Entity Details
Primary name |
ADAMTS3 |
Entity type |
gene |
Source |
Source Link |
Details
PrimaryID | 9508 |
RefseqGene | NG_046955 |
Symbol | ADAMTS3 |
Name | ADAM metallopeptidase with thrombospondin type 1 motif 3 |
Chromosome | 4 |
Location | 4q13.3 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 1999-04-16 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
618154 | OMIM | Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) | 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions