MCID: HNN006
MIFTS: 10

Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

MalaCards integrated aliases for Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

Name: Hennekam Lymphangiectasia-Lymphedema Syndrome 3 57 6
Hklls3 57

Classifications:



External Ids:

OMIM 57 618154

Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

OMIM : 57 Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510). (618154)

MalaCards based summary : Hennekam Lymphangiectasia-Lymphedema Syndrome 3, also known as hklls3, is related to hennekam lymphangiectasia-lymphedema syndrome 1 and lymphedema. An important gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome 3 is ADAMTS3 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3).

Related Diseases for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Diseases in the Hennekam Lymphangiectasia-Lymphedema Syndrome 1 family:

Hennekam Lymphangiectasia-Lymphedema Syndrome 2 Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Diseases related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hennekam lymphangiectasia-lymphedema syndrome 1 10.4
2 lymphedema 10.4

Symptoms & Phenotypes for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Clinical features from OMIM:

618154

Drugs & Therapeutics for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Search Clinical Trials , NIH Clinical Center for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Genetic Tests for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Articles related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

# Title Authors Year
1
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. ( 28985353 )
2017

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

ClinVar genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS3 NM_014243.2(ADAMTS3): c.503T> C (p.Leu168Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 72548479: 72548479
2 ADAMTS3 NM_014243.2(ADAMTS3): c.503T> C (p.Leu168Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 73414196: 73414196
3 ADAMTS3 NM_014243.2(ADAMTS3): c.872T> C (p.Ile291Thr) single nucleotide variant Pathogenic rs61757480 GRCh38 Chromosome 4, 72323087: 72323087
4 ADAMTS3 NM_014243.2(ADAMTS3): c.872T> C (p.Ile291Thr) single nucleotide variant Pathogenic rs61757480 GRCh37 Chromosome 4, 73188804: 73188804

Expression for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Search GEO for disease gene expression data for Hennekam Lymphangiectasia-Lymphedema Syndrome 3.

Pathways for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

GO Terms for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Sources for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

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