Klinische FragestellungFibrose der äußeren Augenmuskeln, kongenitale; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für kongenitale Fibrose der äußeren Augenmuskeln mit 10 bzw. 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
FP0810
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,2 kb (Core-/Core-canditate-Gene)
20,6 kb (Erweitertes Panel: inkl. additional genes)
20,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
CHN1 | 1302 | NM_001025201.4 | AD | |
COL25A1 | 1938 | NM_001256074.3 | AR | |
HOXA1 | 1008 | NM_005522.5 | AR | |
HOXB1 | 906 | NM_002144.4 | AR | |
KIF21A | 4914 | NM_001173463.2 | AD | |
PHOX2A | 855 | NM_005169.4 | AR | |
SALL4 | 3162 | NM_020436.5 | AD | |
TUBA1A | 1356 | NM_006009.4 | AD | |
TUBB2B | 1338 | NM_178012.5 | AD | |
TUBB3 | 1353 | NM_006086.4 | AD | |
MAFB | 972 | NM_005461.5 | AD | |
MYF5 | 768 | NM_005593.3 | AR | |
MYMK | 671 | NM_001080483.3 | AR |
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: Corneal dystrophy, posterior polymorphous, 4 (GRHL2)
- Allelic: Deafness, AD 28 (GRHL2)
- 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)
- Congenital fibrosis of extraocular muscles [MONDO:0007614] (GRHL2)
- 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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