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Browse result for Hennekam syndrome
※ introduction 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.
Reference
DiseaseOntology: Hennekam syndrome
Reference
DiseaseOntology: Hennekam syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD08440 | Q6UXH8 | 14737 | CCBE1 | Collagen and calcium-binding EGF domain-containing protein 1 | Homo sapiens |
| PTMD08461 | Q6V0I7 | 79633 | FAT4 | Protocadherin Fat 4 | Homo sapiens |
