Lymphatic Malformation 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LMPHM4 MCID: LYM148 MIFTS: 24	Lymphatic Malformation 4 (LMPHM4) 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	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Lymphatic Malformation 4

MalaCards integrated aliases for Lymphatic Malformation 4:

Name: Lymphatic Malformation 4 ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸

Lmphm4 ⁵⁷ ⁷³

Lymphedema, Hereditary, Id, Formerly ⁵⁷

Lymphedema, Hereditary, 1d ⁷³

Hereditary Lymphedema Id ⁷³

Lmph1d, Formerly ⁵⁷

Lmph1d ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable severity
onset at birth or in early childhood
two unrelated families have been reported (last curated july 2014)

HPO:

³⁰

lymphatic malformation 4:
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases
Anatomical: Immune diseases Cardiovascular diseases Reproductive diseases Skin diseases Neuronal diseases Gastrointestinal diseases Respiratory diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615907

OMIM Phenotypic Series ⁵⁷ PS153100

MeSH ⁴³ D008209

MedGen ⁴⁰ C4747769 CN197013

SNOMED-CT via HPO ⁶⁹ 128045006 128936008 234097001 more

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Summaries for Lymphatic Malformation 4

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. LMPHM4 is an autosomal dominant form with onset at birth or in early childhood. Affected individuals manifest lymphedema of lower limbs with prominent veins, and impaired lymphatic uptake and drainage. Additional features are nail dysplasia, skin hyperkeratosis and papillomatosis.

MalaCards based summary: Lymphatic Malformation 4, also known as lmphm4, is related to hereditary lymphedema id. An important gene associated with Lymphatic Malformation 4 is VEGFC (Vascular Endothelial Growth Factor C). Affiliated tissues include skin, testis and endothelial, and related phenotypes are hyperkeratosis and lymphedema

More information from OMIM: 615907 PS153100

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Related Diseases for Lymphatic Malformation 4

Diseases in the Rare Lymphatic Malformation family:

Lymphatic Malformation 1	Lymphatic Malformation 5
Lymphatic Malformation 2	Lymphatic Malformation 3
Lymphatic Malformation 4	Lymphatic Malformation 6
Lymphatic Malformation 7	Lymphatic Malformation 8
Lymphatic Malformation 9	Lymphatic Malformation 10
Lymphatic Malformation 11	Lymphatic Malformation 12

Diseases related to Lymphatic Malformation 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hereditary lymphedema id	11.3

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Symptoms & Phenotypes for Lymphatic Malformation 4

Human phenotypes related to Lymphatic Malformation 4:

³⁰

#	Description	HPO Source Accession
1	hyperkeratosis ³⁰	HP:0000962
2	lymphedema ³⁰	HP:0001004
3	cellulitis ³⁰	HP:0100658
4	toenail dysplasia ³⁰	HP:0100797
5	hydrocele testis ³⁰	HP:0000034

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Genitourinary External Genitalia Male:
hydrocele

Skin Nails Hair Skin:
hyperkeratosis over affected area
papillomatosis over affected area
fibrosis over affected area
cellulitis over affected area
deep skin creases in toes

Skin Nails Hair Nails:
dysplastic toenails
upslanting toenails

Muscle Soft Tissue:
lymphedema, lower limb
prominent veins, lower limbs
lymphoscintigraphy shows impaired lymphatic uptake and drainage
tortuous lymphatic tracts
evidence of lymphatic rerouting

Clinical features from OMIM®:

615907 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Lymphatic Malformation 4

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 4

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Genetic Tests for Lymphatic Malformation 4

Genetic tests related to Lymphatic Malformation 4:

#	Genetic test	Affiliating Genes
1	Lymphatic Malformation 4 ²⁸	VEGFC

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Anatomical Context for Lymphatic Malformation 4

Organs/tissues related to Lymphatic Malformation 4:

MalaCards : Skin, Testis, Endothelial

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Publications for Lymphatic Malformation 4

Articles related to Lymphatic Malformation 4:

#	Title	Authors	PMID	Year
1	A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. ⁵⁷ ⁵	Balboa-Beltran E...Barros F	24744435	2014
2	Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. ⁵⁷ ⁵	Gordon K...Ostergaard P	23410910	2013

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Genes for Lymphatic Malformation 4

Genes related to Lymphatic Malformation 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	1007.72	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	23410910 24744435

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Variations for Lymphatic Malformation 4

ClinVar genetic disease variations for Lymphatic Malformation 4:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	VEGFC	NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs)	INSERT	Pathogenic	140736	rs587777566	GRCh37: 4:177632785-177632786 GRCh38: 4:176711631-176711632
2	VEGFC	NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter)	SNV	Pathogenic	140737	rs587777567	GRCh37: 4:177632729-177632729 GRCh38: 4:176711575-176711575
3	VEGFC	NM_005429.5(VEGFC):c.364A>G (p.Ile122Val)	SNV	Benign	993883	rs202135883	GRCh37: 4:177649120-177649120 GRCh38: 4:176727966-176727966
4	VEGFC	NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln)	SNV	Benign	994064	rs41278571	GRCh37: 4:177650866-177650866 GRCh38: 4:176729712-176729712
5	VEGFC	NM_005429.5(VEGFC):c.140A>T (p.Glu47Val)	SNV	Benign	1330598		GRCh37: 4:177713326-177713326 GRCh38: 4:176792172-176792172