LMPHM11
MCID: LYM160
MIFTS: 17

Lymphatic Malformation 11 (LMPHM11)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Lymphatic Malformation 11

MalaCards integrated aliases for Lymphatic Malformation 11:

Name: Lymphatic Malformation 11 57 73 5
Lmphm11 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in 2nd or 3rd decade of life
subclinical lymphatic defects in some affected individuals


Classifications:



External Ids:

OMIM® 57 619401
OMIM Phenotypic Series 57 PS153100
MeSH 43 D008209
SNOMED-CT via HPO 69 102572006 234097001 30213001

Summaries for Lymphatic Malformation 11

UniProtKB/Swiss-Prot: 73 A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations.

MalaCards based summary: Lymphatic Malformation 11, is also known as lmphm11. An important gene associated with Lymphatic Malformation 11 is TIE1 (Tyrosine Kinase With Immunoglobulin Like And EGF Like Domains 1). Related phenotypes are lymphedema and pedal edema

OMIM®: 57 Lymphatic malformation-11 (LMPHM11) is characterized by lower extremity edema, with onset in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations (Michelini et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). (619401) (Updated 08-Dec-2022)

Related Diseases for Lymphatic Malformation 11

Symptoms & Phenotypes for Lymphatic Malformation 11

Human phenotypes related to Lymphatic Malformation 11:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 30 Very rare (1%) HP:0001004
2 pedal edema 30 Very rare (1%) HP:0010741

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
lymphedema of lower extremities, unilateral or bilateral

Clinical features from OMIM®:

619401 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lymphatic Malformation 11

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 11

Genetic Tests for Lymphatic Malformation 11

Anatomical Context for Lymphatic Malformation 11

Publications for Lymphatic Malformation 11

Articles related to Lymphatic Malformation 11:

# Title Authors PMID Year
1
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. 57 5
32947856 2020
2
Genetic dissection of tie pathway in mouse lymphatic maturation and valve development. 57
24764452 2014

Variations for Lymphatic Malformation 11

ClinVar genetic disease variations for Lymphatic Malformation 11:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TIE1 NM_005424.5(TIE1):c.1441C>T (p.Arg481Cys) SNV Pathogenic
1174132 GRCh37: 1:43777449-43777449
GRCh38: 1:43311778-43311778
2 TIE1 NM_005424.5(TIE1):c.3326G>A (p.Arg1109His) SNV Pathogenic
1174133 GRCh37: 1:43787367-43787367
GRCh38: 1:43321696-43321696

Expression for Lymphatic Malformation 11

Search GEO for disease gene expression data for Lymphatic Malformation 11.

Pathways for Lymphatic Malformation 11

GO Terms for Lymphatic Malformation 11

Sources for Lymphatic Malformation 11

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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