LPHDST
MCID: LYM029
MIFTS: 54

Lymphedema-Distichiasis Syndrome (LPHDST)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lymphedema-Distichiasis Syndrome

MalaCards integrated aliases for Lymphedema-Distichiasis Syndrome:

Name: Lymphedema-Distichiasis Syndrome 57 11 24 19 42 58 75 73 53 14 38
Lymphedema with Distichiasis 57 11 19 42 73
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 57 28 12 5
Distichiasis-Lymphedema Syndrome 42 28 5
Lphdst 57 11 73
Lymphedema Distichiasis Syndrome 43 71
Hereditary Lymphedema-Distichiasis Syndrome 19
Lymphedema Distichiasis 75

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of lymphedema around puberty
onset occurs earlier in males than females


GeneReviews:

24
Penetrance Approximately 80% of individuals with lymphedema-distichiasis syndrome have lymphedema by early adulthood (age 30 years), although a few individuals may develop lymphedema later....

Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Lymphedema-Distichiasis Syndrome

MedlinePlus Genetics: 42 Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes (distichiasis), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted (varicose) veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate).All people with lymphedema-distichiasis syndrome have extra eyelashes present at birth. The age of onset of lymphedema varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties.

MalaCards based summary: Lymphedema-Distichiasis Syndrome, also known as lymphedema with distichiasis, is related to distichiasis and lymphatic malformation 1, and has symptoms including photophobia An important gene associated with Lymphedema-Distichiasis Syndrome is FOXC2 (Forkhead Box C2), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Angiogenesis (CST). Affiliated tissues include eye, skin and heart, and related phenotypes are photophobia and conjunctivitis

GARD: 19 Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this syndrome have extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs, most often the legs and feet. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems that may occur in Lymphedema-distichiasis syndrome include varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (cleft palate). Lymphedema-distichiasis syndrome is caused by changes (referred to as genetic changes or pathogenic variants) in the FOXC2 gene. It is inherited in an autosomal dominant pattern. Diagnosis of this syndrome is based on a thorough clinical examination, detailed patient history, and identification of the symptoms mentioned above. Clinical genetic testing can be used to confirm the diagnosis.

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients.

OMIM®: 57 Lymphedema-distichiasis is an autosomal dominant disorder that classically presents as lymphedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the cornea, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia (Fang et al., 2000; Brice et al., 2002). (153400) (Updated 08-Dec-2022)

Orphanet: 58 A rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

Disease Ontology: 11 A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has material basis in heterozygous mutation in FOXC2 on chromosome 16q24.1.

Wikipedia: 75 Lymphedema-distichiasis syndrome is a medical condition associated with the FOXC2 gene.: 849 People with... more...

GeneReviews: NBK1457

Related Diseases for Lymphedema-Distichiasis Syndrome

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 distichiasis 31.6 FOXP2 FOXC2 FOXC1
2 lymphatic malformation 1 30.7 GJC2 FLT4 EPHB4
3 congenital lymphedema 30.4 VEGFC FOXC2 FLT4
4 hereditary lymphedema ii 30.1 SOX18 GJC2 FOXC2 CCBE1
5 hereditary lymphedema i 29.9 VEGFC SOX18 PROX1 LYVE1 ITGA9 GJC2
6 lymphatic malformation 5 29.8 SOX18 FOXC2 FLT4 EPHB4 CCBE1
7 primary lymphedema 29.8 VEGFC SOX18 GJC2 FOXC2 FOXC1 FLT4
8 tetralogy of fallot 29.3 NFATC1 FOXF1 FOXC2 FLT4 EPHB4
9 hereditary lymphedema 29.3 VEGFC SOX18 PROX1 LYVE1 ITGA9 GJC2
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
11 cleft palate, isolated 10.4
12 varicose veins 10.4
13 ptosis 10.4
14 hypotrichosis 10.2 SOX18 FOXC2 FLT4
15 hydrops fetalis, nonimmune 10.2
16 multiple pterygium syndrome, escobar variant 10.2
17 alveolar capillary dysplasia with misalignment of pulmonary veins 10.2
18 scoliosis 10.2
19 hydronephrosis 10.2
20 yellow nail syndrome 10.2 SOX18 ITGA9 FOXC2
21 cholestasis-lymphedema syndrome 10.2 SOX18 CCBE1
22 hallermann-streiff syndrome 10.2 GJC2 GJA4
23 malignant ciliary body melanoma 10.1 PROX1 LYVE1
24 cystic lymphangioma 10.1 PROX1 FOXC2 FLT4
25 ciliary body cancer 10.1 PROX1 LYVE1
26 leopard syndrome 2 10.1 SOX18 GJC2 CCBE1
27 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 10.1 SOX18 CCBE1
28 acquired hemangioma 10.1 PROX1 LYVE1
29 noonan syndrome 5 10.1 SOX18 GJC2 CCBE1
30 familiar ovarian carcinoma 10.1 VEGFC FLT4
31 coarctation of aorta 10.1
32 noonan syndrome 1 10.1
33 pectus excavatum 10.1
34 strabismus 10.1
35 renal hypodysplasia/aplasia 1 10.1
36 arachnoid cysts, intracranial 10.1
37 pierre robin syndrome 10.1
38 pulmonic stenosis 10.1
39 spastic ataxia, charlevoix-saguenay type 10.1
40 patent ductus arteriosus 1 10.1
41 cerebellar atrophy, developmental delay, and seizures 10.1
42 venous insufficiency 10.1
43 lagophthalmos 10.1
44 glomerulonephritis 10.1
45 cellulitis 10.1
46 turner syndrome 10.1
47 conjunctivitis 10.1
48 cleft lip 10.1
49 diabetes mellitus 10.1
50 cleft lip/palate 10.1

Graphical network of the top 20 diseases related to Lymphedema-Distichiasis Syndrome:



Diseases related to Lymphedema-Distichiasis Syndrome

Symptoms & Phenotypes for Lymphedema-Distichiasis Syndrome

Human phenotypes related to Lymphedema-Distichiasis Syndrome:

58 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000613
2 conjunctivitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000509
3 distichiasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009743
4 corneal erosion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200020
5 predominantly lower limb lymphedema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003550
6 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
7 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
8 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
9 varicose veins 58 30 Frequent (33%) Frequent (79-30%)
HP:0002619
10 ectropion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000656
11 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
12 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
13 cleft palate 58 30 Very rare (1%) Occasional (29-5%)
HP:0000175
14 webbed neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000465
15 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
16 glomerulopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100820
17 cleft upper lip 58 30 Very rare (1%) Occasional (29-5%)
HP:0000204
18 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
19 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
20 renal duplication 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000075
21 tubulointerstitial nephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001970
22 abnormality of the pulmonary vasculature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004930
23 recurrent skin infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001581
24 fibrosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100244
25 spinal arachnoid cyst 30 Occasional (7.5%) HP:0009745
26 yellow nails 30 Very rare (1%) HP:0011367
27 malformation of the heart and great vessels 58 Occasional (29-5%)
28 lymphedema 30 HP:0001004
29 tetralogy of fallot 30 HP:0001636
30 cellulitis 30 HP:0100658
31 ventricular septal defect 30 HP:0001629
32 corneal ulceration 30 HP:0012804
33 abnormality of the musculature 30 HP:0003011
34 spinalarachnoid cyst 58 Occasional (29-5%)
35 recurrent corneal erosions 30 HP:0000495

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
photophobia
conjunctivitis
corneal ulceration
accessory eyelashes
more
Cardiovascular Vascular:
patent ductus arteriosus
varicose veins

Skin Nails Hair Nails:
yellow nails (in some patients)

Skeletal Spine:
spinal extradural cysts may occur

Cardiovascular Heart:
tetralogy of fallot
congenital heart defects (7%)
ventricular septal defects
arrhythmias

Muscle Soft Tissue:
lymphedema, predominantly in the lower limbs
cellulitis or infection may occur
lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

Head And Neck Mouth:
cleft lip (4%)
cleft palate (4%)

Clinical features from OMIM®:

153400 (Updated 08-Dec-2022)

UMLS symptoms related to Lymphedema-Distichiasis Syndrome:


photophobia

GenomeRNAi Phenotypes related to Lymphedema-Distichiasis Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00207-A-1 9.26 EFNB2
2 Decreased viability with paclitaxel GR00207-A-2 9.26 FOXC1
3 Decreased viability with paclitaxel GR00207-A-3 9.26 EFNB2 FOXC1
4 Decreased viability in pancreas lineage GR00235-A 8.32 FOXC1

MGI Mouse Phenotypes related to Lymphedema-Distichiasis Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 EFNB2 EPHB4 FLT4 FOXC1 FOXC2 FOXF1
2 muscle MP:0005369 10.16 EFNB2 EPHB4 FLT4 FOXC1 FOXC2 FOXF1
3 normal MP:0002873 10.13 CCBE1 EFNB2 FLT4 FOXC1 FOXC2 GJC2
4 cardiovascular system MP:0005385 10.1 EFNB2 EPHB4 FLT4 FOXC1 FOXC2 FOXF1
5 digestive/alimentary MP:0005381 10.06 EFNB2 FLT4 FOXC1 FOXC2 FOXF1 FOXL1
6 immune system MP:0005387 10.03 CCBE1 EFNB2 EPHB4 FLT4 FOXC2 FOXF1
7 liver/biliary system MP:0005370 9.98 CCBE1 FLT4 FOXC1 FOXC2 FOXF1 NFATC1
8 embryo MP:0005380 9.97 EFNB2 EPHB4 FLT4 FOXC1 FOXC2 FOXF1
9 respiratory system MP:0005388 9.61 EFNB2 FOXC1 FOXC2 FOXF1 FOXP2 GJA4
10 mortality/aging MP:0010768 9.55 CCBE1 EFNB2 EPHB4 FLT4 FOXC1 FOXC2

Drugs & Therapeutics for Lymphedema-Distichiasis Syndrome

Search Clinical Trials, NIH Clinical Center for Lymphedema-Distichiasis Syndrome

Cochrane evidence based reviews: lymphedema distichiasis syndrome

Genetic Tests for Lymphedema-Distichiasis Syndrome

Genetic tests related to Lymphedema-Distichiasis Syndrome:

# Genetic test Affiliating Genes
1 Distichiasis-Lymphedema Syndrome 28 FOXC2
2 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 28

Anatomical Context for Lymphedema-Distichiasis Syndrome

Organs/tissues related to Lymphedema-Distichiasis Syndrome:

MalaCards : Eye, Skin, Heart, Lung

Publications for Lymphedema-Distichiasis Syndrome

Articles related to Lymphedema-Distichiasis Syndrome:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 53 62 24 57 5
11371511 2001
2
Novel missense mutations in the FOXC2 gene alter transcriptional activity. 53 62 57 5
19760751 2009
3
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 24 57 5
18197197 2008
4
A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. 53 62 57 5
15523639 2004
5
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. 24 57 5
12114478 2002
6
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. 24 57 5
11694548 2001
7
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 62 57 5
11078474 2000
8
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function. 57 5
27276711 2016
9
Clinical and genetic study of 46 Italian patients with primary lymphedema. 57 5
22768468 2012
10
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. 57 5
11499682 2001
11
A gene for lymphedema-distichiasis maps to 16q24.3. 57 5
10417285 1999
12
A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES. 57 5
14269895 1964
13
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 24 57
17372167 2007
14
Spinal extradural arachnoid cysts associated with distichiasis and lymphedema. 53 62 57
17366583 2007
15
FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. 53 62 57
12719382 2003
16
Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography. 24 57
3573000 1987
17
Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome. 62 57
29406328 2018
18
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. 62 5
16081467 2005
19
Lymphedema-Distichiasis Syndrome 62 5
20301630 2005
20
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 62 5
12485195 2002
21
Lymphedema-distichiasis syndrome: report of a case and review. 62 57
10086462 1999
22
Hereditary lymphedema and distichiasis. 62 57
2064580 1991
23
Renal anomalies and lymphedema distichiasis syndrome. A rare association? 62 24
28544699 2017
24
Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome. 62 24
27752211 2016
25
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. 62 24
24278289 2013
26
A family with lymphoedema-distichiasis where identical twins have a discordant phenotype. 57
17309653 2007
27
Distichiasis without lymphoedema? 57
15044942 2004
28
Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. 57
9409679 1997
29
The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. 57
9106663 1997
30
Distichiasis-lymphedema syndrome: tetralogy of Fallot, chylothorax, and neonatal death. 62 24
8985486 1996
31
A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome. 57
7656589 1995
32
Congenital heart disease in patients with primary lymphedemas. 57
7144249 1982
33
Idiopathic ("congenital") spinal arachnoid diverticula. Clinical diagnosis and surgical results. 57
6780735 1981
34
Hereditary spinal arachnoid cysts, distichiasis, and lymphedema. 57
7377759 1980
35
Syndrome of lymphoedema and distichiasis. 57
7372334 1980
36
Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects. 57
5434594 1970
37
Congenital intraspinal extradural cyst. Report of three cases in one family. 57
5659579 1968
38
Congenital spinal extradural cyst in two siblings. 57
6037336 1967
39
Foxc2 is required for proper cardiac neural crest cell migration, outflow tract septation, and ventricle expansion. 24
30376688 2018
40
Human venous valve disease caused by mutations in FOXC2 and GJC2. 24
28724617 2017
41
Timing, rates and spectra of human germline mutation. 24
26656846 2016
42
Etiology of non-immune hydrops fetalis: An update. 24
25712632 2015
43
A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation. 24
25252123 2014
44
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. 24
22407726 2012
45
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. 24
21918810 2012
46
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. 53 62
20450314 2010
47
Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. 53 62
20218083 2009
48
FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate. 53 62
19369394 2009
49
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. 53 62
18986489 2008
50
Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. 53 62
19013876 2008

Variations for Lymphedema-Distichiasis Syndrome

ClinVar genetic disease variations for Lymphedema-Distichiasis Syndrome:

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXC2 NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) DUP Pathogenic
7250 rs1567571702 GRCh37: 16:86602029-86602030
GRCh38: 16:86568423-86568424
2 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) DEL Pathogenic
7251 rs1567571141 GRCh37: 16:86601230-86601240
GRCh38: 16:86567624-86567634
3 FOXC2 NM_005251.3(FOXC2):c.1331del (p.Gln444fs) DEL Pathogenic
7252 rs1597403198 GRCh37: 16:86602272-86602272
GRCh38: 16:86568666-86568666
4 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.209dup (p.Val71fs) DUP Pathogenic
7253 rs1567571075 GRCh37: 16:86601149-86601150
GRCh38: 16:86567543-86567544
5 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) DUP Pathogenic
7254 rs1567571065 GRCh37: 16:86601140-86601141
GRCh38: 16:86567534-86567535
6 FOXC2 NM_005251.3(FOXC2):c.588dup (p.Thr197fs) DUP Pathogenic
7255 rs1567571345 GRCh37: 16:86601527-86601528
GRCh38: 16:86567921-86567922
7 FOXC2 NM_005251.3(FOXC2):c.509del (p.Lys170fs) DEL Pathogenic
7256 rs1567571276 GRCh37: 16:86601446-86601446
GRCh38: 16:86567840-86567840
8 FOXC2 NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) DEL Pathogenic
7257 rs1567571564 GRCh37: 16:86601855-86601862
GRCh38: 16:86568249-86568256
9 FOXC2 NM_005251.3(FOXC2):c.1006dup (p.Met336fs) DUP Pathogenic
7258 rs1567571636 GRCh37: 16:86601946-86601947
GRCh38: 16:86568340-86568341
10 FOXC2 NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) INDEL Pathogenic
7259 rs1567571360 GRCh37: 16:86601543-86601622
GRCh38: 16:86567937-86568016
11 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) SNV Pathogenic
7260 rs121909106 GRCh37: 16:86601315-86601315
GRCh38: 16:86567709-86567709
12 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.362G>A (p.Arg121His) SNV Pathogenic
7261 rs121909107 GRCh37: 16:86601303-86601303
GRCh38: 16:86567697-86567697
13 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) SNV Pathogenic
599243 rs1043354227 GRCh37: 16:86601063-86601063
GRCh38: 16:86567457-86567457
14 FOXC2 NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) SNV Pathogenic
599244 rs1567571823 GRCh37: 16:86602146-86602146
GRCh38: 16:86568540-86568540
15 FOXC2 NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) SNV Pathogenic
599245 rs1567571863 GRCh37: 16:86602199-86602199
GRCh38: 16:86568593-86568593
16 FOXC2 NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) DEL Pathogenic
987887 rs1974220729 GRCh37: 16:86601502-86601512
GRCh38: 16:86567896-86567906
17 FOXC2 NM_005251.3(FOXC2):c.710dup (p.Gln238fs) DUP Pathogenic
995573 rs1974224118 GRCh37: 16:86601650-86601651
GRCh38: 16:86568044-86568045
18 FOXC2 NM_005251.3(FOXC2):c.973del (p.Ala325fs) DEL Pathogenic
1032303 rs1974229664 GRCh37: 16:86601911-86601911
GRCh38: 16:86568305-86568305
19 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.298C>T (p.Gln100Ter) SNV Pathogenic
1322931 GRCh37: 16:86601239-86601239
GRCh38: 16:86567633-86567633
20 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) SNV Pathogenic
599242 rs1567571184 GRCh37: 16:86601302-86601302
GRCh38: 16:86567696-86567696
21 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) SNV Likely Pathogenic
7249 rs104894516 GRCh37: 16:86601238-86601238
GRCh38: 16:86567632-86567632
22 FOXC2 and overlap with 1 gene(s) NM_005251.2(FOXC2):c.(?_1)_(1506_?)del DEL Likely Pathogenic
623171 GRCh37: 16:86600942-86602447
GRCh38: 16:86567336-86568841
23 FOXC2 NM_005251.3(FOXC2):c.1221del (p.Gln407fs) DEL Likely Pathogenic
1687211 GRCh37: 16:86602162-86602162
GRCh38: 16:86568556-86568556
24 FOXC2 NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) SNV Likely Pathogenic
692067 rs1597402936 GRCh37: 16:86601880-86601880
GRCh38: 16:86568274-86568274
25 FOXC2-AS1, FOXC2 NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) SNV Likely Pathogenic
916580 rs1974216738 GRCh37: 16:86601288-86601288
GRCh38: 16:86567682-86567682
26 FOXC2 NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg) SNV Uncertain Significance
547948 rs147258453 GRCh37: 16:86602272-86602272
GRCh38: 16:86568666-86568666
27 FOXC2 NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg) SNV Uncertain Significance
1030896 rs966178183 GRCh37: 16:86601701-86601701
GRCh38: 16:86568095-86568095
28 FOXC2 NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) SNV Uncertain Significance
1030897 rs1974225710 GRCh37: 16:86601723-86601723
GRCh38: 16:86568117-86568117

UniProtKB/Swiss-Prot genetic disease variations for Lymphedema-Distichiasis Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 FOXC2 p.Ser125Leu VAR_018418 rs121909106

Expression for Lymphedema-Distichiasis Syndrome

Search GEO for disease gene expression data for Lymphedema-Distichiasis Syndrome.

Pathways for Lymphedema-Distichiasis Syndrome

GO Terms for Lymphedema-Distichiasis Syndrome

Cellular components related to Lymphedema-Distichiasis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.58 SOX18 PROX1 NFATC1 FOXR1 FOXP2 FOXL1

Biological processes related to Lymphedema-Distichiasis Syndrome according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of DNA-templated transcription GO:0006355 10.24 SOX18 PROX1 NFATC1 FOXR1 FOXP2 FOXL1
2 heart development GO:0007507 10.21 SOX18 FOXL1 FOXF1 FOXC2 FOXC1
3 positive regulation of endothelial cell proliferation GO:0001938 10.1 VEGFC PROX1 FLT4
4 anatomical structure morphogenesis GO:0009653 10.1 EFNB2 FOXC1 FOXC2 FOXL1 LYVE1 SOX18
5 somitogenesis GO:0001756 10.06 FOXF1 FOXC2 FOXC1
6 positive regulation of endothelial cell migration GO:0010595 10.06 PROX1 FOXC2 FLT4 CCBE1
7 sprouting angiogenesis GO:0002040 10.04 CCBE1 FLT4 VEGFC
8 cell population proliferation GO:0008283 10.02 VEGFC PROX1 FOXC2 FOXC1
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 10.01 PROX1 FOXC2 FOXC1
10 angiogenesis GO:0001525 10 VEGFC SOX18 FOXC1 FLT4 EPHB4 EFNB2
11 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.97 VEGFC FOXC2 FOXC1 FLT4
12 embryonic heart tube development GO:0035050 9.95 FOXC1 FOXC2 SOX18
13 regulation of organ growth GO:0046620 9.91 FOXC2 FOXC1
14 heart morphogenesis GO:0003007 9.91 FOXC2 FOXC1 EPHB4
15 vascular endothelial growth factor signaling pathway GO:0038084 9.91 VEGFC FOXC1 FLT4
16 lymphatic endothelial cell differentiation GO:0060836 9.9 SOX18 PROX1
17 endocardium formation GO:0060214 9.88 SOX18 PROX1
18 venous blood vessel morphogenesis GO:0048845 9.88 PROX1 EFNB2 CCBE1
19 positive regulation of lymphangiogenesis GO:1901492 9.85 VEGFC CCBE1
20 apoptotic process involved in outflow tract morphogenesis GO:0003275 9.83 FOXC1 FOXC2
21 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.81 FOXC1 FOXC2
22 paraxial mesoderm formation GO:0048341 9.77 FOXC2 FOXC1
23 blood vessel development GO:0001568 9.7 FOXC1 FOXC2 FOXF1 GJA4 SOX18
24 lymphangiogenesis GO:0001946 9.65 SOX18 PROX1 FOXC2 FLT4 CCBE1
25 lymph vessel development GO:0001945 9.32 SOX18 PROX1 FOXC2 FOXC1 FLT4 EFNB2

Molecular functions related to Lymphedema-Distichiasis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.27 FOXC1 FOXC2 FOXF1 FOXL1 FOXP2 NFATC1
2 DNA binding GO:0003677 10.25 SOX18 PROX1 NFATC1 FOXR1 FOXP2 FOXL1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.21 FOXC1 FOXC2 FOXF1 FOXL1 FOXP2 FOXR1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.1 SOX18 NFATC1 FOXR1 FOXF1 FOXC2 FOXC1
5 transcription cis-regulatory region binding GO:0000976 9.81 SOX18 PROX1 FOXF1 FOXC2 FOXC1
6 DNA-binding transcription factor activity GO:0003700 9.8 FOXC1 FOXC2 FOXF1 FOXL1 FOXP2 FOXR1
7 sequence-specific DNA binding GO:0043565 9.44 SOX18 PROX1 FOXR1 FOXP2 FOXL1 FOXF1

Sources for Lymphedema-Distichiasis Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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