasis

Symptoms & Phenotypes for Distichiasis

Symptoms via clinical synopsis from OMIM:

57
Hair:
double rows of eyelashes


Clinical features from OMIM:

126300

Human phenotypes related to Distichiasis:

32
# Description HPO Frequency HPO Source Accession
1 distichiasis 32 HP:0009743

MGI Mouse Phenotypes related to Distichiasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 CDH1 CTNND1 FOXC1 FOXC2 FOXL1

Drugs & Therapeutics for Distichiasis

Search Clinical Trials , NIH Clinical Center for Distichiasis

Genetic Tests for Distichiasis

Anatomical Context for Distichiasis

MalaCards organs/tissues related to Distichiasis:

41
Eye

Publications for Distichiasis

Articles related to Distichiasis:

(show top 50) (show all 69)
# Title Authors Year
1
Modified treatment of distichiasis with direct tarsal strip excision without mucosal graft. ( 29313390 )
2018
2
Lymphedema-Distichiasis Syndrome in a Male Patient Followed for 16 Years. ( 29342028 )
2018
3
Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome. ( 29406328 )
2018
4
Evaluation of transconjunctival thermal electrocautery for treatment of canine distichiasis: 88 eyelids (2013-2016). ( 29493866 )
2018
5
Congenital distichiasis: Histopathological report of 3 cases. ( 28860915 )
2017
6
A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis. ( 28959174 )
2017
7
Renal anomalies and lymphedema distichiasis syndrome. A rare association? ( 28544699 )
2017
8
A new surgical technique for congenital distichiasis. ( 29058522 )
2017
9
Lymphoedema-distichiasis syndrome. ( 26759405 )
2016
10
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene. ( 27346194 )
2016
11
Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation. ( 27570485 )
2016
12
Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome. ( 27752211 )
2016
13
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function. ( 27276711 )
2016
14
Prevalence and heritability of distichiasis in the English Cocker spaniel. ( 26401339 )
2015
15
Lymphedema-distichiasis syndrome. ( 26124227 )
2015
16
A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene. ( 24984567 )
2014
17
Treatment and long-term follow-up of distichiasis, with special reference to the Friesian horse: a case series. ( 23927412 )
2014
18
Distichiasis in a ferret (Mustela putorius furo). ( 24118780 )
2014
19
A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with Lymphedema-Distichiasis Syndrome. ( 23747797 )
2013
20
[Treatment of trichiasis and distichiasis with a biopsy punch -- an effective and practical method for eyelash follicle excision]. ( 23172650 )
2013
21
Lymphedema in a patient with distichiasis. ( 24215208 )
2013
22
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. ( 22407726 )
2012
23
Histopathologic features of canine distichiasis. ( 22051077 )
2012
24
Congenital distichiasis treated by a time-based cryosurgical technique--a case report. ( 23738414 )
2012
25
Lymphoedema - distichiasis syndrome with recurrent abortions. ( 23806988 )
2012
26
Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome. ( 22349027 )
2012
27
Successful treatment of distichiasis in a cat using transconjunctival electrocautery. ( 21923836 )
2011
28
Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency. ( 21464574 )
2011
29
Distichiasis-lymphedema syndrome with optic disc pit. ( 21157084 )
2011
30
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. ( 20186799 )
2010
31
Re: "conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs". ( 20489560 )
2010
32
A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome. ( 20552815 )
2010
33
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. ( 20450314 )
2010
34
Rare association of immunoglobulin A nephropathy and lymphedema-distichiasis syndrome. ( 20124880 )
2010
35
Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome. ( 20535019 )
2010
36
Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. ( 20218083 )
2009
37
Conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs. ( 19300167 )
2009
38
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. ( 18986489 )
2008
39
Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. ( 19013876 )
2008
40
Spinal extradural arachnoid cysts associated with distichiasis and lymphedema. ( 17366583 )
2007
41
Perinatal diagnosis of a lymphedema-distichiasis syndrome (LD). ( 17721865 )
2007
42
Distichiasis in van der Woude syndrome. ( 17050288 )
2006
43
The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis. ( 16081467 )
2005
44
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations. ( 15906099 )
2005
45
Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome. ( 15465483 )
2004
46
A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. ( 15523639 )
2004
47
Mutation of the FOXC2 gene in familial distichiasis. ( 14566319 )
2003
48
FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. ( 12719382 )
2003
49
Literature watch. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. ( 15624441 )
2003
50
Distichiasis, trichiasis, and entropion: advances in management. ( 11914705 )
2002

Variations for Distichiasis

Expression for Distichiasis

Search GEO for disease gene expression data for Distichiasis.

Pathways for Distichiasis

GO Terms for Distichiasis

Biological processes related to Distichiasis according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.95 CHMP1A CTNND1 FOXC1 FOXC2 FOXL1 FOXP2
2 multicellular organism development GO:0007275 9.93 CDH1 FOXC1 FOXC2 FOXL1
3 cell differentiation GO:0030154 9.92 FOXC1 FOXC2 FOXL1 FOXP2
4 heart development GO:0007507 9.74 FOXC1 FOXC2 FOXL1
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.63 FOXC1 FOXC2
6 blood vessel development GO:0001568 9.62 FOXC1 FOXC2
7 cerebellum development GO:0021549 9.61 FOXC1 FOXP2
8 heart morphogenesis GO:0003007 9.61 FOXC1 FOXC2
9 somitogenesis GO:0001756 9.6 FOXC1 FOXC2
10 ureteric bud development GO:0001657 9.59 FOXC1 FOXC2
11 collagen fibril organization GO:0030199 9.58 FOXC1 FOXC2
12 adherens junction organization GO:0034332 9.58 CDH1 CTNND1
13 blood vessel remodeling GO:0001974 9.56 FOXC1 FOXC2
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.54 FOXC1 FOXC2
15 artery morphogenesis GO:0048844 9.52 FOXC1 FOXC2
16 neural crest cell development GO:0014032 9.51 FOXC1 FOXC2
17 embryonic heart tube development GO:0035050 9.49 FOXC1 FOXC2
18 regulation of blood vessel size GO:0050880 9.46 FOXC1 FOXC2
19 cardiac muscle cell proliferation GO:0060038 9.43 FOXC1 FOXC2
20 lymph vessel development GO:0001945 9.4 FOXC1 FOXC2
21 entry of bacterium into host cell GO:0035635 9.37 CDH1 CTNND1
22 camera-type eye development GO:0043010 9.33 FOXC1 FOXC2 FOXP2
23 regulation of organ growth GO:0046620 9.32 FOXC1 FOXC2
24 paraxial mesoderm formation GO:0048341 9.26 FOXC1 FOXC2
25 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 8.96 FOXC1 FOXC2
26 anatomical structure morphogenesis GO:0009653 8.92 FOXC1 FOXC2 FOXL1 FOXP2
27 regulation of transcription, DNA-templated GO:0006355 10.02 CHMP1A CTNND1 FOXC1 FOXC2 FOXL1 FOXP2

Molecular functions related to Distichiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.71 FOXC1 FOXC2 FOXL1 FOXP2
2 identical protein binding GO:0042802 9.56 CDH1 CHMP1A FOXC2 FOXP2
3 cell adhesion molecule binding GO:0050839 9.37 CDH1 CTNND1
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.32 FOXC1 FOXC2
5 sequence-specific DNA binding GO:0043565 9.26 FOXC1 FOXC2 FOXL1 FOXP2
6 promoter-specific chromatin binding GO:1990841 9.16 FOXC1 FOXC2
7 DNA binding, bending GO:0008301 8.62 FOXC1 FOXL1

Sources for Distichiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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