IllnessPerrault syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Perrault syndrome comprising 5 or altogether 16 curated genes according to the clinical signs
ID
PP0530
Number of genes
9
Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
16,6 kb (Extended panel: incl. additional genes)
16,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Association of ovarian dysgenesis in females with sensorineural hearing impairment, at times with neurologic abnormalities, notably progressive cerebellar ataxia + intellectual deficit
Synonyms
- Alias: Ovarian dysgenesis with sensorineural deafness
- Allelic: D-bifunctional protein deficiency (HSD17B4)
- Allelic: Fragile X syndrome (FMR1_CCG)
- Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
- Allelic: Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
- Allelic: Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Allelic: Ovarian hyperstimulation syndrome (FSHR)
- Allelic: Ovarian response to FSH stimulation (FSHR)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- Allelic: Spermatogenic failure 32 (SOHLH1)
- Combined oxidative phosphorylation deficiency 11 (RMND1)
- Deafness, AR 29 (CLDN14)
- Ovarian dysgenesis 1 (FSHR)
- Ovarian dysgenesis 2 (BMP15)
- Ovarian dysgenesis 3 (PSMC3IP)
- Ovarian dysgenesis 4 (MCM9)
- Ovarian dysgenesis 5 (SOHLH1)
- Perrault syndrome 1 (HSD17B4)
- Perrault syndrome 2 (HARS2)
- Perrault syndrome 3 (CLPP)
- Perrault syndrome 4 (LARS2)
- Perrault syndrome 5 (TWNK)
- Perrault syndrome 6 (ERAL1)
- Perrault syndrome [panelapp] (SGO2)
- Premature ovarian failure 1 (FMR1_CCG)
- Premature ovarian failure 4 (BMP15)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatics and clinical interpretation
No text defined