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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAnorectal malformations, [non-]syndromic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for anorectal malformations comprising 11 core candidate genes and altogether 23 curated genes according to the clinical signs

ID
AP3339
Number of genes
14 Accredited laboratory test
Examined sequence length
27,5 kb (Core-/Core-canditate-Genes)
38,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CCNQ685NM_001130997.3XL
CDX1798NM_001804.3AD
FANCB2580NM_001018113.3XLR
FOXF11140NM_001451.3AD
GLI34743NM_000168.6AD
MED126534NM_005120.3XL
MID12004NM_000381.4XLR
RECQL43628NM_004260.4AR
SALL13975NM_002968.3AD
ZIC31404NM_003413.4XLR
CASK2766NM_003688.3XLR
CDX2942NM_001265.6AR
MYCN1395NM_005378.6AD
MYH145988NM_024729.4AD

Informations about the disease

Clinical Comment

Anorectal malformations comprise a broad spectrum, ranging from mild anal anomalies to complex cloacal malformations - 60% occur in the context of defined genetic syndromes or complex multiple congenital anomalies or in association with chromosomal aberrations; remaining 40% are isolated

 

Synonyms
  • Alias: Anal atresia
  • Alias: Non-syndromic familial congenital anorectal malformations
  • Allelic: Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)
  • Allelic: Baller-Gerold syndrome [craniosynostosis, radial aplasia] (RECQL4)
  • Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Allelic: Deafness, AD 4A (MYH14)
  • Allelic: Fanconi anemia, complementation group B (FANCB)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Heterotaxy, visceral, 1, XL (ZIC3)
  • Allelic: Hypothalamic hamartomas, somatic (GLI3)
  • Allelic: Lujan-Fryns syndrome [mental retardation, XL; marfanoid habitus] (MED12)
  • Allelic: Mental retardation + microcephaly with pontine +cerebellar hypoplasia (CASK)
  • Allelic: Mental retardation, with/-out nystagmus (CASK)
  • Allelic: Ohdo syndrome, XL [blepharophimosis, mental retardation] (MED12)
  • Allelic: Pallister-Hall syndrome (GLI3)
  • Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: RAPADILINO syndrome [radial + patellar aplasia/hypoplasia] (RECQL4)
  • Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Allelic: Rothmund-Thomson syndrome, type 2 [poikiloderma, cong. bone defects, osteosarc.] (RECQL4)
  • Anorectal malformation (CASK, CDX1, CDX2, FANCB, FOXF1, GLI3, MED12, MNX1, MYCN, MYH14, ZIC3)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Currarino syndrome (MNX1)
  • Currarino syndrome [part. sacral agenesis, presacral mass, anorectal malformation] (MNX1)
  • FG syndrome 4 (CASK)
  • Fanconi anemia, complementation group C (FANCC)
  • Feingold syndrome 1 (MYCN)
  • Helsmoortel-van der Aa syndrome (ADNP)
  • Intellectual developmental disorder, AD 70 (SETD2)
  • Kabuki syndrome 2 (KDM6A)
  • Luscan-Lumish syndrome (SETD2)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • 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)
  • Persistent cloaca (CDX2)
  • Rabin-Pappas syndrome (SETD2)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • STAR syndrome: toe Syndactyly, Telecanthus, Anogenital + Renal malformations (CCNQ syn. FAM58A)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
  • VACTERL association with hydrocephalus (FANCB)
  • VACTERL association, XL (ZIC3)
  • VATER/VACTERL, Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined