Miller-Dieker lissencephaly syndrome

Summary
Synonym
  • MDS
  • Miller-Dieker syndrome
Definition
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0060469
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4335 MNT MAX network transcriptional repressor
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
7531 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Displaying all 2 entries
Gene ID Gene Symbol Description Source
17428 Mnt max binding protein
22627 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
The Human Phenotype Ontology
Displaying entries 11 - 18 of 18 in total
HPO ID HPO Term
HP:0001539 Omphalocele
HP:0000286 Epicanthus
HP:0002120 Cerebral cortical atrophy
HP:0001250 Seizure
HP:0003196 Short nose
HP:0001339 Lissencephaly
HP:0000463 Anteverted nares
HP:0001626 Abnormality of the cardiovascular system
Displaying 1 entry
Gene ID Gene Symbol Description
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024