LMPHM9
MCID: LYM158
MIFTS: 19

Lymphatic Malformation 9 (LMPHM9)

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 9

MalaCards integrated aliases for Lymphatic Malformation 9:

Name: Lymphatic Malformation 9 57 73 5
Lmphm9 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity
incomplete penetrance
onset in first decade
women mutation carriers are more likely to be affected than men


Classifications:



External Ids:

OMIM® 57 619319
OMIM Phenotypic Series 57 PS153100
MeSH 43 D008209

Summaries for Lymphatic Malformation 9

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. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal dominant form with variable expressivity and incomplete penetrance, characterized by the onset of lower-extremity lymphedema in the first decades of life.

MalaCards based summary: Lymphatic Malformation 9, is also known as lmphm9. An important gene associated with Lymphatic Malformation 9 is CELSR1 (Cadherin EGF LAG Seven-Pass G-Type Receptor 1). Related phenotypes are predominantly lower limb lymphedema and tortuous lymphatic vessels

OMIM®: 57 Lymphatic malformation-9 (LMPHM9) is an autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Imaging may show lymph backflow and defects in lymph channel valves. There is variable expressivity and incomplete penetrance; female mutation carriers are more likely to show disease manifestations than male carriers (summary by Erickson et al., 2019). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (619319) (Updated 08-Dec-2022)

Related Diseases for Lymphatic Malformation 9

Symptoms & Phenotypes for Lymphatic Malformation 9

Human phenotypes related to Lymphatic Malformation 9:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 predominantly lower limb lymphedema 30 Very rare (1%) HP:0003550
2 tortuous lymphatic vessels 30 Very rare (1%) HP:0033986

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Vascular:
lymphangiectasia
lymphedema, lower limbs
tortuous lymphatics
lymph vessel valve dysfunction
lymph backflow
more
Muscle Soft Tissue:
lymphedema, primarily of the lower limbs

Clinical features from OMIM®:

619319 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lymphatic Malformation 9

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 9

Genetic Tests for Lymphatic Malformation 9

Anatomical Context for Lymphatic Malformation 9

Publications for Lymphatic Malformation 9

Articles related to Lymphatic Malformation 9:

# Title Authors PMID Year
1
Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family. 57 5
31403174 2019
2
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. 57 5
31215153 2019
3
A novel mutation in CELSR1 is associated with hereditary lymphedema. 57 5
26855770 2016

Variations for Lymphatic Malformation 9

ClinVar genetic disease variations for Lymphatic Malformation 9:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CELSR1 NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter) SNV Pathogenic
1096924 GRCh37: 22:46790132-46790132
GRCh38: 22:46394235-46394235
2 CELSR1 NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs) DUP Pathogenic
1096930 GRCh37: 22:46804997-46804998
GRCh38: 22:46409100-46409101
3 CELSR1 NM_001378328.1(CELSR1):c.5226+2T>A SNV Pathogenic
598932 rs1569141899 GRCh37: 22:46804891-46804891
GRCh38: 22:46408994-46408994
4 CELSR1 NM_001378328.1(CELSR1):c.6739+1G>A SNV Pathogenic
598933 rs1569124017 GRCh37: 22:46782298-46782298
GRCh38: 22:46386401-46386401
5 CELSR1 NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) SNV Pathogenic
590904 rs1569227576 GRCh37: 22:46932200-46932200
GRCh38: 22:46536303-46536303
6 CELSR1 NM_001378328.1(CELSR1):c.7640C>T (p.Ala2547Val) SNV Uncertain Significance
1341349 GRCh37: 22:46768899-46768899
GRCh38: 22:46373002-46373002

Expression for Lymphatic Malformation 9

Search GEO for disease gene expression data for Lymphatic Malformation 9.

Pathways for Lymphatic Malformation 9

GO Terms for Lymphatic Malformation 9

Sources for Lymphatic Malformation 9

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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