ORPHA:90186

Meige disease

Synonyms: Hereditary lymphedema type II · Meige lymphedema

Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Meige disease	Hereditary lymphedema type II · Meige lymphedema
fr	Maladie de Meige	Lymphoedème héréditaire type II
de	Meige-Krankheit	Lymphödem, hereditäres, Typ II · Meige-Lymphödem
es	Enfermedad de Meige	Linfedema de Meige · Linfedema hereditario tipo II
it	Malattia di Meige	Linedema primitivo a esordio tardivo · Linfedema di Meige · Linfedema ereditario, tipo II
nl	Ziekte van Meige	Erfelijk lymfoedeem type II · Lymfoedeem van Meige
pt	Doença de Meige
pl	Choroba Meige'a	Dziedziczny obrzęk limfatyczny typu II · Obrzęk limfatyczny Meige'a · Pierwotny obrzęk limfatyczny późny
cs	Meigeho choroba	Hereditární lymfedém, typ II · Primární lymfedém s pozdním nástupem · Meigeho lymfedém
uk	Хвороба Мейге	Спадкова лімфедема II типу · Лімфедема Мейге
zh	Meige病	遗传性淋巴水肿II型
tr	Meige hastalığı	Meige lenfödem · Kalıtsal lenfödem tip II

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	153200	E		validated
ICD-10	Q82.0	NTBT	index	validated
ICD-11	BD93.0	NTBT	index	validated
MONDO	0007920	E		validated
UMLS	C1704424	E		validated
GARD	3324	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:289825Late-onset primary lymphedema without systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases

No children.

Codes that Orphanet moved or referred to this one:

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
EPHB4	Disease-causing germline mutation(s) in	Assessed	HGNC:3395	ENSG00000196411	600011	7q22.1	EPH receptor B4	34231312[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

21 annotations · validated 2019-04-05

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001004	Lymphedema
Frequent (79-30%)
HP:0002849	Absence of lymph node germinal center
HP:0000987	Atypical scarring of skin
HP:0100658	Cellulitis
HP:0031288	Cobblestone-like hyperkeratosis
HP:0002732	Lymph node hypoplasia
HP:0010741	Pedal edema
HP:0003550	Predominantly lower limb lymphedema
HP:0005406	Recurrent bacterial skin infections
HP:0001581	Recurrent skin infections
HP:0010781	Skin dimple
HP:0200041	Skin erosion
Occasional (29-5%)
HP:0200058	Angiosarcoma
HP:0007514	Edema of the dorsum of hands
HP:0000282	Facial edema
HP:0012027	Laryngeal edema
HP:0100539	Periorbital edema
HP:0012398	Peripheral edema
HP:0002202	Pleural effusion
HP:0200042	Skin ulcer
HP:0002619	Varicose veins

Annotation source: 29132848[PMID]_18197197[PMID]_6679236[PMID]_7747790[PMID]