hydrocephalus

Summary
Synonym
  • hydrocephalus, X-linked
  • hydrocephalus, nonsyndromic, autosomal recessive
Definition
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
Super Class
cerebral degeneration
Related Genes
Displaying entries 41 - 50 of 81 in total
Gene ID Gene Symbol Description Source
9126 SMC3 structural maintenance of chromosomes 3
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9469 CHST3 carbohydrate sulfotransferase 3
9791 PTDSS1 phosphatidylserine synthase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10329 RXYLT1 ribitol xylosyltransferase 1
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
10585 POMT1 protein O-mannosyltransferase 1
10682 EBP EBP cholestenol delta-isomerase
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
15289 Hmgb1 high mobility group box 1
19013 Ppara peroxisome proliferator activated receptor alpha
74653 Pomk protein-O-mannose kinase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25459 Hmgb1 high mobility group box 1
25747 Ppara peroxisome proliferator activated receptor alpha
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 21 in total
HPO ID HPO Term
HP:0001181 Adducted thumb
HP:0010864 Intellectual disability, severe
HP:0001257 Spasticity
HP:0000486 Strabismus
HP:0001387 Joint stiffness
HP:0001249 Intellectual disability
HP:0009600 Thumb contracture
HP:0000256 Macrocephaly
HP:0001258 Spastic paraplegia
HP:0001419 X-linked recessive inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
3897 L1CAM L1 cell adhesion molecule

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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: August 19, 2024