MCID: LYM128
MIFTS: 24

Lymphedema, Hereditary, Iii

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

Aliases & Classifications for Lymphedema, Hereditary, Iii

MalaCards integrated aliases for Lymphedema, Hereditary, Iii:

Name: Lymphedema, Hereditary, Iii 53 71 28
Generalized Lymphatic Dysplasia of Fotiou 53 71
Lmph3 53 71
Lymphedema, Hereditary, 3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
lymphedema, hereditary, iii:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lymphedema, Hereditary, Iii

OMIM : 53 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, and has symptoms including periorbital edema, pectus excavatum and hypothyroidism. An important gene associated with Lymphedema, Hereditary, Iii is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1). Affiliated tissues include skin and testis.

UniProtKB/Swiss-Prot : 71 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:

53
Head And Neck Eyes:
periorbital edema
epicanthic folds

Endocrine Features:
hypothyroidism

Abdomen Spleen:
splenomegaly

Abdomen Gastroin testinal:
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

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

Chest RibsSternum 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

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:

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

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 28 PIEZO1

Anatomical Context for Lymphedema, Hereditary, Iii

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

38
Skin, Testis

Publications for Lymphedema, Hereditary, Iii

Variations for Lymphedema, Hereditary, Iii

ClinVar genetic disease variations for Lymphedema, Hereditary, Iii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIEZO1 NM_001142864.3(PIEZO1): c.1669+1G> A single nucleotide variant Pathogenic rs869025600 GRCh37 Chromosome 16, 88801542: 88801542
2 PIEZO1 NM_001142864.3(PIEZO1): c.2263G> T (p.Glu755Ter) single nucleotide variant Pathogenic rs869025596 GRCh37 Chromosome 16, 88800380: 88800380
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.6682C> T (p.Gln2228Ter) single nucleotide variant Pathogenic rs869025598 GRCh37 Chromosome 16, 88783285: 88783285
5 PIEZO1 NM_001142864.3(PIEZO1): c.3700_3796del97 single nucleotide variant Pathogenic rs869025599 GRCh38 Chromosome 16, 88726546: 88726546
6 PIEZO1 NM_001142864.3(PIEZO1): c.6511G> T (p.Val2171Phe) single nucleotide variant Pathogenic rs370296725 GRCh37 Chromosome 16, 88783580: 88783580
7 PIEZO1 NM_001142864.3(PIEZO1): c.7289C> T (p.Pro2430Leu) single nucleotide variant Pathogenic rs869025601 GRCh37 Chromosome 16, 88782368: 88782368

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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