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 ⁵⁷ ⁷²

Lymphedema, Hereditary, Iii ⁷² ²⁹ ⁶ ¹⁷

Generalized Lymphatic Dysplasia of Fotiou ⁵⁷ ⁷²

Lmphm6 ⁵⁷ ⁷²

Lymphedema, Hereditary, Iii, Formerly; Lmph3, Formerly ⁵⁷

Lymphedema, Hereditary, Iii, Formerly ⁵⁷

Lymphedema, Hereditary, 3 ⁷²

Lmph3, Formerly ⁵⁷

Lmph3 ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype

HPO:

³¹

lymphatic malformation 6:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616843

OMIM Phenotypic Series ⁵⁷ PS153100

MeSH ⁴⁴ D008209

MedGen ⁴¹ C4225184 CN235387

EFO ¹⁷ EFO_0009153

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Summaries for Lymphatic Malformation 6

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

MalaCards based summary : Lymphatic Malformation 6, also known as lymphedema, hereditary, iii, is related to piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis and immune hydrops fetalis. An important gene associated with Lymphatic Malformation 6 is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1). Affiliated tissues include testis, and related phenotypes are splenomegaly and short stature

UniProtKB/Swiss-Prot : ⁷² Lymphatic malformation 6: 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. LMPHM6 is an autosomal recessive, severe form manifesting as generalized lymphatic dysplasia. It is characterized by uniform, widespread swelling of 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 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

Diseases related to Lymphatic Malformation 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	11.5
2	immune hydrops fetalis	9.6	PIEZO1 LOC100289580
3	hereditary stomatocytosis	9.6	PIEZO1 LOC100289580
4	dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	9.5	PIEZO1 LOC100289580

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Symptoms & Phenotypes for Lymphatic Malformation 6

Human phenotypes related to Lymphatic Malformation 6:

³¹ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	splenomegaly ³¹	very rare (1%)	HP:0001744
2	short stature ³¹	very rare (1%)	HP:0004322
3	micrognathia ³¹	very rare (1%)	HP:0000347
4	epicanthus ³¹	very rare (1%)	HP:0000286
5	atrial septal defect ³¹	very rare (1%)	HP:0001631
6	cellulitis ³¹	very rare (1%)	HP:0100658
7	chylothorax ³¹	very rare (1%)	HP:0010310
8	deep venous thrombosis ³¹	very rare (1%)	HP:0002625
9	prune belly ³¹	very rare (1%)	HP:0004392
10	intestinal lymphangiectasia ³¹	very rare (1%)	HP:0002593
11	scoliosis ³¹		HP:0002650
12	hypothyroidism ³¹		HP:0000821
13	hearing impairment ³¹		HP:0000365
14	global developmental delay ³¹		HP:0001263
15	gastroesophageal reflux ³¹		HP:0002020
16	lymphedema ³¹		HP:0001004
17	ascites ³¹		HP:0001541
18	webbed neck ³¹		HP:0000465
19	pectus excavatum ³¹		HP:0000767
20	polyhydramnios ³¹		HP:0001561
21	varicose veins ³¹		HP:0002619
22	periorbital edema ³¹		HP:0100539
23	cupped ear ³¹		HP:0000378
24	facial edema ³¹		HP:0000282
25	nonimmune hydrops fetalis ³¹		HP:0001790
26	hydrocele testis ³¹		HP:0000034
27	generalized edema ³¹		HP:0007430
28	genital edema ³¹		HP:0031188

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Skeletal Spine:
scoliosis

Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
gastroesophageal reflux
intestinal lymphangiectasia

Head And Neck Face:
micrognathia
facial swelling
recurrent facial cellulitis

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
periorbital edema
epicanthic folds

Genitourinary External Genitalia Male:
genital edema
hydrocele

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

Prenatal Manifestations:
hydrops fetalis, nonimmune

Skin Nails Hair Skin:
granuloma annulare

Immunology:
normal immune profile

Endocrine Features:
hypothyroidism

Growth Height:
short stature

Abdomen External Features:
ascites
prune belly

Head And Neck Neck:
webbed neck
swelling of the neck

Cardiovascular Heart:
atrial septal defect

Cardiovascular Vascular:
varicose veins
generalized edema
deep vein thrombosis

Respiratory:
chylothorax
pleural effusions, bilateral

Genitourinary External Genitalia Female:
genital edema

Neurologic Central Nervous System:
developmental delay, mild

Chest Diaphragm:
amyoplasia of diaphragm

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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Lymphatic Malformation 6 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Weakly decreased NFAT1-GFP nuclear translocation	GR00359-A	8.32	PIEZO1

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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 ²⁹	PIEZO1

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Anatomical Context for Lymphatic Malformation 6

MalaCards organs/tissues related to Lymphatic Malformation 6:

⁴⁰

Testis

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Publications for Lymphatic Malformation 6

Articles related to Lymphatic Malformation 6:

#	Title	Authors	PMID	Year
1	Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. ⁶	Fotiou E...Ostergaard P	31028252	2019
2	Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. ⁵⁷	Fotiou E...Ostergaard P	26333996	2015
3	Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome. ⁵⁷	Mucke J...Beyreiss K	3769974	1986
4	PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells. ⁶¹	Andolfo I...Iolascon A	30930797	2019

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Genes for Lymphatic Malformation 6

Genes related to Lymphatic Malformation 6 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PIEZO1	Piezo Type Mechanosensitive Ion Channel Component 1	Protein Coding	1041.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	31028252
2	LOC100289580	Uncharacterized LOC100289580	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶	31028252

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Variations for Lymphatic Malformation 6

ClinVar genetic disease variations for Lymphatic Malformation 6:

⁶ (show all 26)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PIEZO1	NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe)	SNV	Pathogenic	223131	rs370296725	GRCh37: 16:88783580-88783580 GRCh38: 16:88717172-88717172
2	PIEZO1	NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter)	SNV	Pathogenic	223128	rs869025597	GRCh37: 16:88788693-88788693 GRCh38: 16:88722285-88722285
3	PIEZO1	NM_001142864.4(PIEZO1):c.6682C>T (p.Gln2228Ter)	SNV	Pathogenic	223129	rs869025598	GRCh37: 16:88783285-88783285 GRCh38: 16:88716877-88716877
4	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.1669+1G>A	SNV	Pathogenic	223132	rs869025600	GRCh37: 16:88801542-88801542 GRCh38: 16:88735134-88735134
5	PIEZO1	NM_001142864.4(PIEZO1):c.3796+1G>A	SNV	Pathogenic	223130	rs869025599	GRCh37: 16:88792954-88792954 GRCh38: 16:88726546-88726546
6	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter)	SNV	Pathogenic	223127	rs869025596	GRCh37: 16:88800380-88800380 GRCh38: 16:88733972-88733972
7	PIEZO1	NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu)	SNV	Pathogenic	223133	rs869025601	GRCh37: 16:88782368-88782368 GRCh38: 16:88715960-88715960
8	PIEZO1	NM_001142864.4(PIEZO1):c.6964G>T (p.Glu2322Ter)	SNV	Pathogenic	973951		GRCh37: 16:88782854-88782854 GRCh38: 16:88716446-88716446
9	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter)	SNV	Pathogenic	449461	rs934897228	GRCh37: 16:88803079-88803079 GRCh38: 16:88736671-88736671
10	PIEZO1	NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)	SNV	Pathogenic	973950		GRCh37: 16:88787052-88787052 GRCh38: 16:88720644-88720644
11	PIEZO1	NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs)	Indel	Likely pathogenic	916578		GRCh37: 16:88789685-88789699 GRCh38: 16:88723277-88723291
12	PIEZO1	NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly)	SNV	Likely pathogenic	978719		GRCh37: 16:88794069-88794069 GRCh38: 16:88727661-88727661
13	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)	SNV	Likely pathogenic	978720		GRCh37: 16:88798119-88798119 GRCh38: 16:88731711-88731711
14	PIEZO1	NM_001142864.4(PIEZO1):c.3206G>A (p.Trp1069Ter)	SNV	Likely pathogenic	599180	rs1166021430	GRCh37: 16:88794060-88794060 GRCh38: 16:88727652-88727652
15	PIEZO1	NM_001142864.4(PIEZO1):c.6208A>C (p.Lys2070Gln)	SNV	Likely pathogenic	599181	rs1567659736	GRCh37: 16:88786325-88786325 GRCh38: 16:88719917-88719917
16	PIEZO1	NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro)	SNV	Uncertain significance	638426	rs774268616	GRCh37: 16:88782026-88782026 GRCh38: 16:88715618-88715618
17	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu)	SNV	Uncertain significance	638427	rs568280615	GRCh37: 16:88798310-88798310 GRCh38: 16:88731902-88731902
18	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu)	SNV	Uncertain significance	829803	rs1471934686	GRCh37: 16:88799858-88799858 GRCh38: 16:88733450-88733450
19	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)	SNV	Uncertain significance	548456	rs769506340	GRCh37: 16:88798203-88798203 GRCh38: 16:88731795-88731795
20	PIEZO1	NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)	SNV	Uncertain significance	987920		GRCh37: 16:88788731-88788731 GRCh38: 16:88722323-88722323
21	PIEZO1	NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg)	SNV	Uncertain significance	1030204		GRCh37: 16:88851354-88851354 GRCh38: 16:88784946-88784946
22	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys)	SNV	Uncertain significance	1030205		GRCh37: 16:88800082-88800082 GRCh38: 16:88733674-88733674
23	PIEZO1	NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly)	SNV	Uncertain significance	1030206		GRCh37: 16:88787082-88787082 GRCh38: 16:88720674-88720674
24	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)	SNV	Uncertain significance	242665	rs200970763	GRCh37: 16:88800139-88800139 GRCh38: 16:88733731-88733731
25	PIEZO1	NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu)	SNV	Benign	440038	rs11645197	GRCh37: 16:88791458-88791458 GRCh38: 16:88725050-88725050
26	PIEZO1 , LOC100289580	NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala)	SNV	Benign	440043	rs7184427	GRCh37: 16:88804734-88804734 GRCh38: 16:88738326-88738326

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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 Rare Lymphatic Malformation family:

Diseases related to Lymphatic Malformation 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lymphatic Malformation 6

Human phenotypes related to Lymphatic Malformation 6:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Lymphatic Malformation 6 according to GeneCards Suite gene sharing:

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 (2 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