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 71 - 80 of 81 in total
Gene ID Gene Symbol Description Source
84342 COG8 component of oligomeric golgi complex 8
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
113189 CHST14 carbohydrate sulfotransferase 14
145173 B3GLCT beta 3-glucosyltransferase
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3
285203 EOGT EGF domain specific O-linked N-acetylglucosamine transferase
285362 SUMF1 sulfatase modifying factor 1
653509 SFTPA1 surfactant protein A1
729238 SFTPA2 surfactant protein A2
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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Last updated: August 19, 2024