MCID: DST033
MIFTS: 35

Distichiasis

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Distichiasis

MalaCards integrated aliases for Distichiasis:

Name: Distichiasis 56 54
Eyelashes, Two Rows of 56
Isolated Distichiasis 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
distichiasis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 126300
ICD10 via Orphanet 33 Q10.3
UMLS via Orphanet 72 C0423848
Orphanet 58 ORPHA99177
MedGen 41 C0423848
SNOMED-CT via HPO 68 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 heart, eye and lymph node, and related phenotypes are distichiasis and digestive/alimentary

Wikipedia : 74 A distichia is an eyelash that arises from an abnormal spot on the eyelid. This abnormality, attributed... more...

More information from OMIM: 126300

Related Diseases for Distichiasis

Diseases related to Distichiasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 lymphedema-distichiasis syndrome 33.6 FOXP2 FOXL1 FOXC2
2 blepharocheilodontic syndrome 1 32.7 CTNND1 CDH1
3 ectropion 30.3 CTNND1 CDH1
4 hereditary lymphedema 29.5 FOXL1 FOXC2 FOXC1
5 distichiasis with congenital anomalies of the heart and peripheral vasculature 12.3
6 distichiasis heart congenital anomalies 12.2
7 obsolete: eyebrow/eyelashes distichiasis 12.2
8 focal facial dermal dysplasia 3, setleis type 11.5
9 focal facial dermal dysplasia 1, brauer type 11.4
10 focal facial dermal dysplasia 2, brauer-setleis type 11.2
11 blepharocheilodontic syndrome 2 11.2
12 focal facial dermal dysplasia 11.2
13 lymphedema 10.8
14 entropion 10.5
15 cleft palate, isolated 10.5
16 ptosis 10.5
17 varicose veins 10.3
18 congenital lymphedema 10.3
19 isolated pierre robin sequence 10.3
20 primary lymphedema 10.3
21 pierre robin syndrome 10.2
22 conjunctivitis 10.2
23 congenital ectropion 10.2
24 epicanthus 10.1
25 strabismus 10.1
26 tetralogy of fallot 10.1
27 patent ductus arteriosus 1 10.1
28 hydrops, lactic acidosis, and sideroblastic anemia 10.1
29 scoliosis 10.1
30 lagophthalmos 10.1
31 cicatricial entropion 10.1
32 heart septal defect 10.1
33 blepharospasm 10.1
34 cataract 10.1
35 bullous pemphigoid 10.1
36 mechanical strabismus 10.1
37 euryblepharon 10.0 CTNND1 CDH1
38 ankyloglossia with or without tooth anomalies 10.0
39 van der woude syndrome 1 10.0
40 coarctation of aorta 10.0
41 glomuvenous malformations 10.0
42 keratitis, hereditary 10.0
43 lymphatic malformation 1 10.0
44 noonan syndrome 1 10.0
45 pectus excavatum 10.0
46 telecanthus 10.0
47 renal hypodysplasia/aplasia 1 10.0
48 vesicoureteral reflux 1 10.0
49 hydrops fetalis, nonimmune 10.0
50 pulmonic stenosis 10.0

Graphical network of the top 20 diseases related to Distichiasis:



Diseases related to Distichiasis

Symptoms & Phenotypes for Distichiasis

Human phenotypes related to Distichiasis:

31
# Description HPO Frequency HPO Source Accession
1 distichiasis 31 HP:0009743

Symptoms via clinical synopsis from OMIM:

56
Hair:
double rows of eyelashes

Clinical features from OMIM:

126300

MGI Mouse Phenotypes related to Distichiasis:

45
# 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:

40
Heart, Eye, Lymph Node, Lung, Breast, Endothelial

Publications for Distichiasis

Articles related to Distichiasis:

(show top 50) (show all 228)
# Title Authors PMID Year
1
Atypical serum cholinesterase in a family with congenital distichiasis. 61 56
1018310 1976
2
Distichiasis. 61 56
13894397 1962
3
Congenital ectropion and distichiasis; etiologic and hereditary factors: a report of cases and review of the literature. 61 56
13627093 1959
4
Congenital ectropion and distichiasis; etiologic and hereditary factors: a report of cases and review of the literature. 61 56
13556836 1957
5
Pseudodistichiasis as a manifestation of anhidrotic ectodermal dysplasia. 56
8350233 1993
6
Ophthalmic manifestations of Setleis forceps marks syndrome: a case report. 56
1588476 1992
7
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. 54 61
20450314 2010
8
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. 54 61
20186799 2010
9
Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. 54 61
20218083 2009
10
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 54 61
18197197 2008
11
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 54 61
17372167 2007
12
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. 54 61
16081467 2005
13
Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs. 54 61
15744037 2005
14
Mutation of the FOXC2 gene in familial distichiasis. 54 61
14566319 2003
15
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 54 61
12485195 2002
16
Lymphedema-distichiasis syndrome and FOXC2 gene mutation. 54 61
12383817 2002
17
Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome. 61
31721633 2019
18
Distichiasis in association with entropion in metastatic HER2-positive breast cancer treated by pertuzumab, trastuzumab, and docetaxel combination chemotherapy. 61
31749208 2019
19
Clinical clues predictive of Stevens-Johnson syndrome as the cause of chronic cicatrising conjunctivitis. 61
31630093 2019
20
A new perspective in oculoplastic surgical management of symptomatic distichiasis in lymphedema-distichiasis syndrome. 61
30516410 2019
21
Crystal Structure of FOXC2 in Complex with DNA Target. 61
31460188 2019
22
Evaluation of transconjunctival thermal electrocautery for treatment of canine distichiasis: 88 eyelids (2013-2016). 61
29493866 2019
23
Modified treatment of distichiasis with direct tarsal strip excision without mucosal graft. 61
29313390 2018
24
Prenatal thoraco-amniotic chest drain insertion to manage a case of fetal hydrops secondary to FOXC2. 61
29866673 2018
25
A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst. 61
29459084 2018
26
Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome. 61
29406328 2018
27
A new surgical technique for congenital distichiasis. 61
29058522 2018
28
Lymphedema-Distichiasis Syndrome in a Male Patient Followed for 16 Years. 61
29342028 2018
29
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. 61
29348693 2018
30
Anterior tarsal flap rotation combined with anterior lamellar reposition in the repair of cicatricial upper eyelid entropion. 61
29538594 2018
31
A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis. 61
28959174 2017
32
Foxc2 influences alveolar epithelial cell differentiation during lung development. 61
28675425 2017
33
Renal anomalies and lymphedema distichiasis syndrome. A rare association? 61
28544699 2017
34
Congenital distichiasis: Histopathological report of 3 cases. 61
28860915 2017
35
The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period. 61
27073021 2017
36
Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity. 61
29908552 2016
37
Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome. 61
27752211 2016
38
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function. 61
27276711 2016
39
Ocular Findings in Children With 22q11.2 Deletion Syndrome. 61
27182748 2016
40
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. 61
27346194 2016
41
One-Stage Alternatives to the Hughes Procedure for Reconstruction of Large Lower Eyelid Defects: Surgical Techniques and Outcomes. 61
26784548 2016
42
Lymphedema-distichiasis syndrome. 61
26124227 2016
43
Lymphoedema-distichiasis syndrome. 61
26759405 2016
44
Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation. 61
27570485 2016
45
Isolated ectopic cilia in an 11-year-old girl. 61
27822435 2016
46
FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature. 61
26389677 2015
47
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases. 61
26474030 2015
48
A retrospective survey of ocular abnormalities in pugs: 130 cases. 61
25370448 2015
49
A novel FOXC2 mutation in spinal extradural arachnoid cyst. 61
27081541 2015
50
Prevalence and heritability of distichiasis in the English Cocker spaniel. 61
26401339 2015

Variations for Distichiasis

Expression for Distichiasis

Search GEO for disease gene expression data for Distichiasis.

Pathways for Distichiasis

GO Terms for Distichiasis

Cellular components related to Distichiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.26 FOXP2 FOXL1 FOXC2 FOXC1
2 catenin complex GO:0016342 8.62 CTNND1 CDH1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.73 FOXL1 FOXC2 FOXC1
2 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.62 FOXC2 FOXC1
3 cerebellum development GO:0021549 9.62 FOXP2 FOXC1
4 heart morphogenesis GO:0003007 9.61 FOXC2 FOXC1
5 blood vessel development GO:0001568 9.61 FOXC2 FOXC1
6 somitogenesis GO:0001756 9.6 FOXC2 FOXC1
7 collagen fibril organization GO:0030199 9.59 FOXC2 FOXC1
8 cell-cell junction assembly GO:0007043 9.58 CTNND1 CDH1
9 adherens junction organization GO:0034332 9.58 CTNND1 CDH1
10 ureteric bud development GO:0001657 9.57 FOXC2 FOXC1
11 blood vessel remodeling GO:0001974 9.55 FOXC2 FOXC1
12 cell-cell adhesion mediated by cadherin GO:0044331 9.54 CTNND1 CDH1
13 anatomical structure morphogenesis GO:0009653 9.54 FOXL1 FOXC2 FOXC1
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.52 FOXC2 FOXC1
15 artery morphogenesis GO:0048844 9.51 FOXC2 FOXC1
16 neural crest cell development GO:0014032 9.49 FOXC2 FOXC1
17 regulation of blood vessel diameter GO:0097746 9.48 FOXC2 FOXC1
18 embryonic heart tube development GO:0035050 9.46 FOXC2 FOXC1
19 cardiac muscle cell proliferation GO:0060038 9.43 FOXC2 FOXC1
20 lymph vessel development GO:0001945 9.4 FOXC2 FOXC1
21 regulation of organ growth GO:0046620 9.32 FOXC2 FOXC1
22 entry of bacterium into host cell GO:0035635 9.26 CTNND1 CDH1
23 paraxial mesoderm formation GO:0048341 9.16 FOXC2 FOXC1
24 camera-type eye development GO:0043010 9.13 FOXP2 FOXC2 FOXC1
25 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 8.62 FOXC2 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.71 FOXP2 FOXC2 CHMP1A CDH1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.62 FOXP2 FOXL1 FOXC2 FOXC1
3 DNA-binding transcription factor activity GO:0003700 9.56 FOXP2 FOXL1 FOXC2 FOXC1
4 cell adhesion molecule binding GO:0050839 9.37 CTNND1 CDH1
5 sequence-specific DNA binding GO:0043565 9.26 FOXP2 FOXL1 FOXC2 FOXC1
6 promoter-specific chromatin binding GO:1990841 9.16 FOXC2 FOXC1
7 DNA binding, bending GO:0008301 8.62 FOXL1 FOXC1

Sources for Distichiasis

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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