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 21 - 30 of 81 in total
Gene ID Gene Symbol Description Source
3425 IDUA alpha-L-iduronidase
3897 L1CAM L1 cell adhesion molecule
4534 MTM1 myotubularin 1
4907 NT5E 5'-nucleotidase ecto
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
4967 OGDH oxoglutarate dehydrogenase
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
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