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Details of MPI gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MPI | PMI1 | P34949 | MPI_HUMAN | 4351
| --- | ENSG00000178802 | psychomotor retarda |
Disease |
|---|
| Disease |
OMIM id |
| Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features |
psychomotor retardation |
Phenotypes
Abdominal symptom, Abnormal bleeding, Abnormal glucose homeostasis, Abnormal isoelectric focusing of serum transferrin, Abnormal muscle tone, Abnormal thrombosis, Abnormality of blood and blood-forming tissues, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of circulating hormone level, Abnormality of circulating protein level, Abnormality of coagulation, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the coagulation cascade, Abnormality of the endocrine system, Abnormality of the gastrointestinal tract, Abnormality of the intestine, Abnormality of the intrinsic pathway, Abnormality of the liver, Abnormality of the musculature, Abnormality of the small intestine, All, Autosomal recessive inheritance, Cirrhosis, Decreased body weight, Decreased liver function, Diarrhea, Failure to thrive, Growth abnormality, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Mode of inheritance, Muscular hypotonia, Nausea and vomiting, Phenotypic abnormality, Protein-losing enteropathy, Reduced antithrombin III activity, Reduced factor XI activity, Type I transferrin isoform profile, Visceromegaly, Vomiting.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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