Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Malabsorption Syndromes (D008286)
..Starting node ..Lysine Malabsorption Syndrome (C563080)
Child Nodes:
Sister Nodes:
..Blind Loop Syndrome (D001765)
..Celiac Disease (D002446)
..Chylomicron retention disease (C535460)
..Collagenous Sprue (D064068)
..Diarrhea 4, Malabsorptive, Congenital (C563673)
..Diarrhea 5, With Tufting Enteropathy, Congenital (C567703)
..Folate Malabsorption, Hereditary (C562799)
..Glucose-Galactose Malabsorption (C562602)
..Hyperhomocysteinemia (D020138) 8
..Imerslund-Grasbeck syndrome (C538556) 1
..Lactose Intolerance (D007787) 1
..Lysine Malabsorption Syndrome (C563080)
..Microvillus inclusion disease (C537470)
..Short Bowel Syndrome (D012778)
..Sprue, Tropical (D013182)
..Steatorrhea (D045602) 1
..Whipple Disease (D008061) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6644

Name:

Lysine Malabsorption Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000592|MESH:D008286

TreeNumbers:

C06.405.469.637/C563080 |C16.320.565.100/C563080 |C18.452.603/C563080 |C18.452.648.100/C563080

Synonyms:

Slim Mappings:

Digestive system disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C563080
MeSH: C563080
OMIM: 247950;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001510	Growth delay
3	HP:0003297	Hyperlysinuria
4	HP:0001249	Intellectual disability
5	HP:0008272	Renal tubular lysine transport defect

Disease Causing ClinVar Variants