LMPHM6
MCID: LYM149
MIFTS: 25

Lymphatic Malformation 6 (LMPHM6)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases

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:



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.

Related Diseases for Lymphatic Malformation 6

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

Drugs & Therapeutics for Lymphatic Malformation 6

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 6

Genetic Tests for Lymphatic Malformation 6

Genetic tests related to Lymphatic Malformation 6:

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

Anatomical Context for Lymphatic Malformation 6

MalaCards organs/tissues related to Lymphatic Malformation 6:

42
Skin, Testis

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 )
2015

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

Expression for Lymphatic Malformation 6

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

Pathways for Lymphatic Malformation 6

GO Terms for Lymphatic Malformation 6

Sources for Lymphatic Malformation 6

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