MCID: LYM128
MIFTS: 26

Lymphedema, Hereditary, Iii

Categories: Genetic diseases, Immune diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Muscle diseases, Oral diseases, Cardiovascular diseases

Aliases & Classifications for Lymphedema, Hereditary, Iii

MalaCards integrated aliases for Lymphedema, Hereditary, Iii:

Name: Lymphedema, Hereditary, Iii 57 75 29 6
Generalized Lymphatic Dysplasia of Fotiou 57 75
Lmph3 57 75
Lymphedema, Hereditary, 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
lymphedema, hereditary, iii:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lymphedema, Hereditary, Iii

OMIM : 57 Hereditary lymphedema III 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 LMPH3, 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. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). (616843)

MalaCards based summary : Lymphedema, Hereditary, Iii, is also known as generalized lymphatic dysplasia of fotiou. An important gene associated with Lymphedema, Hereditary, Iii is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1). Affiliated tissues include testis and skin, and related phenotypes are hydrocele testis and facial edema

UniProtKB/Swiss-Prot : 75 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 Lymphedema, Hereditary, Iii

Symptoms & Phenotypes for Lymphedema, Hereditary, Iii

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

Human phenotypes related to Lymphedema, Hereditary, Iii:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hydrocele testis 32 HP:0000034
2 facial edema 32 HP:0000282
3 epicanthus 32 very rare (1%) HP:0000286
4 micrognathia 32 very rare (1%) HP:0000347
5 hearing impairment 32 HP:0000365
6 cupped ear 32 HP:0000378
7 webbed neck 32 HP:0000465
8 pectus excavatum 32 HP:0000767
9 hypothyroidism 32 HP:0000821
10 lymphedema 32 HP:0001004
11 global developmental delay 32 HP:0001263
12 ascites 32 HP:0001541
13 polyhydramnios 32 HP:0001561
14 atrial septal defect 32 very rare (1%) HP:0001631
15 splenomegaly 32 very rare (1%) HP:0001744
16 nonimmune hydrops fetalis 32 HP:0001790
17 gastroesophageal reflux 32 HP:0002020
18 intestinal lymphangiectasia 32 very rare (1%) HP:0002593
19 varicose veins 32 HP:0002619
20 deep venous thrombosis 32 very rare (1%) HP:0002625
21 scoliosis 32 HP:0002650
22 short stature 32 very rare (1%) HP:0004322
23 prune belly 32 very rare (1%) HP:0004392
24 generalized edema 32 HP:0007430
25 chylothorax 32 very rare (1%) HP:0010310
26 genital edema 32 HP:0031188
27 periorbital edema 32 HP:0100539
28 cellulitis 32 very rare (1%) HP:0100658

GenomeRNAi Phenotypes related to Lymphedema, Hereditary, Iii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Moderately decreased NFAT1-GFP nuclear translocation GR00359-A 8.62 LOC100289580 PIEZO1

Drugs & Therapeutics for Lymphedema, Hereditary, Iii

Search Clinical Trials , NIH Clinical Center for Lymphedema, Hereditary, Iii

Genetic Tests for Lymphedema, Hereditary, Iii

Genetic tests related to Lymphedema, Hereditary, Iii:

# Genetic test Affiliating Genes
1 Lymphedema, Hereditary, Iii 29 PIEZO1

Anatomical Context for Lymphedema, Hereditary, Iii

MalaCards organs/tissues related to Lymphedema, Hereditary, Iii:

41
Testis, Skin

Publications for Lymphedema, Hereditary, Iii

Variations for Lymphedema, Hereditary, Iii

ClinVar genetic disease variations for Lymphedema, Hereditary, Iii:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIEZO1 NM_001142864.3(PIEZO1): c.2263G> T (p.Glu755Ter) single nucleotide variant Pathogenic rs869025596 GRCh37 Chromosome 16, 88800380: 88800380
2 PIEZO1 NM_001142864.3(PIEZO1): c.2263G> T (p.Glu755Ter) single nucleotide variant Pathogenic rs869025596 GRCh38 Chromosome 16, 88733972: 88733972
3 PIEZO1 NM_001142864.3(PIEZO1): c.4888G> T (p.Glu1630Ter) single nucleotide variant Pathogenic rs869025597 GRCh37 Chromosome 16, 88788693: 88788693
4 PIEZO1 NM_001142864.3(PIEZO1): c.4888G> T (p.Glu1630Ter) single nucleotide variant Pathogenic rs869025597 GRCh38 Chromosome 16, 88722285: 88722285
5 PIEZO1 NM_001142864.3(PIEZO1): c.6682C> T (p.Gln2228Ter) single nucleotide variant Pathogenic rs869025598 GRCh37 Chromosome 16, 88783285: 88783285
6 PIEZO1 NM_001142864.3(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_001142864.3(PIEZO1): c.6511G> T (p.Val2171Phe) single nucleotide variant Pathogenic rs370296725 GRCh37 Chromosome 16, 88783580: 88783580
10 PIEZO1 NM_001142864.3(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_001142864.3(PIEZO1): c.7289C> T (p.Pro2430Leu) single nucleotide variant Pathogenic rs869025601 GRCh37 Chromosome 16, 88782368: 88782368
14 PIEZO1 NM_001142864.3(PIEZO1): c.7289C> T (p.Pro2430Leu) single nucleotide variant Pathogenic rs869025601 GRCh38 Chromosome 16, 88715960: 88715960

Expression for Lymphedema, Hereditary, Iii

Search GEO for disease gene expression data for Lymphedema, Hereditary, Iii.

Pathways for Lymphedema, Hereditary, Iii

GO Terms for Lymphedema, Hereditary, Iii

Sources for Lymphedema, Hereditary, Iii

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