LMPHM2
MCID: LYM146
MIFTS: 16

Lymphatic Malformation 2 (LMPHM2)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Lymphatic Malformation 2

MalaCards integrated aliases for Lymphatic Malformation 2:

Name: Lymphatic Malformation 2 56
Lymphedema, Hereditary, Ib, Formerly; Lmph1b, Formerly 56
Lymphedema, Hereditary, Ib, Formerly 56
Lmph1b, Formerly 56
Lmphm2 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
onset in early childhood or infancy
progressive, with full manifestations at puberty
swelling starts to fade by age 30 years and gradually becomes unremarkable


HPO:

31
lymphatic malformation 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 56 611944
OMIM Phenotypic Series 56 PS153100
MedGen 41 C4747568
SNOMED-CT via HPO 68 234097001 263681008 30213001

Summaries for Lymphatic Malformation 2

OMIM : 56 Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (611944)

MalaCards based summary : Lymphatic Malformation 2, is also known as lymphedema, hereditary, ib, formerly; lmph1b, formerly. Affiliated tissues include skin and endothelial, and related phenotype is lymphedema.

Related Diseases for Lymphatic Malformation 2

Symptoms & Phenotypes for Lymphatic Malformation 2

Human phenotypes related to Lymphatic Malformation 2:

31
# Description HPO Frequency HPO Source Accession
1 lymphedema 31 HP:0001004

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
papillomatosis of affected area

Muscle Soft Tissue:
lymphedema of the lower limbs (swelling is confined to below the knees)

Clinical features from OMIM:

611944

Drugs & Therapeutics for Lymphatic Malformation 2

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 2

Genetic Tests for Lymphatic Malformation 2

Anatomical Context for Lymphatic Malformation 2

MalaCards organs/tissues related to Lymphatic Malformation 2:

40
Skin, Endothelial

Publications for Lymphatic Malformation 2

Articles related to Lymphatic Malformation 2:

# Title Authors PMID Year
1
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 56
24744435 2014
2
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. 56
23410910 2013
3
Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. 56
18193458 2008
4
Underlying etiology determines the outcome in atraumatic chylous ascites. 61
30181937 2018
5
Identification of lymphatic endothelium in pediatric vascular tumors and malformations. 61
15719202 2005

Variations for Lymphatic Malformation 2

Expression for Lymphatic Malformation 2

Search GEO for disease gene expression data for Lymphatic Malformation 2.

Pathways for Lymphatic Malformation 2

GO Terms for Lymphatic Malformation 2

Sources for Lymphatic Malformation 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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