Milroy disease
Synonyms: Hereditary lymphedema type I · Nonne-Milroy lymphedema
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Milroy disease | Hereditary lymphedema type I · Nonne-Milroy lymphedema |
| fr | Maladie de Milroy | Lymphoedème de Nonne-Milroy · Lymphoedème héréditaire type I |
| de | Milroy-Krankheit | Lymphödem, hereditäres, Typ I · Lymphödem, kongenitales primäres · Nonne-Milroy-Lymphödem |
| es | Enfermedad de Milroy | Linfedema de Nonne-Milroy · Linfedema hereditario tipo I |
| it | Malattia di Milroy | Linfedema di Nonne-Milroy · Linfedema ereditario, tipo I · Linfedema primitivo congenito |
| nl | Ziekte van Milroy | Erfelijk lymfoedeem type I · Lymfoedeem van Nonne-Milroy |
| pt | Doença Milroy | Linfedema Nonne-Milroy · Linfedema hereditário tipo I |
| pl | Choroba Milroy'a | Dziedziczny obrzęk limfatyczny typu I · Obrzęk limfatyczny Nonne'a i Milroy'a · Wrodzony pierwotny obrzęk limfatyczny |
| cs | Milroyova nemoc | Vrozený primární lymfedém · Hereditární lymfedém, typ I · Nonneho-Milroyův lymfedém · Nonne-Milroyův lymfedém |
| uk | Хвороба Мілроя | Спадкова лімфедема типу I · Лімфедема Нонне-Мільроя |
| zh | 米尔罗伊病 | 遗传性淋巴水肿Ⅰ型 |
| tr | Milroy hastalığı | Nonne-Milroy lenfödem · Kalıtsal lenfödem tip I |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153100 | BTNT | validated | |
| OMIM | 611944 | BTNT | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | index | validated |
| UMLS | C1704423 | E | validated | |
| GARD | 7220 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2416Congenital 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:
- ORPHA:79450Non-hereditary congenital primary lymphedema moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLT4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3767 | ENSG00000037280 | 136352 | 5q35.3 | fms related receptor tyrosine kinase 4 | 20301417[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Israel | Value and class | Validated | 12224079[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2019-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001004 | Lymphedema | |
| Frequent (79-30%) | ||
| HP:0002624 | Abnormal venous morphology | |
| HP:0001785 | Ankle swelling | |
| HP:0100658 | Cellulitis | |
| HP:0000034 | Hydrocele testis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0010741 | Pedal edema | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| HP:0100797 | Toenail dysplasia | |
| HP:0002619 | Varicose veins | |
| Occasional (29-5%) | ||
| HP:0200058 | Angiosarcoma | |
| HP:0000708 | Atypical behavior | |
| HP:0000286 | Epicanthus | |
| HP:0100725 | Lichenification | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0001328 | Specific learning disability | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001055 | Erysipelas | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 17458866[PMID]_23074044[PMID]_27730656[PMID]_28748022[PMID]_30941160[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79452
- This record as JSON: /data/d/79452.json