HKLLS3
MCID: HNN006
MIFTS: 23

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 57 72 29 6
Hklls3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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


HPO:

31
hennekam lymphangiectasia-lymphedema syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

UniProtKB/Swiss-Prot : 72 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 hennekam syndrome. An important gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome 3 is ADAMTS3 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3). Affiliated tissues include testis, and related phenotypes are hypertelorism and anteverted nares

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) (Updated 20-May-2021)

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 10.3
2 hennekam syndrome 10.3
3 hereditary lymphedema i 10.3
4 lymphangiectasis 10.3
5 primary lymphedema 10.3

Graphical network of the top 20 diseases related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3:



Diseases related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Symptoms & Phenotypes for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 anteverted nares 31 HP:0000463
3 lymphedema 31 HP:0001004
4 flat face 31 HP:0012368
5 upslanted palpebral fissure 31 HP:0000582
6 polyhydramnios 31 HP:0001561
7 facial edema 31 HP:0000282
8 hydrocele testis 31 HP:0000034
9 protein-losing enteropathy 31 HP:0002243

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
strabismus or pseudostrabismus

Head And Neck Face:
flat face
facial edema, mild

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

Abdomen Gastrointestinal:
protein-losing enteropathy

Muscle Soft Tissue:
lymphedema, predominantly of lower extremities

Head And Neck Nose:
anteverted nares
peaked nares

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Female:
edema

Genitourinary External Genitalia Male:
hydrocele

Clinical features from OMIM®:

618154 (Updated 20-May-2021)

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

Genetic tests related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

# Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 29 ADAMTS3

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

MalaCards organs/tissues related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

40
Testis

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

Articles related to Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

# Title Authors PMID Year
1
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. 57 6 61
30450763 2018
2
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. 61 57 6
28985353 2017

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS3 NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro) SNV Pathogenic 586987 rs1177851177 GRCh37: 4:73414196-73414196
GRCh38: 4:72548479-72548479
2 ADAMTS3 NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr) SNV Pathogenic 586988 rs61757480 GRCh37: 4:73188804-73188804
GRCh38: 4:72323087-72323087
3 ADAMTS3 NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) SNV Pathogenic 627548 rs747975445 GRCh37: 4:73414419-73414419
GRCh38: 4:72548702-72548702

UniProtKB/Swiss-Prot genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 ADAMTS3 p.Leu168Pro VAR_081558 rs117785117
2 ADAMTS3 p.Ile291Thr VAR_081559 rs61757480

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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