ErkrankungAnalatresie/anorektale Fehlbildungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Analatresie und anorektale Fehlbildungen mit 3 bzw. 15 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
AP3579
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,9 kb (Core-/Basis-Gene)
37,9 kb (Erweitertes Panel)
37,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CCNQ | 685 | XLD | |
SALL1 | 3975 | AD | |
SALL4 | 3162 | AD | |
CDX1 | 798 | AD | |
DACT1 | 2515 | XLD | |
EDNRB | 1329 | AD und/oder AR und/oder Sus | |
FANCB | 2580 | XLR und/oder Sus | |
FOXF1 | 1140 | AD | |
GLI3 | 4743 | AD | |
MED12 | 6534 | XLR | |
MID1 | 2004 | XLR | |
RECQL4 | 3628 | AR | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
ZIC3 | 1404 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
siehe Akro-renales-okuläres Syndrom, Duane, IVIC, Okihiro, Townes-Brook Syndrome; VACTERL-Gene als DD, siehe auch PP0016; anorektale Fehlbildung angefügt
Synonyme
- Alias: Anal atresia
- Allelic: Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)
- Allelic: Baller-Gerold syndrome [craniosynostosis, radial aplasia] (RECQL4)
- Allelic: Central hypoventilation syndrome, congenital (RET)
- Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
- Allelic: Fanconi anemia, complementation group B (FANCB)
- Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
- Allelic: Heterotaxy, visceral, 1, XL (ZIC3)
- Allelic: Hirschsprung disease, protection against (RET)
- Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
- Allelic: Hirschsprung disease, susceptibility to, 2 (EDVRB)
- Allelic: Hypothalamic hamartomas, somatic (GLI3)
- Allelic: Intellectual developm. disorder + microcephaly with pontine + cerebellar hypoplasia (CASK)
- Allelic: Lujan-Fryns syndrome [mental retardation, XL; marfanoid habitus] (MED12)
- Allelic: Medullary thyroid carcinoma (RET)
- Allelic: Mental retardation, with/-out nystagmus (CASK)
- Allelic: Multiple endocrine neoplasia IIA + IIB (RET)
- Allelic: Ohdo syndrome, XL [blepharophimosis, mental retardation] (MED12)
- Allelic: Pallister-Hall syndrome (GLI3)
- Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
- Allelic: Pheochromocytoma (RET)
- Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
- Allelic: Polydactyly, preaxial, type IV (GLI3)
- Allelic: RAPADILINO syndrome [radial + patellar aplasia/hypoplasia] (RECQL4)
- Allelic: Rothmund-Thomson syndrome, type 2 [poikiloderma, cong. bone defects, osteosarc.] (RECQL4)
- Allelic: Waardenburg syndrome, type 4A (EDNRB)
- ABCD syndrome [Albinism, Black lock, Cell migration disorder of gut, Deafness] (EDNRB)
- Anorectal malformation (CASK, CDX1, CDX2, FANCB, FOXF1, GLI3, MED12, MNX1, MYCN, MYH14, RET, ZIC3)
- Currarino syndrome [part. sacral agenesis, presacral mass, anorectal malformation] (MNX1)
- Duane-radial ray [Okihiro; acro-renal-ocular] syndrome (SALL4)
- FG syndrome 4 (CASK)
- Feingold syndrome 1 (MYCN)
- IVIC [upper limb anomalies, extraoc. motor disturb., cong. bilateral hearing loss] syndrome (SALL4)
- Opitz GBBB syndrome, type I [hypertelorism, esophageal abnormality, hypospadias] (MID1)
- Opitz-Kaveggia [FG] syndrome [ment. retard., macrocephal, imperfor. anus, corp. call. agen.] (MED12)
- Pallister-Hall syndrome (GLI3)
- STAR syndrome; toe Syndactyly, Telecanthus, Anogenital + Renal malformations (CCNQ)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Townes-Brocks syndrome 1 (SALL1)
- Townes-Brocks syndrome 2 (DACT1)
- VACTERL association with hydrocephalus (FANCB)
- VACTERL association, XL (ZIC3)
- VATER/VACTERL assoc., Alveolar capillary dysplasia + misalignment of pulmonary veins (FOXF1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR und/oder Sus
- AD und/oder Dig und/oder Sus
- AR
- XLD
- XLR
- XLR und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D12.9
Bioinformatik und klinische Interpretation
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