MCID: LYM128
MIFTS: 21

Lymphedema, Hereditary, Iii

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Lymphedema, Hereditary, Iii

MalaCards integrated aliases for Lymphedema, Hereditary, Iii:

Name: Lymphedema, Hereditary, Iii 54 71 29
Generalized Lymphatic Dysplasia of Fotiou 71
Lymphedema, Hereditary, 3 71
Lmph3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
lymphedema, hereditary, iii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lymphedema, Hereditary, Iii

OMIM : 54
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 short stature, splenomegaly and micrognathia. An important gene associated with Lymphedema, Hereditary, Iii is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1). Affiliated tissues include skin.

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:

54

Growth- Height:
short stature

Abdomen- Spleen:
splenomegaly

Cardiovascular- Heart:
atrial septal defect

Abdomen- Gastroin testinal:
gastroesophageal reflux
intestinal lymphangiectasia

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Endocrine Features:
hypothyroidism

Abdomen- External Features:
ascites
prune belly

Genitourinary- External Genitalia Male:
hydrocele
genital edema

Prenatal Manifestations:
nonimmune hydrops fetalis

Chest- Diaphragm:
amyoplasia of diaphragm

Skin Nails & Hair- Skin:
granuloma annulare

Immunology:
normal immune profile

Skeletal- Spine:
scoliosis

Head And Neck- Face:
micrognathia
facial swelling
recurrent facial cellulitis

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Head And Neck- Neck:
webbed neck
swelling of the neck

Cardiovascular- Vascular:
generalized edema
varicose veins
deep vein thrombosis

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

Head And Neck- Eyes:
periorbital edema
epicanthic folds

Neurologic- Central Nervous System:
developmental delay, mild

Respiratory:
chylothorax
pleural effusions, bilateral

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 13)
id Description HPO Frequency HPO Source Accession
1 short stature 32 very rare (1%) HP:0004322
2 splenomegaly 32 very rare (1%) HP:0001744
3 micrognathia 32 very rare (1%) HP:0000347
4 atrial septal defect 32 very rare (1%) HP:0001631
5 webbed neck 32 HP:0000465
6 cellulitis 32 very rare (1%) HP:0100658
7 epicanthus 32 very rare (1%) HP:0000286
8 deep venous thrombosis 32 very rare (1%) HP:0002625
9 intestinal lymphangiectasia 32 very rare (1%) HP:0002593
10 lymphedema 32 HP:0001004
11 facial edema 32 HP:0000282
12 chylothorax 32 very rare (1%) HP:0010310
13 prune belly 32 very rare (1%) HP:0004392

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:

id Genetic test Affiliating Genes
1 Lymphedema, Hereditary, Iii 29

Anatomical Context for Lymphedema, Hereditary, Iii

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

39
Skin

Publications for Lymphedema, Hereditary, Iii

Variations for Lymphedema, Hereditary, Iii

ClinVar genetic disease variations for Lymphedema, Hereditary, Iii:

6
id 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.4888G> T (p.Glu1630Ter) single nucleotide variant Pathogenic rs869025597 GRCh37 Chromosome 16, 88788693: 88788693
3 PIEZO1 NM_001142864.3(PIEZO1): c.6682C> T (p.Gln2228Ter) single nucleotide variant Pathogenic rs869025598 GRCh37 Chromosome 16, 88783285: 88783285
4 PIEZO1 NM_001142864.3(PIEZO1): c.3700_3796del97 single nucleotide variant Pathogenic rs869025599 GRCh38 Chromosome 16, 88726546: 88726546
5 PIEZO1 NM_001142864.3(PIEZO1): c.6511G> T (p.Val2171Phe) single nucleotide variant Pathogenic rs370296725 GRCh37 Chromosome 16, 88783580: 88783580
6 PIEZO1 NM_001142864.3(PIEZO1): c.1669+1G> A single nucleotide variant Pathogenic rs869025600 GRCh37 Chromosome 16, 88801542: 88801542
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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
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37 KEGG
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42 MeSH
43 MESH via Orphanet
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54 OMIM
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59 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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