MCID: HNN004
MIFTS: 20

Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

MalaCards integrated aliases for Hennekam Lymphangiectasia-Lymphedema Syndrome 2:

Name: Hennekam Lymphangiectasia-Lymphedema Syndrome 2 57 75 29 6 73
Hklls2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hennekam lymphangiectasia-lymphedema syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

UniProtKB/Swiss-Prot : 75 Hennekam lymphangiectasia-lymphedema syndrome 2: 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 severe mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly.

MalaCards based summary : Hennekam Lymphangiectasia-Lymphedema Syndrome 2, is also known as hklls2. An important gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome 2 is FAT4 (FAT Atypical Cadherin 4). Affiliated tissues include lung and kidney, and related phenotypes are narrow mouth and epicanthus

OMIM : 57 Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510). (616006)

Related Diseases for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Diseases in the Hennekam Lymphangiectasia-Lymphedema Syndrome 1 family:

Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Symptoms & Phenotypes for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthus
blepharophimosis

Head And Neck Face:
flat face
dysmorphic facies

Respiratory Lung:
pulmonary lymphangiectasia

Head And Neck Ears:
small ears
hearing loss (in some patients)
thick helices

Growth Other:
growth retardation

Abdomen Gastrointestinal:
intestinal lymphangiectasia

Genitourinary Kidneys:
renal lymphangiectasia

Muscle Soft Tissue:
lymphedema
lymphangiectasia

Skeletal Hands:
camptodactyly

Head And Neck Teeth:
irregular dentition

Head And Neck Mouth:
small mouth

Head And Neck Nose:
flat nasal bridge

Cardiovascular Heart:
pericardial lymphangiectasia

Neurologic Central Nervous System:
impaired cognition (in some patients)


Clinical features from OMIM:

616006

Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 2:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 32 very rare (1%) HP:0000160
2 epicanthus 32 very rare (1%) HP:0000286
3 hypertelorism 32 very rare (1%) HP:0000316
4 hearing impairment 32 very rare (1%) HP:0000365
5 blepharophimosis 32 very rare (1%) HP:0000581
6 osteoporosis 32 very rare (1%) HP:0000939
7 lymphedema 32 HP:0001004
8 syndactyly 32 very rare (1%) HP:0001159
9 intellectual disability, mild 32 very rare (1%) HP:0001256
10 growth delay 32 very rare (1%) HP:0001510
11 intestinal lymphangiectasia 32 very rare (1%) HP:0002593
12 pericardial lymphangiectasia 32 HP:0005183
13 depressed nasal bridge 32 very rare (1%) HP:0005280
14 pulmonary lymphangiectasia 32 HP:0006521
15 microtia 32 very rare (1%) HP:0008551
16 flat face 32 HP:0012368
17 camptodactyly 32 very rare (1%) HP:0012385
18 irregular dentition 32 very rare (1%) HP:0040079

Drugs & Therapeutics for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Search Clinical Trials , NIH Clinical Center for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Genetic Tests for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Genetic tests related to Hennekam Lymphangiectasia-Lymphedema Syndrome 2:

# Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 29 FAT4

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

MalaCards organs/tissues related to Hennekam Lymphangiectasia-Lymphedema Syndrome 2:

41
Lung, Kidney

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 FAT4 p.Glu2375Lys VAR_070925 rs398122955
2 FAT4 p.Phe475Leu VAR_071948
3 FAT4 p.Glu486Gln VAR_071949
4 FAT4 p.Ser4282Phe VAR_071950 rs199682210

ClinVar genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh37 Chromosome 4, 126355504: 126355504
2 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh38 Chromosome 4, 125434349: 125434349
3 FAT4 NM_024582.4(FAT4): c.7041_7046dupTGGAAC (p.Thr2349_Ile2350insGlyThr) duplication Pathogenic rs587777724 GRCh37 Chromosome 4, 126355422: 126355427
4 FAT4 NM_024582.4(FAT4): c.7041_7046dupTGGAAC (p.Thr2349_Ile2350insGlyThr) duplication Pathogenic rs587777724 GRCh38 Chromosome 4, 125434267: 125434272
5 FAT4 NM_024582.4(FAT4): c.1195delC (p.Leu399Serfs) deletion Pathogenic rs587777725 GRCh37 Chromosome 4, 126238761: 126238761
6 FAT4 NM_024582.4(FAT4): c.1195delC (p.Leu399Serfs) deletion Pathogenic rs587777725 GRCh38 Chromosome 4, 125317606: 125317606
7 FAT4 NM_001291303.1(FAT4): c.12851C> T (p.Ser4284Phe) single nucleotide variant Uncertain significance rs199682210 GRCh38 Chromosome 4, 125487373: 125487373
8 FAT4 NM_001291303.1(FAT4): c.12851C> T (p.Ser4284Phe) single nucleotide variant Uncertain significance rs199682210 GRCh37 Chromosome 4, 126408528: 126408528
9 FAT4 NM_001291303.1(FAT4): c.7204A> C (p.Arg2402=) single nucleotide variant Pathogenic rs587777726 GRCh38 Chromosome 4, 125446297: 125446297
10 FAT4 NM_001291303.1(FAT4): c.7204A> C (p.Arg2402=) single nucleotide variant Pathogenic rs587777726 GRCh37 Chromosome 4, 126367452: 126367452

Expression for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Search GEO for disease gene expression data for Hennekam Lymphangiectasia-Lymphedema Syndrome 2.

Pathways for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

GO Terms for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Sources for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

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74 UMLS via Orphanet
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