Hennekam Lymphangiectasia-Lymphedema Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
hennekam lymphangiectasia-lymphedema syndrome 1:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Skin diseases, Blood diseases, Immune diseases
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
OMIM:51 Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic... (235510) more...
MalaCards based summary: Hennekam Lymphangiectasia-Lymphedema Syndrome 1, also known as hennekam syndrome, is related to hennekam lymphangiectasia-lymphedema syndrome 2 and ausems wittebol-post hennekam syndrome, and has symptoms including malar flattening, hypertelorism and low-set, posteriorly rotated ears. An important gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome 1 is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and VEGF binds to VEGFR leading to receptor dimerization. Affiliated tissues include kidney, skin and thyroid, and related mouse phenotypes are immune system and digestive/alimentary.
Disease Ontology:11 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
Genetics Home Reference:25 Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
UniProtKB/Swiss-Prot:69 Hennekam lymphangiectasia-lymphedema syndrome 1: 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.
Wikipedia:70 Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal... more...
Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:63 (show all 92)
UMLS symptoms related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:seizures, periorbital edema
MalaCards organs/tissues related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:35
Kidney, Skin, Thyroid
MGI Mouse Phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:40
UniProtKB/Swiss-Prot genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:69
Clinvar genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:5
Search GEO for disease gene expression data for Hennekam Lymphangiectasia-Lymphedema Syndrome 1.
Pathways related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:(show all 15)
Cellular components related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet