MCID: HNN004
MIFTS: 17

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 54 24 71 29 69
Hklls2 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 616006
MedGen 40 CN219642

Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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:

54

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

Skeletal- Hands:
camptodactyly

Abdomen- Gastroin testinal:
intestinal lymphangiectasia

Cardiovascular- Heart:
pericardial lymphangiectasia

Head And Neck- Mouth:
small mouth

Head And Neck- Eyes:
blepharophimosis
epicanthus
hypertelorism

Head And Neck- Face:
flat face
dysmorphic facies

Muscle Soft Tissue:
lymphangiectasia
lymphedema

Genitourinary- Kidneys:
renal lymphangiectasia

Respiratory- Lung:
pulmonary lymphangiectasia

Head And Neck- Teeth:
irregular dentition

Head And Neck- Nose:
flat nasal bridge

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

Growth- Other:
growth retardation


Clinical features from OMIM:

616006

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:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 29 24 FAT4

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 2

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

39
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:

71
id 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
id 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.7041_7046dupTGGAAC (p.Thr2349_Ile2350insGlyThr) duplication Pathogenic rs587777724 GRCh37 Chromosome 4, 126355422: 126355427
3 FAT4 NM_024582.4(FAT4): c.1195delC (p.Leu399Serfs) deletion Pathogenic rs587777725 GRCh37 Chromosome 4, 126238761: 126238761
4 FAT4 NM_001291303.1(FAT4): c.12851C> T (p.Ser4284Phe) single nucleotide variant Pathogenic rs199682210 GRCh38 Chromosome 4, 125487373: 125487373
5 FAT4 NM_001291303.1(FAT4): c.7204A> C (p.Arg2402=) single nucleotide variant Pathogenic rs587777726 GRCh38 Chromosome 4, 125446297: 125446297

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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11 DGIdb
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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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