holoprosencephaly

Summary
Synonym
  • Holoprosencephaly sequence
Definition
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Super Class
congenital nervous system abnormality syndrome
Disease Ontology
DOID:4621
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
5727 PTCH1 patched 1
6469 SHH sonic hedgehog signaling molecule
7050 TGIF1 TGFB induced factor homeobox 1
23007 PLCH1 phospholipase C eta 1
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
51070 NOSIP nitric oxide synthase interacting protein
80055 PGAP1 post-GPI attachment to proteins inositol deacylase 1
84107 ZIC4 Zic family member 4
Displaying all 5 entries
Gene ID Gene Symbol Description Source
19206 Ptch1 patched 1
20423 Shh sonic hedgehog
22773 Zic3 zinc finger protein of the cerebellum 3
65100 Zic5 zinc finger protein of the cerebellum 5
241062 Pgap1 post-GPI attachment to proteins 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29499 Shh sonic hedgehog signaling molecule
316400 Pgap1 post-GPI attachment to proteins inositol deacylase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31487 PGAP1 Post-GPI attachment to proteins 1
35851 ptc patched
Displaying all 6 entries
Gene ID Gene Symbol Description Source
171881 pign-1 GPI ethanolamine phosphate transferase 1
173631 ptc-3 Protein patched homolog 3
174274 ptc-1 Protein patched homolog 1;SSD domain-containing protein
179556 pgap-1 GPI inositol-deacylase
180349 grd-2 Ground-like domain-containing protein
180638 wrt-6 Warthog protein 6 N-product
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850519 BST1 Bst1p
853690 MCD4 mannose-ethanolamine phosphotransferase MCD4

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Acknowledgements

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Last updated: December 9, 2024