Hereditary Lymphedema Id disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRD203 MIFTS: 13	Hereditary Lymphedema Id Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Expand all tables

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Aliases & Classifications for Hereditary Lymphedema Id

MalaCards integrated aliases for Hereditary Lymphedema Id:

Name: Hereditary Lymphedema Id ¹¹

Lymphedema, Hereditary, Id ⁵ ⁷¹

Lmph1d ¹¹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Immune diseases Neuronal diseases Cardiovascular diseases Skin diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0070209

UMLS ⁷¹ C4014628

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Summaries for Hereditary Lymphedema Id

Disease Ontology: ¹¹ A hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the VEGFC gene on chromosome 4q34.

MalaCards based summary: Hereditary Lymphedema Id, also known as lymphedema, hereditary, id, is related to lymphatic malformation 4. An important gene associated with Hereditary Lymphedema Id is VEGFC (Vascular Endothelial Growth Factor C). Affiliated tissues include endothelial.

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Related Diseases for Hereditary Lymphedema Id

Diseases in the Primary Lymphedema family:

Hereditary Lymphedema	Hereditary Lymphedema Ic
Hereditary Lymphedema Id	Hereditary Lymphedema Ia
Hereditary Lymphedema Ib	Hereditary Lymphedema I
Hereditary Lymphedema Ii	Congenital Lymphedema
Celsr1-Related Late-Onset Primary Lymphedema	Gjc2-Related Late-Onset Primary Lymphedema

Diseases related to Hereditary Lymphedema Id via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lymphatic malformation 4	11.3

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Symptoms & Phenotypes for Hereditary Lymphedema Id

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Drugs & Therapeutics for Hereditary Lymphedema Id

Search Clinical Trials, NIH Clinical Center for Hereditary Lymphedema Id

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Genetic Tests for Hereditary Lymphedema Id

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Anatomical Context for Hereditary Lymphedema Id

Organs/tissues related to Hereditary Lymphedema Id:

MalaCards : Endothelial

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Publications for Hereditary Lymphedema Id

Articles related to Hereditary Lymphedema Id:

#	Title	Authors	PMID	Year
1	A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 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. ⁵	Gordon K...Ostergaard P	23410910	2013

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Genes for Hereditary Lymphedema Id

Genes related to Hereditary Lymphedema Id (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	400	Pathogenic ⁵	23410910 24744435

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Variations for Hereditary Lymphedema Id

ClinVar genetic disease variations for Hereditary Lymphedema Id:

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#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	VEGFC	NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter)	SNV	Pathogenic	140737	rs587777567	GRCh37: 4:177632729-177632729 GRCh38: 4:176711575-176711575
2	VEGFC	NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs)	INSERT	Pathogenic	140736	rs587777566	GRCh37: 4:177632785-177632786 GRCh38: 4:176711631-176711632
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