Lymphedema-Distichiasis Syndrome (LPHDST)

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Disease Ontology 12 DOID:0111509 OMIM® 57 153400 KEGG 36 H02167 MeSH 44 C537710 D008209 NCIt 50 C128191 SNOMED-CT 67 8634009 MESH via Orphanet 45 C537710

ICD10 via Orphanet 33 Q82.0 UMLS via Orphanet 71 C0265345 Orphanet 58 ORPHA33001 MedGen 41 C0265345 C2675066 SNOMED-CT via HPO 68 102594003 11731003 11934000 127559009 128045006 128060009 128306009 12856003 128936008 193570009 197679002 197927001 2055003 234097001 246622003 247053007 253549006 263681008 26544005 28689008 29738008 30213001 30275001 30288003 385627004 399989005 409668002 428255004 443250000 44808001 45342007 50792001 53654007 62909004 63567004 698247007 73211009 80281008 83330001 86299006 87979003 91514001 95339000 9826008 more UMLS 70 C0265345

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

Clinical features from OMIM®:

153400 (Updated 05-Apr-2021)

#	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

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

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