HKLLS3
MCID: HNN006
MIFTS: 16

Hennekam Lymphangiectasia-Lymphedema Syndrome 3 (HKLLS3)

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 58 76 6
Hklls3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of a brother and sister western european origin (last curated october 2018)
lymphedema of lower extremities present at birth
marked improvement of lymphedema with fever


Classifications:



External Ids:

OMIM 58 618154

Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

UniProtKB/Swiss-Prot : 76 Hennekam lymphangiectasia-lymphedema syndrome 3: A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest mental retardation. HKLLS3 is characterized by widespread congenital edema, facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 transmission pattern is consistent with autosomal recessive inheritance.

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).

OMIM : 58 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)

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
strabismus or pseudostrabismus

Abdomen External Features:
edema
stellate-shaped umbilicus (in 1 patient)

Head And Neck Face:
flat face
facial edema, mild

Abdomen Gastrointestinal:
protein-losing enteropathy

Muscle Soft Tissue:
lymphedema, predominantly of lower extremities

Head And Neck Nose:
anteverted nares
peaked nares

Genitourinary External Genitalia Female:
edema

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
hydrocele

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 GRCh38 Chromosome 4, 72323087: 72323087
4 ADAMTS3 NM_014243.2(ADAMTS3): c.872T> C (p.Ile291Thr) single nucleotide variant Pathogenic 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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75 UMLS via Orphanet
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