MCID: LYM059
MIFTS: 14

Lymphedema, Hereditary, Ib

Categories: Immune diseases, Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Muscle diseases, Oral diseases, Cardiovascular diseases

Aliases & Classifications for Lymphedema, Hereditary, Ib

MalaCards integrated aliases for Lymphedema, Hereditary, Ib:

Name: Lymphedema, Hereditary, Ib 57 13 73
Lmph1b 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
lymphedema, hereditary, ib:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 611944
MedGen 42 C2677787
SNOMED-CT via HPO 69 263681008 234097001 30213001
UMLS 73 C2677787

Summaries for Lymphedema, Hereditary, Ib

OMIM : 57 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). (611944)

MalaCards based summary : Lymphedema, Hereditary, Ib, is also known as lmph1b. An important gene associated with Lymphedema, Hereditary, Ib is LMPH1B (Lymphedema, Hereditary, IB). Affiliated tissues include skin, and related phenotype is lymphedema.

Related Diseases for Lymphedema, Hereditary, Ib

Symptoms & Phenotypes for Lymphedema, Hereditary, Ib

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lymphedema, Hereditary, Ib:

32
# Description HPO Frequency HPO Source Accession
1 lymphedema 32 HP:0001004

Drugs & Therapeutics for Lymphedema, Hereditary, Ib

Search Clinical Trials , NIH Clinical Center for Lymphedema, Hereditary, Ib

Genetic Tests for Lymphedema, Hereditary, Ib

Anatomical Context for Lymphedema, Hereditary, Ib

MalaCards organs/tissues related to Lymphedema, Hereditary, Ib:

41
Skin

Publications for Lymphedema, Hereditary, Ib

Variations for Lymphedema, Hereditary, Ib

Expression for Lymphedema, Hereditary, Ib

Search GEO for disease gene expression data for Lymphedema, Hereditary, Ib.

Pathways for Lymphedema, Hereditary, Ib

GO Terms for Lymphedema, Hereditary, Ib

Sources for Lymphedema, Hereditary, Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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