ErkrankungHypoventilationssyndrom, zentrales; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 5 bzw. 6 Genen zur umfassenden Untersuchung von genetisch bedingten Formen des zentralen Hypoventilationssyndroms
ID
HP0891
Anzahl Gene
5
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
4,3 kb (Core-/Basis-Gene)
6,4 kb (Erweitertes Panel)
6,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_HP0891
Synonyme
- Alias: Central congenital hypoventilation syndrome
- Alias: Congenital central alveolar hypoventilation syndrome
- Alias: Ondine Syndrom
- Allelic: Encephalopathy, neonatal severe (MECP2)
- Allelic: Haddad syndrome (ASCL1)
- Allelic: Hirschsprung disease, protection against (RET)
- Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
- Allelic: Hirschsprung disease, susceptibility to, 3 (GDNF)
- Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
- Allelic: Medullary thyroid carcinoma (RET)
- Allelic: Multiple endocrine neoplasia IIA (RET)
- Allelic: Multiple endocrine neoplasia IIB (RET)
- Allelic: Neuroblastoma with Hirschsprung disease (PHOX2B)
- Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
- Allelic: Pheochromocytoma (RET)
- Allelic: Pheochromocytoma, modifier of (GDNF)
- Allelic: Waardenburg syndrome, type 4B (EDN3)
- Autism susceptibility, XL3 (MECP2)
- Central hypoventilation syndrome, congenital (ASCL1, EDN3, GDNF, RET)
- Central hypoventilation syndrome, congenital, 2, + autonomic dysfunction (MYO1H)
- Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- Central hypoventilation syndrome, congenital, 3 (LBX1)
- Central hypoventilation syndrome, congenital, with/-out Hirschsprung disease (PHOX2B)
- Hypotonia, hypoventilation, impaired ID, dysautonomia, epilepsy + eye abnormalities (P4HTM)
- Intellectual developmental disorder, XL syndromic 13 (MECP2)
- Intellectual developmental disorder, XL syndromic, Lubs type (MECP2)
- Rett syndrome (MECP2)
- Rett syndrome, atypical (MECP2)
- Rett syndrome, preserved speech variant (MECP2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder Dig und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G47.32
Bioinformatik und klinische Interpretation
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