Boucher-Neuhauser syndrome

Summary
Synonym
  • ataxia-hypogonadism-choroidal dystrophy syndrome
Definition
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0111265
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10908 PNPLA6 patatin like phospholipase domain containing 6
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8IY17 Patatin-like phospholipase domain-containing protein 6
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0001135 Chorioretinal dystrophy
HP:0000044 Hypogonadotropic hypogonadism
HP:0001251 Ataxia
HP:0001256 Intellectual disability, mild
HP:0002168 Scanning speech
HP:0000556 Retinal dystrophy
HP:0007263 Spinocerebellar atrophy
HP:0001284 Areflexia
HP:0002080 Intention tremor
HP:0003676 Progressive
Displaying 1 entry
Gene ID Gene Symbol Description
10908 PNPLA6 patatin like phospholipase domain containing 6

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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