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 61 - 70 of 81 in total
Gene ID Gene Symbol Description Source
54187 NANS N-acetylneuraminate synthase
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55768 NGLY1 N-glycanase 1
56623 INPP5E inositol polyphosphate-5-phosphatase E
57462 MYORG myogenesis regulating glycosidase (putative)
57511 COG6 component of oligomeric golgi complex 6
64116 SLC39A8 solute carrier family 39 member 8
79143 MBOAT7 membrane bound O-acyltransferase domain containing 7
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
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