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 11 - 20 of 81 in total
Gene ID Gene Symbol Description Source
2218 FKTN fukutin
2581 GALC galactosylceramidase
2629 GBA1 glucosylceramidase beta 1
2719 GPC3 glypican 3
2720 GLB1 galactosidase beta 1
2731 GLDC glycine decarboxylase
2752 GLUL glutamate-ammonia ligase
2990 GUSB glucuronidase beta
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
3423 IDS iduronate 2-sulfatase
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 1 - 10 of 21 in total
HPO ID HPO Term
HP:0001274 Agenesis of corpus callosum
HP:0000639 Nystagmus
HP:0002410 Aqueductal stenosis
HP:0000280 Coarse facial features
HP:0001360 Holoprosencephaly
HP:0004374 Hemiplegia/hemiparesis
HP:0001250 Seizure
HP:0000238 Hydrocephalus
HP:0001331 Absent septum pellucidum
HP:0002516 Increased intracranial pressure
Displaying 1 entry
Gene ID Gene Symbol Description
3897 L1CAM L1 cell adhesion molecule

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Last updated: August 19, 2024