Lymphatic Malformation 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
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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:

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 619369

OMIM Phenotypic Series ⁵⁷ PS153100

MeSH ⁴³ D008209

MedGen ⁴⁰ C5543531 CN296940

SNOMED-CT via HPO ⁶⁹ 234097001 26614003 30213001 more

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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)

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Related Diseases for Lymphatic Malformation 10

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

#	Related Disease	Score	Top Affiliating Genes
1	microcephaly 1, primary, autosomal recessive	9.6	MCPH1 ANGPT2
2	primary autosomal recessive microcephaly	9.5	MCPH1 ANGPT2

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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)

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Drugs & Therapeutics for Lymphatic Malformation 10

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 10

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Genetic Tests for Lymphatic Malformation 10

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Anatomical Context for Lymphatic Malformation 10

Organs/tissues related to Lymphatic Malformation 10:

MalaCards : Testis

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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	Leppanen VM...Alitalo K	32908006	2020

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Genes for Lymphatic Malformation 10

Genes related to Lymphatic Malformation 10 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ANGPT2	Angiopoietin 2	Protein Coding	1207.75	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ GeneCards inferred via : Disorders (show sections)	32908006
2	MCPH1	Microcephalin 1	Protein Coding	400	Pathogenic ⁵	32908006

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Variations for Lymphatic Malformation 10

ClinVar genetic disease variations for Lymphatic Malformation 10:

⁵

#	Gene	Name	Type	Significance	ClinVarId	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