MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandfemale infertility due to gonadal dysgenesis (MONDO:0018402)
Parent Node:
expandgenetic infertility (MONDO:0017143)
Parent Node:
expandinherited primary ovarian failure (MONDO:0019852)
Parent Node:
expandmitochondrial disorder due to a defect in mitochondrial protein synthesis (MONDO:0018157)
Parent Node:
expandsyndrome with 46,XX disorder of sex development (MONDO:0017965)
Parent Node:
expandsyndrome with disorder of sex development of gynecological interest (MONDO:0017978)
..Starting node
..expandPerrault syndrome ()

       Child Nodes:
........expandPerrault syndrome 1 ()
........expandPerrault syndrome 2 ()  LSDB  L: 00483;
........expandPerrault syndrome 3 ()
........expandPerrault syndrome 4 ()  LSDB  L: 00116;
........expandPerrault syndrome 5 ()
........expandPerrault syndrome 6 ()



 Sister Nodes: 
..expand46,XX disorder of sex development-skeletal anomalies syndrome ()
..expand46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ()
..expandalpha thalassemia-X-linked intellectual disability syndrome ()
..expandcampomelic dysplasia ()
..expandchondrodysplasia-pseudohermaphroditism syndrome ()
..expandDenys-Drash syndrome ()
..expanddisorder of sex development-intellectual disability syndrome ()
..expanddistal monosomy 9p ()
..expanddysmorphism-short stature-deafness-disorder of sex development syndrome ()
..expandFrasier syndrome ()
..expandlung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ()
..expandMeacham syndrome ()
..expandmullerian aplasia and hyperandrogenism ()
..expandPAGOD syndrome ()
..expandpalmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ()
..expandPerrault syndrome ()
..expandtetragametic chimerism ()
..expandTurner syndrome ()
..expandWAGR syndrome ()
..expandXY type gonadal dysgenesis-associated anomalies syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17312
Name:Perrault syndrome
Definition:Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:gonadal dysgenesis, XX type, with deafness; XX gonodal dysgenesis-deafness syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal