Lymphatic Malformation 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LMPHM3 MCID: LYM147 MIFTS: 24	Lymphatic Malformation 3 (LMPHM3) 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 3

MalaCards integrated aliases for Lymphatic Malformation 3:

Name: Lymphatic Malformation 3 ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸

Lmphm3 ⁵⁷ ⁷³

Lymphedema, Hereditary, Ic, Formerly ⁵⁷

Lymphedema Hereditary Type Ic ⁷³

Lymphedema, Hereditary, 1c ⁷³

Lmph1c, Formerly ⁵⁷

Lmph1c ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
reduced penetrance
onset in first or second decades
females tend to have earlier onset

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 613480

OMIM Phenotypic Series ⁵⁷ PS153100

MeSH ⁴³ D008209

MedGen ⁴⁰ C3150732 C4747646

SNOMED-CT via HPO ⁶⁹ 128045006 128936008 234097001 more

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Summaries for Lymphatic Malformation 3

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). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (613480) (Updated 08-Dec-2022)

MalaCards based summary: Lymphatic Malformation 3, also known as lmphm3, is related to hereditary lymphedema ic. An important gene associated with Lymphatic Malformation 3 is GJC2 (Gap Junction Protein Gamma 2). Affiliated tissues include skin and endothelial, and related phenotypes are lymphedema and cellulitis

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. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands.

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Related Diseases for Lymphatic Malformation 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hereditary lymphedema ic	11.0

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Symptoms & Phenotypes for Lymphatic Malformation 3

Human phenotypes related to Lymphatic Malformation 3:

³⁰

#	Description	HPO Source Accession
1	lymphedema ³⁰	HP:0001004
2	cellulitis ³⁰	HP:0100658
3	recurrent skin infections ³⁰	HP:0001581

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin Nails Hair Skin:
cellulitis
recurrent skin infections

Muscle Soft Tissue:
lymphedema of the lower limbs
lymphedema of the hands (in some patients)

Clinical features from OMIM®:

613480 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Lymphatic Malformation 3

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 3

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Genetic Tests for Lymphatic Malformation 3

Genetic tests related to Lymphatic Malformation 3:

#	Genetic test	Affiliating Genes
1	Lymphatic Malformation 3 ²⁸	GJC2

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Anatomical Context for Lymphatic Malformation 3

Organs/tissues related to Lymphatic Malformation 3:

MalaCards : Skin, Endothelial

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Publications for Lymphatic Malformation 3

Articles related to Lymphatic Malformation 3:

#	Title	Authors	PMID	Year
1	Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. ⁵⁷ ⁵	Ostergaard P...Jeffery S	21266381	2011
2	GJC2 missense mutations cause human lymphedema. ⁵⁷ ⁵	Ferrell RE...Finegold DN	20537300	2010
3	A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. ⁵⁷	Balboa-Beltran E...Barros F	24744435	2014
4	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	Gordon K...Ostergaard P	23410910	2013
5	Laparoscopic management of benign splenic tumors in children. ⁶²	Qingjiang C...Gao Z	36474737	2022

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Genes for Lymphatic Malformation 3

Genes related to Lymphatic Malformation 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GJC2	Gap Junction Protein Gamma 2	Protein Coding	1307.68	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	20537300 21266381

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Variations for Lymphatic Malformation 3

ClinVar genetic disease variations for Lymphatic Malformation 3:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GJC2	NM_020435.4(GJC2):c.778C>T (p.Arg260Cys)	SNV	Pathogenic	2080	rs267606846	GRCh37: 1:228346237-228346237 GRCh38: 1:228158536-228158536
2	GJC2	NM_020435.4(GJC2):c.143C>T (p.Ser48Leu)	SNV	Pathogenic	2079	rs267606847	GRCh37: 1:228345602-228345602 GRCh38: 1:228157901-228157901
3	GJC2	NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	SNV	Uncertain Significance	445910	rs200334298	GRCh37: 1:228346693-228346693 GRCh38: 1:228158992-228158992
4	GJC2	NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu)	SNV	Uncertain Significance	872626	rs761261049	GRCh37: 1:228346658-228346658 GRCh38: 1:228158957-228158957
5	GJC2	NM_020435.4(GJC2):c.148G>A (p.Glu50Lys)	SNV	Uncertain Significance	1697235		GRCh37: 1:228345607-228345607 GRCh38: 1:228157906-228157906
6	GJC2	NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)	DEL	Not Provided	943603	rs779077705	GRCh37: 1:228345879-228345905 GRCh38: 1:228158178-228158204