Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Hereditäres Lymphödem Typ 1d

Milroy-ähnliches primäres Lymphödem ist eine autosomal dominante Erkrankung die durch trunkierende Mutationen im VEGFC-Gen hervorgerufen wird.

Gliederung

Hereditäres Lymphödem
Emberger-Syndrom
Hennekam-Syndrom
Hereditäres Lymphödem Typ 1a
Hereditäres Lymphödem Typ 1c
Hereditäres Lymphödem Typ 1d
VEGFC
Hereditäres Lymphödem mit Distichiasis
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom

Referenzen:

1.

Gordon K et al. (2013) Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

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2.

Villefranc JA et al. (2013) A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development.

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3.

Rezaie T et al. (2008) Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

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4.

Finegold DN et al. (2001) Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

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5.

Emberger JM et al. (1979) [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].

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6.

None () ////

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7.

None (1961) [Observations on Nonne-Milroy-Meige syndrome].

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8.

Avasthey P et al. (1968) Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family.

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9.

None (1966) Yellow nails, lymphoedema, and pleural effusions.

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10.

Figueroa AA et al. (1983) Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature.

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11.

Herbert FA et al. (1983) Hereditary late-onset lymphedema with pleural effusion and laryngeal edema.

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12.

Wheeler ES et al. (1981) Familial lymphedema praecox: Meige's disease.

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13.

Andersson HC et al. (1995) Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications.

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14.

OMIM.ORG article

Omim 153200 external link
15.

Orphanet article

Orphanet ID 77240 external link
Update: 14. August 2020
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