Lymphatic Malformation 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lymphatic Malformation 6

MalaCards integrated aliases for Lymphatic Malformation 6:

Name: Lymphatic Malformation 6 ⁵⁸

Lymphedema, Hereditary, Iii ⁷⁶ ³⁰ ⁶ ¹⁷

Generalized Lymphatic Dysplasia of Fotiou ⁵⁸ ⁷⁶

Lymphedema, Hereditary, Iii, Formerly; Lmph3, Formerly ⁵⁸

Lymphedema, Hereditary, Iii, Formerly ⁵⁸

Lymphedema, Hereditary, 3 ⁷⁶

Lmph3, Formerly ⁵⁸

Lmphm6 ⁵⁸

Lmph3 ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype

HPO:

³³

lymphatic malformation 6:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616843

MeSH ⁴⁵ D008209

MedGen ⁴³ C4225184 CN235387

SNOMED-CT via HPO ⁷⁰ 103276001 109245003 111266001 more

EFO ¹⁷ EFO_0009153

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Summaries for Lymphatic Malformation 6

OMIM : ⁵⁸ Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (616843)

MalaCards based summary : Lymphatic Malformation 6, is also known as lymphedema, hereditary, iii. An important gene associated with Lymphatic Malformation 6 is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1). Affiliated tissues include skin and testis, and related phenotypes are splenomegaly and short stature

UniProtKB/Swiss-Prot : ⁷⁶ Lymphedema, hereditary, 3: A severe form of lymphedema, a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. LMPH3 manifests as generalized lymphatic dysplasia, characterized by uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non-immune hydrops fetalis.

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Related Diseases for Lymphatic Malformation 6

Diseases in the Lymphatic Malformations family:

Lymphatic Malformation 1	Lymphatic Malformation 5
Lymphatic Malformation 2	Lymphatic Malformation 3
Lymphatic Malformation 4	Lymphatic Malformation 6
Lymphatic Malformation 7

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Symptoms & Phenotypes for Lymphatic Malformation 6

Human phenotypes related to Lymphatic Malformation 6:

³³ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	splenomegaly ³³	very rare (1%)	HP:0001744
2	short stature ³³	very rare (1%)	HP:0004322
3	micrognathia ³³	very rare (1%)	HP:0000347
4	epicanthus ³³	very rare (1%)	HP:0000286
5	atrial septal defect ³³	very rare (1%)	HP:0001631
6	cellulitis ³³	very rare (1%)	HP:0100658
7	chylothorax ³³	very rare (1%)	HP:0010310
8	deep venous thrombosis ³³	very rare (1%)	HP:0002625
9	intestinal lymphangiectasia ³³	very rare (1%)	HP:0002593
10	prune belly ³³	very rare (1%)	HP:0004392
11	pectus excavatum ³³		HP:0000767
12	hypothyroidism ³³		HP:0000821
13	scoliosis ³³		HP:0002650
14	hearing impairment ³³		HP:0000365
15	global developmental delay ³³		HP:0001263
16	gastroesophageal reflux ³³		HP:0002020
17	ascites ³³		HP:0001541
18	lymphedema ³³		HP:0001004
19	webbed neck ³³		HP:0000465
20	polyhydramnios ³³		HP:0001561
21	varicose veins ³³		HP:0002619
22	periorbital edema ³³		HP:0100539
23	cupped ear ³³		HP:0000378
24	hydrocele testis ³³		HP:0000034
25	generalized edema ³³		HP:0007430
26	facial edema ³³		HP:0000282
27	nonimmune hydrops fetalis ³³		HP:0001790
28	genital edema ³³		HP:0031188

Symptoms via clinical synopsis from OMIM:

⁵⁸

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis

Growth Height:
short stature

Abdomen External Features:
ascites
prune belly

Head And Neck Neck:
webbed neck
swelling of the neck

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
periorbital edema
epicanthic folds

Prenatal Manifestations:
nonimmune hydrops fetalis

Genitourinary External Genitalia Male:
hydrocele
genital edema

Chest Diaphragm:
amyoplasia of diaphragm

Skin Nails Hair Skin:
granuloma annulare

Immunology:
normal immune profile

Endocrine Features:
hypothyroidism

Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
gastroesophageal reflux
intestinal lymphangiectasia

Head And Neck Face:
micrognathia
facial swelling
recurrent facial cellulitis

Cardiovascular Heart:
atrial septal defect

Cardiovascular Vascular:
varicose veins
generalized edema
deep vein thrombosis

Respiratory:
chylothorax
pleural effusions, bilateral

Head And Neck Ears:
simple ears
cupped ears
deafness, bilateral sensorineural (uncommon)

Neurologic Central Nervous System:
developmental delay, mild

Genitourinary External Genitalia Female:
genital edema

Muscle Soft Tissue:
lymphedema (primarily in lower limbs, but also arms in some patients)
cellulitis in lower limbs, recurrent
deep rerouting of lymph in lower limbs seen on lymphoscintigraphy
superficial rerouting of lymph through the skin

Clinical features from OMIM:

616843

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Drugs & Therapeutics for Lymphatic Malformation 6

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 6

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Genetic Tests for Lymphatic Malformation 6

Genetic tests related to Lymphatic Malformation 6:

#	Genetic test	Affiliating Genes
1	Lymphedema, Hereditary, Iii ³⁰	PIEZO1

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Anatomical Context for Lymphatic Malformation 6

MalaCards organs/tissues related to Lymphatic Malformation 6:

⁴²

Skin, Testis

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Publications for Lymphatic Malformation 6

Articles related to Lymphatic Malformation 6:

#	Title	Authors	Year
1	Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. ( 26333996 )	Fotiou E...Ostergaard P	2015

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Genes for Lymphatic Malformation 6

Genes related to Lymphatic Malformation 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PIEZO1	Piezo Type Mechanosensitive Ion Channel Component 1	Protein Coding	1000	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰	26333996

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Variations for Lymphatic Malformation 6

ClinVar genetic disease variations for Lymphatic Malformation 6:

⁶ (show all 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PIEZO1	NM_001142864.4(PIEZO1): c.2263G> T (p.Glu755Ter)	single nucleotide variant	Pathogenic	rs869025596	GRCh37	Chromosome 16, 88800380: 88800380
2	PIEZO1	NM_001142864.4(PIEZO1): c.2263G> T (p.Glu755Ter)	single nucleotide variant	Pathogenic	rs869025596	GRCh38	Chromosome 16, 88733972: 88733972
3	PIEZO1	NM_001142864.4(PIEZO1): c.4888G> T (p.Glu1630Ter)	single nucleotide variant	Pathogenic	rs869025597	GRCh37	Chromosome 16, 88788693: 88788693
4	PIEZO1	NM_001142864.4(PIEZO1): c.4888G> T (p.Glu1630Ter)	single nucleotide variant	Pathogenic	rs869025597	GRCh38	Chromosome 16, 88722285: 88722285
5	PIEZO1	NM_001142864.4(PIEZO1): c.6682C> T (p.Gln2228Ter)	single nucleotide variant	Pathogenic	rs869025598	GRCh37	Chromosome 16, 88783285: 88783285
6	PIEZO1	NM_001142864.4(PIEZO1): c.6682C> T (p.Gln2228Ter)	single nucleotide variant	Pathogenic	rs869025598	GRCh38	Chromosome 16, 88716877: 88716877
7	PIEZO1	NM_001142864.3(PIEZO1): c.3700_3796del97	single nucleotide variant	Pathogenic	rs869025599	GRCh38	Chromosome 16, 88726546: 88726546
8	PIEZO1	NM_001142864.3(PIEZO1): c.3700_3796del97	single nucleotide variant	Pathogenic	rs869025599	GRCh37	Chromosome 16, 88792954: 88792954
9	PIEZO1	NM_001142864.4(PIEZO1): c.6511G> T (p.Val2171Phe)	single nucleotide variant	Pathogenic	rs370296725	GRCh37	Chromosome 16, 88783580: 88783580
10	PIEZO1	NM_001142864.4(PIEZO1): c.6511G> T (p.Val2171Phe)	single nucleotide variant	Pathogenic	rs370296725	GRCh38	Chromosome 16, 88717172: 88717172
11	PIEZO1	NM_001142864.3(PIEZO1): c.1669+1G> A	single nucleotide variant	Pathogenic	rs869025600	GRCh37	Chromosome 16, 88801542: 88801542
12	PIEZO1	NM_001142864.3(PIEZO1): c.1669+1G> A	single nucleotide variant	Pathogenic	rs869025600	GRCh38	Chromosome 16, 88735134: 88735134
13	PIEZO1	NM_001142864.4(PIEZO1): c.7289C> T (p.Pro2430Leu)	single nucleotide variant	Pathogenic	rs869025601	GRCh37	Chromosome 16, 88782368: 88782368
14	PIEZO1	NM_001142864.4(PIEZO1): c.7289C> T (p.Pro2430Leu)	single nucleotide variant	Pathogenic	rs869025601	GRCh38	Chromosome 16, 88715960: 88715960
15	PIEZO1	NM_001142864.4(PIEZO1): c.3107G> A (p.Arg1036His)	single nucleotide variant	Uncertain significance	rs769506340	GRCh38	Chromosome 16, 88731795: 88731795
16	PIEZO1	NM_001142864.4(PIEZO1): c.3107G> A (p.Arg1036His)	single nucleotide variant	Uncertain significance	rs769506340	GRCh37	Chromosome 16, 88798203: 88798203
17	PIEZO1	NM_001142864.4(PIEZO1): c.6208A> C (p.Lys2070Gln)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 16, 88786325: 88786325
18	PIEZO1	NM_001142864.4(PIEZO1): c.6208A> C (p.Lys2070Gln)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 16, 88719917: 88719917
19	PIEZO1	NM_001142864.4(PIEZO1): c.3206G> A (p.Trp1069Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 16, 88794060: 88794060
20	PIEZO1	NM_001142864.4(PIEZO1): c.3206G> A (p.Trp1069Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 16, 88727652: 88727652

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Expression for Lymphatic Malformation 6

Search GEO for disease gene expression data for Lymphatic Malformation 6.

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Pathways for Lymphatic Malformation 6

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GO Terms for Lymphatic Malformation 6

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Sources for Lymphatic Malformation 6

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Lymphatic Malformation 6 (LMPHM6)

Aliases & Classifications for Lymphatic Malformation 6

MalaCards integrated aliases for Lymphatic Malformation 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lymphatic Malformation 6

Related Diseases for Lymphatic Malformation 6

Diseases in the Lymphatic Malformations family:

Symptoms & Phenotypes for Lymphatic Malformation 6

Human phenotypes related to Lymphatic Malformation 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lymphatic Malformation 6

Genetic Tests for Lymphatic Malformation 6

Genetic tests related to Lymphatic Malformation 6:

Anatomical Context for Lymphatic Malformation 6

MalaCards organs/tissues related to Lymphatic Malformation 6:

Publications for Lymphatic Malformation 6

Articles related to Lymphatic Malformation 6:

Genes for Lymphatic Malformation 6

Genes related to Lymphatic Malformation 6 (1 elite genes):

Variations for Lymphatic Malformation 6

ClinVar genetic disease variations for Lymphatic Malformation 6:

Expression for Lymphatic Malformation 6

Pathways for Lymphatic Malformation 6

GO Terms for Lymphatic Malformation 6

Sources for Lymphatic Malformation 6