IllnessCongenital fibrosis of extraocular muscles, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for congenital fibrosis of extraocular muscles comprising 10 or 22 curated genes according to the clinical signs
ID
FP0810
Number of genes
13
Accredited laboratory test
Examined sequence length
18,2 kb (Core-/Core-canditate-Genes)
20,6 kb (Extended panel: incl. additional genes)
20,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
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 | AR | |
MYF5 | 768 | NM_005593.3 | AR | |
MYMK | 671 | NM_001080483.3 | AR |
Informations about the disease
Clinical Comment
Disorder of the nervous system that affects use of the muscles that surround the eyes
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H49.3
Bioinformatics and clinical interpretation
No text defined