LMPHM10
MCID: LYM159
MIFTS: 21

Lymphatic Malformation 10 (LMPHM10)

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 10

MalaCards integrated aliases for Lymphatic Malformation 10:

Name: Lymphatic Malformation 10 57 73 5
Lmphm10 57 73
Lymphatic Malformation, Type 10 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance in some families
onset at birth or within the first year of life


Classifications:



External Ids:

OMIM® 57 619369
OMIM Phenotypic Series 57 PS153100
MeSH 43 D008209

Summaries for Lymphatic Malformation 10

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. LMPHM10 is an autosomal dominant form characterized by the onset of swelling in the lower extremities within the first year of life. Lymphedema may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis. Incomplete penetrance has been observed in some families.

MalaCards based summary: Lymphatic Malformation 10, also known as lmphm10, is related to microcephaly 1, primary, autosomal recessive and primary autosomal recessive microcephaly. An important gene associated with Lymphatic Malformation 10 is ANGPT2 (Angiopoietin 2). Affiliated tissues include testis, and related phenotypes are lymphedema and hydrocele testis

OMIM®: 57 Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis (Leppanen et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (619369) (Updated 08-Dec-2022)

Related Diseases for Lymphatic Malformation 10

Symptoms & Phenotypes for Lymphatic Malformation 10

Human phenotypes related to Lymphatic Malformation 10:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 30 Very rare (1%) HP:0001004
2 hydrocele testis 30 Very rare (1%) HP:0000034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary External Genitalia Male:
hydrocele
edematous swelling of penis

Genitourinary External Genitalia Female:
edematous swelling of labia majora

Head And Neck Neck:
lymphedema of neck

Muscle Soft Tissue:
lymphedema (primarily of lower extremities and scrotum or labia majora but may also occur in upper extremities and/or neck)
cellulitis (in some patients)

Clinical features from OMIM®:

619369 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lymphatic Malformation 10

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 10

Genetic Tests for Lymphatic Malformation 10

Anatomical Context for Lymphatic Malformation 10

Organs/tissues related to Lymphatic Malformation 10:

MalaCards : Testis

Publications for Lymphatic Malformation 10

Articles related to Lymphatic Malformation 10:

# Title Authors PMID Year
1
Characterization of ANGPT2 mutations associated with primary lymphedema. 57 5
32908006 2020

Variations for Lymphatic Malformation 10

ClinVar genetic disease variations for Lymphatic Malformation 10:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANGPT2 ANGPT2, DEL DEL Pathogenic
1141560 GRCh37:
GRCh38:
2 ANGPT2, MCPH1 NM_001118887.2(ANGPT2):c.893C>T (p.Thr298Met) SNV Pathogenic
1141561 GRCh37: 8:6377419-6377419
GRCh38: 8:6519898-6519898
3 ANGPT2, MCPH1 NM_001118887.2(ANGPT2):c.1301G>C (p.Cys434Ser) SNV Pathogenic
1141562 GRCh37: 8:6366479-6366479
GRCh38: 8:6508958-6508958

UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 10:

73
# Symbol AA change Variation ID SNP ID
1 ANGPT2 p.Cys435Ser VAR_085863

Expression for Lymphatic Malformation 10

Search GEO for disease gene expression data for Lymphatic Malformation 10.

Pathways for Lymphatic Malformation 10

GO Terms for Lymphatic Malformation 10

Sources for Lymphatic Malformation 10

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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