openSNP

Phenotype: Congenital Sucrase-Isomaltase Deficiency

A genetic disorder causing impairments in the sucrase-isomaltase enzyme, which is responsible for sugar and a large part of starch digestion. There are five subtypes recognized by Orphanet: Congenital sucrase-isomaltase deficiency with starch intolerance, congenital sucrase-isomaltase deficiency without starch intolerance, congenital sucrase-isomaltase deficiency with minimal starch tolerance, congenital sucrase-isomaltase deficiency without sucrose intolerance, and congenital sucrase-isomaltase deficiency with starch and lactose intolerance.

Phenotype	Number of Users
RCCX	7
The Cracker Test	6
Polycythemia Vera	8
Black curly hair,brown eyes,olive skin	11
Adverse effects of glucose injections	4
Ibuprofen, NSAIDs	7

User	Variation
JRD	Negative
atelepen	Negative
Kaley White	Negative
otis	Negative
battletroll79	Negative
Avery	Negative

JRD

Made a mistake

03.08.2020 00:05

I put only one variation by mistake, that seemingly can't even be submitted, and so the phenotype is useless unless it can be modified.

JRD

03.08.2020 00:10

There was actually a variation, and I don't need to edit the phenotype, so I take back my earlier comment.

Known Phenotypes:

Negative

Phenotype: Congenital Sucrase-Isomaltase Deficiency

Known Phenotypes:

Contacts