LMPHM2
MCID: LYM146
MIFTS: 15

Lymphatic Malformation 2 (LMPHM2)

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

Aliases & Classifications for Lymphatic Malformation 2

MalaCards integrated aliases for Lymphatic Malformation 2:

Name: Lymphatic Malformation 2 58
Lymphedema, Hereditary, Ib, Formerly; Lmph1b, Formerly 58
Lymphedema, Hereditary, Ib, Formerly 58
Lmph1b, Formerly 58
Lmphm2 58

Characteristics:

OMIM:

58
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:

33
lymphatic malformation 2:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 611944
MedGen 43 C2677787
SNOMED-CT via HPO 70 234097001 263681008 30213001

Summaries for Lymphatic Malformation 2

OMIM : 58 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 related phenotype is lymphedema.

Related Diseases for Lymphatic Malformation 2

Symptoms & Phenotypes for Lymphatic Malformation 2

Human phenotypes related to Lymphatic Malformation 2:

33
# Description HPO Frequency HPO Source Accession
1 lymphedema 33 HP:0001004

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Lymphatic Malformation 2

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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