LPHDST
MCID: LYM029
MIFTS: 52

Lymphedema-Distichiasis Syndrome (LPHDST)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lymphedema-Distichiasis Syndrome

MalaCards integrated aliases for Lymphedema-Distichiasis Syndrome:

Name: Lymphedema-Distichiasis Syndrome 57 12 73 25 20 43 58 72 36 54 15
Lymphedema with Distichiasis 57 12 20 43 72
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 57 29 13 6
Distichiasis-Lymphedema Syndrome 43 29 6
Lphdst 57 12 72
Lymphedema Distichiasis Syndrome 44 70
Hereditary Lymphedema-Distichiasis Syndrome 20
Syndrome, Lymphedema-Distichiasis 39
Lymphedema Distichiasis 73

Characteristics:

Orphanet epidemiological data:

58
lymphedema-distichiasis syndrome
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of lymphedema around puberty
onset occurs earlier in males than females


HPO:

31
lymphedema-distichiasis syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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

GARD : 20 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 mutations 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. Treatment is directed at the specific symptoms present in each case. This may include complete decongestive therapy, a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, cryotherapy, or electrolysis.

MalaCards based summary : Lymphedema-Distichiasis Syndrome, also known as lymphedema with distichiasis, is related to distichiasis and hereditary lymphedema i, 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, heart and lung, and related phenotypes are photophobia and conjunctivitis

Disease Ontology : 12 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.

MedlinePlus Genetics : 43 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.

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 05-Apr-2021)

KEGG : 36 Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be caused by mutations in the forkhead transcription factor, FOXC2.

UniProtKB/Swiss-Prot : 72 Lymphedema-distichiasis syndrome: 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.

Wikipedia : 73 Lymphedema-distichiasis syndrome is a medical condition associated with the FOXC2 gene. People with this... 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 61)
# Related Disease Score Top Affiliating Genes
1 distichiasis 31.3 FOXP2 FOXL1 FOXC2-AS1 FOXC2 FOXC1
2 hereditary lymphedema i 31.1 VEGFC SOX18 FOXC2 FLT4 CCBE1
3 primary lymphedema 30.5 VEGFC FOXC2 FLT4
4 congenital lymphedema 30.3 VEGFC FOXC2 FLT4
5 lymphatic malformation 1 30.2 VEGFC GJC2 FLT4
6 hereditary lymphedema 30.0 VEGFC SOX18 FOXL1 FOXC2-AS1 FOXC2 FOXC1
7 cleft palate, isolated 10.4
8 ptosis 10.4
9 varicose veins 10.3
10 yellow nail syndrome 10.3 SOX18 FOXC2
11 cholestasis-lymphedema syndrome 10.2 SOX18 CCBE1
12 ifap syndrome 2 10.2
13 scoliosis 10.2
14 klippel-trenaunay-weber syndrome 10.2 SOX18 FOXC2 FLT4
15 axenfeld-rieger syndrome 10.2 FOXP2 FOXC2 FOXC1
16 capillary lymphangioma 10.2 LYVE1 FLT4
17 lymphocele 10.1 VEGFC LYVE1
18 lymphangiosarcoma 10.1 LYVE1 FLT4
19 lymphatic malformation 5 10.1 SOX18 FOXC2 FLT4 CCBE1
20 noonan syndrome 1 10.1
21 pectus excavatum 10.1
22 strabismus 10.1
23 tetralogy of fallot 10.1
24 renal hypodysplasia/aplasia 1 10.1
25 arachnoid cysts, intracranial 10.1
26 hydrops fetalis, nonimmune 10.1
27 pulmonic stenosis 10.1
28 patent ductus arteriosus 1 10.1
29 lymphatic malformation 7 10.1
30 hereditary lymphedema ia 10.1
31 venous insufficiency 10.1
32 hydronephrosis 10.1
33 lagophthalmos 10.1
34 gonadal dysgenesis 10.1
35 glomerulonephritis 10.1
36 cellulitis 10.1
37 turner syndrome 10.1
38 conjunctivitis 10.1
39 cleft lip 10.1
40 mechanical strabismus 10.1
41 diabetes mellitus 10.1
42 pseudo-turner syndrome 10.1
43 isolated pierre robin sequence 10.1
44 cleft lip/palate 10.1
45 renal agenesis, bilateral 10.1
46 optic disc pit 10.1
47 gorham's disease 10.1 VEGFC LYVE1 FLT4
48 hypotrichosis-lymphedema-telangiectasia syndrome 10.1 SOX18 LYVE1 FOXC2 FLT4
49 lymphangitis 10.1 VEGFC LYVE1 FLT4
50 pyriform sinus cancer 10.1 VEGFC LYVE1 FLT4

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

UMLS symptoms related to Lymphedema-Distichiasis Syndrome:


photophobia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00207-A-1 8.92 EFNB2
2 Decreased viability with paclitaxel GR00207-A-2 8.92 FOXC1
3 Decreased viability with paclitaxel GR00207-A-3 8.92 EFNB2 FOXC1

MGI Mouse Phenotypes related to Lymphedema-Distichiasis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 EFNB2 FLT4 FOXC1 FOXC2 FOXF1 GJA4
2 mortality/aging MP:0010768 10.03 CCBE1 EFNB2 FLT4 FOXC1 FOXC2 FOXF1
3 digestive/alimentary MP:0005381 9.86 EFNB2 FLT4 FOXC1 FOXC2 FOXF1 FOXL1
4 normal MP:0002873 9.56 CCBE1 EFNB2 FLT4 FOXC1 FOXC2 GJC2
5 respiratory system MP:0005388 9.17 EFNB2 FOXC1 FOXC2 FOXF1 GJA4 ITGA9

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 29 FOXC2
2 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 29

Anatomical Context for Lymphedema-Distichiasis Syndrome

MalaCards organs/tissues related to Lymphedema-Distichiasis Syndrome:

40
Eye, Heart, Lung

Publications for Lymphedema-Distichiasis Syndrome

Articles related to Lymphedema-Distichiasis Syndrome:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 6 25 57 54 61
11371511 2001
2
Novel missense mutations in the FOXC2 gene alter transcriptional activity. 54 61 57 6
19760751 2009
3
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 25 57 6
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. 57 6 54 61
15523639 2004
5
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. 25 6 57
12114478 2002
6
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. 6 57 25
11694548 2001
7
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 57 6 61
11078474 2000
8
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function. 57 6
27276711 2016
9
Clinical and genetic study of 46 Italian patients with primary lymphedema. 6 57
22768468 2012
10
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. 6 57
11499682 2001
11
A gene for lymphedema-distichiasis maps to 16q24.3. 57 6
10417285 1999
12
A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES. 57 6
14269895 1964
13
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 57 25
17372167 2007
14
Spinal extradural arachnoid cysts associated with distichiasis and lymphedema. 61 57 54
17366583 2007
15
FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. 57 61 54
12719382 2003
16
Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography. 57 25
3573000 1987
17
Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome. 61 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. 61 6
16081467 2005
19
Lymphedema-Distichiasis Syndrome 61 6
20301630 2005
20
Lymphedema-distichiasis syndrome: report of a case and review. 61 57
10086462 1999
21
Hereditary lymphedema and distichiasis. 61 57
2064580 1991
22
Renal anomalies and lymphedema distichiasis syndrome. A rare association? 61 25
28544699 2017
23
Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome. 61 25
27752211 2016
24
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. 25 61
24278289 2013
25
A family with lymphoedema-distichiasis where identical twins have a discordant phenotype. 57
17309653 2007
26
Distichiasis without lymphoedema? 57
15044942 2004
27
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 6
12485195 2002
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
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
31
Congenital heart disease in patients with primary lymphedemas. 57
7144249 1982
32
Idiopathic ("congenital") spinal arachnoid diverticula. Clinical diagnosis and surgical results. 57
6780735 1981
33
Hereditary spinal arachnoid cysts, distichiasis, and lymphedema. 57
7377759 1980
34
Syndrome of lymphoedema and distichiasis. 57
7372334 1980
35
Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects. 57
5434594 1970
36
Congenital intraspinal extradural cyst. Report of three cases in one family. 57
5659579 1968
37
Congenital spinal extradural cyst in two siblings. 57
6037336 1967
38
Foxc2 is required for proper cardiac neural crest cell migration, outflow tract septation, and ventricle expansion. 25
30376688 2018
39
Human venous valve disease caused by mutations in FOXC2 and GJC2. 25
28724617 2017
40
Timing, rates and spectra of human germline mutation. 25
26656846 2016
41
Etiology of non-immune hydrops fetalis: An update. 25
25712632 2015
42
A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation. 25
25252123 2014
43
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. 25
22407726 2012
44
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. 25
21918810 2012
45
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. 61 54
20450314 2010
46
Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. 54 61
20218083 2009
47
FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate. 61 54
19369394 2009
48
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. 61 54
18986489 2008
49
Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. 54 61
19013876 2008
50
Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature. 25
17459037 2007

Variations for Lymphedema-Distichiasis Syndrome

ClinVar genetic disease variations for Lymphedema-Distichiasis Syndrome:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) SNV Pathogenic 7249 rs104894516 GRCh37: 16:86601238-86601238
GRCh38: 16:86567632-86567632
2 FOXC2 NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) Duplication Pathogenic 7250 rs1567571702 GRCh37: 16:86602029-86602030
GRCh38: 16:86568423-86568424
3 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) Deletion Pathogenic 7251 rs1567571141 GRCh37: 16:86601230-86601240
GRCh38: 16:86567624-86567634
4 FOXC2 NM_005251.3(FOXC2):c.1331del (p.Gln444fs) Deletion Pathogenic 7252 rs1597403198 GRCh37: 16:86602272-86602272
GRCh38: 16:86568666-86568666
5 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.209dup (p.Val71fs) Duplication Pathogenic 7253 rs1567571075 GRCh37: 16:86601149-86601150
GRCh38: 16:86567543-86567544
6 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) Duplication Pathogenic 7254 rs1567571065 GRCh37: 16:86601140-86601141
GRCh38: 16:86567534-86567535
7 FOXC2 NM_005251.3(FOXC2):c.588dup (p.Thr197fs) Duplication Pathogenic 7255 rs1567571345 GRCh37: 16:86601527-86601528
GRCh38: 16:86567921-86567922
8 FOXC2 NM_005251.3(FOXC2):c.509del (p.Lys170fs) Deletion Pathogenic 7256 rs1567571276 GRCh37: 16:86601446-86601446
GRCh38: 16:86567840-86567840
9 FOXC2 NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) Deletion Pathogenic 7257 rs1567571564 GRCh37: 16:86601855-86601862
GRCh38: 16:86568249-86568256
10 FOXC2 NM_005251.3(FOXC2):c.1006dup (p.Met336fs) Duplication Pathogenic 7258 rs1567571636 GRCh37: 16:86601946-86601947
GRCh38: 16:86568340-86568341
11 FOXC2 NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) Indel Pathogenic 7259 rs1567571360 GRCh37: 16:86601543-86601622
GRCh38: 16:86567937-86568016
12 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) SNV Pathogenic 7260 rs121909106 GRCh37: 16:86601315-86601315
GRCh38: 16:86567709-86567709
13 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.362G>A (p.Arg121His) SNV Pathogenic 7261 rs121909107 GRCh37: 16:86601303-86601303
GRCh38: 16:86567697-86567697
14 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) SNV Pathogenic 599243 rs1043354227 GRCh37: 16:86601063-86601063
GRCh38: 16:86567457-86567457
15 FOXC2 NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) SNV Pathogenic 599244 rs1567571823 GRCh37: 16:86602146-86602146
GRCh38: 16:86568540-86568540
16 FOXC2 NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) SNV Pathogenic 599245 rs1567571863 GRCh37: 16:86602199-86602199
GRCh38: 16:86568593-86568593
17 FOXC2 NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) Deletion Pathogenic 987887 GRCh37: 16:86601502-86601512
GRCh38: 16:86567896-86567906
18 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) SNV Pathogenic 599242 rs1567571184 GRCh37: 16:86601302-86601302
GRCh38: 16:86567696-86567696
19 FOXC2 NM_005251.3(FOXC2):c.710dup (p.Gln238fs) Duplication Pathogenic 995573 GRCh37: 16:86601650-86601651
GRCh38: 16:86568044-86568045
20 FOXC2 NM_005251.3(FOXC2):c.973del (p.Ala325fs) Deletion Pathogenic 1032303 GRCh37: 16:86601911-86601911
GRCh38: 16:86568305-86568305
21 FOXC2 and overlap with 1 gene(s) NC_000016.10:g.(?_86567336)_(86568841_?)del Deletion Likely pathogenic 623171 GRCh37: 16:86600942-86602447
GRCh38: 16:86567336-86568841
22 FOXC2 NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) SNV Likely pathogenic 692067 rs1597402936 GRCh37: 16:86601880-86601880
GRCh38: 16:86568274-86568274
23 FOXC2-AS1 , FOXC2 NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) SNV Likely pathogenic 916580 GRCh37: 16:86601288-86601288
GRCh38: 16:86567682-86567682
24 FOXC2 NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg) SNV Uncertain significance 1030896 GRCh37: 16:86601701-86601701
GRCh38: 16:86568095-86568095
25 FOXC2 NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) SNV Uncertain significance 1030897 GRCh37: 16:86601723-86601723
GRCh38: 16:86568117-86568117
26 FOXC2 NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg) SNV Uncertain significance 547948 rs147258453 GRCh37: 16:86602272-86602272
GRCh38: 16:86568666-86568666

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.67 VEGFC FLT4 EFNB2
2 11.08 VEGFC FLT4 EFNB2
3 10.62 VEGFC FLT4
4 10.46 VEGFC FOXC2 FOXC1
5
Show member pathways
10.36 VEGFC FLT4

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 9.23 SOX18 FOXR1 FOXP2 FOXN4 FOXL1 FOXF1
2 connexin complex GO:0005922 8.96 GJC2 GJA4

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 transcription, DNA-templated GO:0006355 10.16 SOX18 FOXR1 FOXP2 FOXN4 FOXL1 FOXF1
2 cell differentiation GO:0030154 10.08 VEGFC SOX18 FOXN4 FOXL1 FOXC2 FOXC1
3 multicellular organism development GO:0007275 10.08 VEGFC FOXN4 FOXL1 FOXC2 FOXC1 FLT4
4 heart development GO:0007507 9.85 SOX18 FOXL1 FOXF1 FOXC2 FOXC1
5 angiogenesis GO:0001525 9.8 VEGFC SOX18 FOXC1 FLT4 EFNB2 CCBE1
6 positive regulation of endothelial cell migration GO:0010595 9.75 FOXC2 FLT4 CCBE1
7 anatomical structure morphogenesis GO:0009653 9.73 SOX18 LYVE1 FOXL1 FOXC2 FOXC1 EFNB2
8 somitogenesis GO:0001756 9.72 FOXF1 FOXC2 FOXC1
9 sprouting angiogenesis GO:0002040 9.7 VEGFC FLT4 CCBE1
10 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.67 VEGFC FOXC2 FOXC1 FLT4
11 artery morphogenesis GO:0048844 9.62 FOXC2 FOXC1
12 neural crest cell development GO:0014032 9.62 FOXC2 FOXC1
13 regulation of blood vessel diameter GO:0097746 9.61 FOXC2 FOXC1
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.61 FOXC2 FOXC1
15 vascular endothelial growth factor signaling pathway GO:0038084 9.61 VEGFC FOXC1 FLT4
16 respiratory system process GO:0003016 9.6 FLT4 CCBE1
17 cardiac muscle cell proliferation GO:0060038 9.59 FOXC2 FOXC1
18 regulation of organ growth GO:0046620 9.58 FOXC2 FOXC1
19 embryonic heart tube development GO:0035050 9.58 SOX18 FOXC2 FOXC1
20 paraxial mesoderm formation GO:0048341 9.57 FOXC2 FOXC1
21 blood vessel development GO:0001568 9.55 SOX18 GJA4 FOXF1 FOXC2 FOXC1
22 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 9.51 FOXC2 FOXC1
23 positive regulation of lymphangiogenesis GO:1901492 9.49 VEGFC CCBE1
24 lymphangiogenesis GO:0001946 9.26 SOX18 FOXC2 FLT4 CCBE1
25 lymph vessel development GO:0001945 9.02 SOX18 FOXC2 FOXC1 FLT4 CCBE1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.01 SOX18 FOXR1 FOXP2 FOXN4 FOXL1 FOXF1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 SOX18 FOXR1 FOXP2 FOXN4 FOXL1 FOXF1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 SOX18 FOXF1 FOXC2 FOXC1
4 DNA-binding transcription factor activity GO:0003700 9.56 SOX18 FOXR1 FOXP2 FOXN4 FOXL1 FOXF1
5 gap junction channel activity GO:0005243 9.37 GJC2 GJA4
6 DNA binding, bending GO:0008301 9.32 FOXL1 FOXC1
7 sequence-specific DNA binding GO:0043565 9.23 SOX18 FOXR1 FOXP2 FOXN4 FOXL1 FOXF1

Sources for Lymphedema-Distichiasis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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