Deutsch
IllnessWaardenburg-Shah syndrome
Summary
Short information
Three curated single gene sequence analyses according to the clinical suspicion ´Waardenburg-Shah syndrome
ID
WP0010
Number of genes
3
Accredited laboratory test
Examined sequence length
2,8 kb (Core-/Core-canditate-Genes)
3,5 kb (Extended panel: incl. additional genes)
3,5 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 Waardenburg syndrome (sensorineural hearing loss + pigmentary abnormalities) + Hirschsprung disease (aganglionic megacolon)
Synonyms
- ABCD syndrome: Albinism, Black lock, Cell migration disorder neurocytes gut, Deafness
- PCWH: Periph. demyel. neuropathy, Central dysmyelin., Waardenburg syndr., Morbus Hirschsp.
- Alias: Colonic aganglionosis (EDNRB)
- Alias: Shah-Waardenburg syndrome (EDNRB)
- Allelic: ABCD syndrome (EDNRB)
- Allelic: Central hypoventilation syndrome, congenital (EDN3)
- Allelic: Hirschsprung Disease, dominant [panelapp] (EDN3)
- Allelic: Hirschsprung disease, susceptibility to, 2 (EDNRB)
- Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
- Allelic: Long-segment Hirschsprung's disease (EDNRB)
- Allelic: PCWH syndrome, incl. Hirschsprung disease, long-segment [panelapp] (SOX10)
- Allelic: Short-segment Hirschsprung disease [panelapp] (EDN3, EDNRB)
- Allelic: Total colonic aganglionosis [panelapp] (EDN3)
- Allelic: Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
- Waardenburg syndrome, type 4A; Waardenburg-Shah syndrome (EDNRB)
- Waardenburg syndrome, type 4B (EDN3)
- Waardenburg syndrome, type 4C; Waardenburg-Shah syndrome (SOX10)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatics and clinical interpretation
No text defined