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ErkrankungFibrose der äußeren Augenmuskeln, kongenitale; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für kongenitale Fibrose der äußeren Augenmuskeln mit 10 bzw. 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP0810
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,2 kb (Core-/Basis-Gene)
20,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CHN11302AD
COL25A11938AR
HOXA11008AR
HOXB1906AR
KIF21A4914AD
PHOX2A855AR
SALL43162AD
TUBA1A1356AD
TUBB2B1338AD
TUBB31353AD
MAFB972AR
MYF5768AR
MYMK671AR

Infos zur Erkrankung

Klinischer Kommentar

Störung der Nerven/des Nervensystems, die/das den Gebrauch der Muskeln, die die Augen umgeben, beeinträchtigt/-en

 

Synonyme
  • Alias: Blepharoptosis with absent eye movements
  • Alias: Congenital fibrosis of extraocular muscles
  • Alias: Ophthalmoplegia, congenital
  • Allelic: Mitochondrial DNA depletion syndr. 8A, encephalomyopathic type + renal tubulopathy (RRM2B)
  • Allelic: Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, AD (SLC25A4)
  • Allelic: Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, AR (SLC25A4)
  • Allelic: Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
  • Allelic: Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
  • Allelic: Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Allelic: Mitochondrial DNA depletion syndrome 8B, MNGIE type (RRM2B)
  • Allelic: Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
  • Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Rod-cone dystrophy, sensorineural deafness, + Fanconi-type renal dysfunction (RRM2B)
  • Athabaskan brainstem dysgenesis syndrome (HOXA1)
  • Bosley-Salih-Alorainy syndrome (HOXA1)
  • Carey-Fineman-Ziter syndrome (MYMK)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Deafness, autosomal dominant 28 GRHL2)
  • Duane retraction syndrome 2 (CHN1)
  • Duane retraction syndrome 3 (MAFB)
  • Duane-radial ray syndrome (SALL4)
  • Ectodermal dysplasia/short stature syndrome (GRHL2)
  • Facial paresis, hereditary congenital, 3 (HOXB1)
  • Fibrosis of extraocular muscles, congenital (TUBB2B)
  • Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
  • Fibrosis of extraocular muscles, congenital, 2 (PHOX2A)
  • Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
  • Fibrosis of extraocular muscles, congenital, 5 (COL25A1)
  • IVIC syndrome (SALL4)
  • Lissencephaly 3 (TUBA1A)
  • Mitochondrial DNA depletion syndrome 2, myopathic type (TK2)
  • Mitochondrial DNA maintenance defect [genereviews] (TMPO)
  • Oculopharyngeal muscular dystrophy (PABPN1)
  • Ophthalmoplegia, external, with rib + vertebral anomalies (MYF5)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD (RRM2B)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H49.3

Bioinformatik und klinische Interpretation

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