IllnessAnophthalmia, microphthalmia: differential diagnosis
Summary
Comprehensive differential diagnostic panel for Anophthalmia/ Microphthalmia comprising 17 or 65 curated genes according to the clinical signs
156,9 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
ALDH1A3 | 1539 | AR | |
BCOR | 5166 | XLD | |
BMP4 | 1227 | AD | |
FOXE3 | 960 | AR | |
GDF3 | 1095 | AD | |
GDF6 | 1368 | AD | |
HCCS | 807 | XLD | |
MFRP | 1740 | AR | |
OTX2 | 870 | n.k. | |
PAX6 | 1269 | AD | |
RAX | 1041 | AR | |
SHH | 1389 | AD | |
SIX6 | 741 | AR | |
SMOC1 | 1308 | AR | |
SOX2 | 954 | AD | |
STRA6 | 2004 | AR | |
VSX2 | 1086 | AR | |
ABCB6 | 2529 | AD | |
ATOH7 | 459 | AR | |
BMP7 | 1296 | AD | |
C12orf57 | 381 | AR | |
CHD7 | 8994 | AD | |
COL4A1 | 5010 | AD, Mult | |
CRYBA4 | 591 | AD | |
FAT1 | 13767 | AR | |
FOXC1 | 1662 | AD | |
FRAS1 | 12039 | AR | |
FREM1 | 6540 | AR | |
FREM2 | 9510 | AR | |
GRIP1 | 3231 | AR | |
HESX1 | 558 | AD, AR | |
HMGB3 | 603 | XL | |
KMT2D | 16614 | AD | |
MAB21L2 | 1080 | AD, AR | |
MYRF | 3506 | AD | |
NAA10 | 663 | XL | |
NHS | 4425 | XL | |
PAX2 | 1254 | AR | |
PITX2 | 816 | AD | |
PORCN | 1386 | XLD | |
PQBP1 | 798 | AR | |
PRSS56 | 1812 | AR | |
PXDN | 4440 | AR | |
RAB18 | 621 | AR | |
RAB3GAP1 | 2946 | XLR | |
RAB3GAP2 | 4182 | AR | |
RARB | 1347 | Gen Fusion | |
SALL2 | 3024 | AD | |
SMO | 2364 | AD | |
TBC1D20 | 1212 | AD | |
TENM3 | 8100 | AR | |
TFAP2A | 1296 | AD | |
TMEM98 | 681 | AR | |
VAX1 | 1005 | AR | |
YAP1 | 1515 | AR |
Informations about the disease
Group of disorders: Microphthalmia-anophthalmia-coloboma
ORPHA:1104 Anophthalmia plus syndrome
ORPHA:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome Keyword: Anophthalmia-heart and pulmonary anomalies-mental retardation syndr.
ORPHA:1102 Anophthalmia-hypothalamo-pituitary insufficiency syndrome
ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
ORPHA:98938 Colobomatous microphthalmia Synonym: Microphthalmia-anophthalmia-coloboma syndrome
ORPHA:2542 Isolated microphthalmia-anophthalmia-coloboma Synonym: Isolated anophthalmia-microphthalmia syndrome Keyword(s) : Primitive anophthalmia ; Microphthalmia-anophthalmia-coloboma spectrum
ORPHA:2470 Matthew-Wood syndrome Synonym: Anophthalmia-pulmonary hypoplasia syndrome
ORPHA:1106 Microphthalmia with limb anomalies Synonym: Waardenburg anophthalmia syndrome
ORPHA:98555 Microphthalmia-anophthalmia-coloboma Synonym: Anophthalmia-microphthalmia syndrome Keyword: Microphthalmia-anophthalmia-coloboma spectrum
ORPHA:35612 Nanophthalmos Synonym: Nanophthalmia
ORPHA:178364 Syndromic microphthalmia type 5 Synonym: Syndromic microphthalmia/anophthalmia due to OTX2 mutation
ORPHA:202948 Syndromic microphthalmia-anophthalmia-coloboma Keyword: Microphthalmia-anophthalmia-coloboma spectrum
- Alias: Anophthalmia-microphthalmia syndrome
- Alias: Anophthalmos, microphthalmos
- Alias: Microphthalmia-anophthalmia-coloboma
- Allelic: Aniridia (PAX6)
- Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
- Allelic: Basal cell nevus syndrome (PTCH1)
- Allelic: Bifid nose with/-out anorectal + renal anomalies (FREM1)
- Allelic: CHARGE [Coloboma, Heart anom., choanal Atresia, Retard., Genital/Ear anom.] syndrome (CHD7)
- Allelic: Cardiac-urogenital syndrome (MYRF)
- Allelic: Cataract 34, multiple type (FOXE3)
- Allelic: Cataract 40, XL (NHS)
- Allelic: Cataract with late-onset corneal dystrophy (PAX6)
- Allelic: Coloboma of optic nerve (PAX6)
- Allelic: Coloboma, ocular (PAX6)
- Allelic: Encephalitis/encephalopathy, mild, reversible myelin vacuolization (MYRF)
- Allelic: Facioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
- Allelic: Foveal hypoplasia 1 (PAX6)
- Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
- Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
- Allelic: Holoprosencephaly 3 (SHH)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Keratitis (PAX6)
- Allelic: Klippel-Feil syndrome 1, AD (GDF6)
- Allelic: Klippel-Feil syndrome 3, AD (GDF3)
- Allelic: Leber congenital amaurosis 17 (GDF6)
- Allelic: Linear skin defects with multiple congenital anomalies 1 (HCCS)
- Allelic: Morning glory disc anomaly (PAX6)
- Allelic: Multiple synostoses syndrome 4 (GDF6)
- Allelic: Nance-Horan [cataract-dental] syndrome (NHS)
- Allelic: Ogden syndrome [growth failure, delayed psychomotor development, dysmorphisms] (NAA10)
- Allelic: Optic disc anomalies with retinal and/or macular dystrophy (SIX6)
- Allelic: Optic nerve hypoplasia (PAX6)
- Allelic: Pallister-Hall-like syndrome (SMO)
- Allelic: Persistent hyperplastic primary vitreous, AR (ATOH7)
- Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
- Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
- Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
- Allelic: Ring dermoid of cornea (PITX2)
- Allelic: Schizencephaly (SHH)
- Allelic: Single median maxillary central incisor (SHH)
- Allelic: Temtamy syndrome [Ment. retard., craniofacial dysmorph., coloboma] (C13orf57)
- Allelic: Trigonocephaly 2 (FREM1)
- Anophthalmia (PAX6)
- Anophthalmia, microphthalmia (RAX, SIX6)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
- Anterior segment dysgenesis 4 (PITX2)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Anterior segment dysgenesis 7, with sclerocornea (PXDN)
- Axenfeld-Rieger syndrome, type 1 (PITX2)
- Axenfeld-Rieger syndrome, type 3 (FOXC1)
- BMP4-Related Syndromic Microphthalmia (BMP4)
- Bilateral microphthalmia, short stature + facial dysmorphism [panelapp] (OLFM2)
- Bosma arhinia microphthalmia syndrome (SMCHD1)
- Branchiooculofacial syndrome (TFAP2A)
- Cataract 9, multiple types (CRYAA)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Coloboma, ocular, AR (SALL2)
- Coloboma, ocular, with/-out hearing impairment, cleft lip/palate, mental retardation (YAP1)
- Colobomatous microphthalmia [panelapp] (FAT1)
- Curry-Jones syndrome, somatic mosaic (SMO)
- Focal dermal hypoplasia (PORCN)
- Fraser syndrome 3 [cryptophthalmus + other malformations] (GRIP1)
- Fraser syndrome [cryptophthalmus + other malformations] (FRAS1)
- Holoprosencephaly 7 (PTCH1)
- Isolated Microphthalmia (MFRP)
- Joubert syndrome 22 (PDE6D)
- Kabuki syndrome 1 (KMT2D)
- Manitoba oculotrichoanal syndrome (FREM1)
- Martsolf [cataract-mental retardation-hypogonadism] syndrome (RAB3GAP2)
- Microphthalmia with cataract 2 (SIX6)
- Microphthalmia with coloboma 3 (VSX2)
- Microphthalmia with coloboma 5 (SHH)
- Microphthalmia with coloboma 6 (GDF3)
- Microphthalmia with coloboma 6, digenic (GDF6)
- Microphthalmia with limb anomalies (SMOC1)
- Microphthalmia, Kabuki syndrome 1 (KMT2D)
- Microphthalmia, coloboma, micrognathia, diaphragmatic hernia [panelapp] (TMX3)
- Microphthalmia, isolated 2 (VSX2)
- Microphthalmia, isolated 3 (RAX)
- Microphthalmia, isolated 4 (GDF6)
- Microphthalmia, isolated 5 (MFRP)
- Microphthalmia, isolated 6 (PRSS56)
- Microphthalmia, isolated 7 (GDF3)
- Microphthalmia, isolated 8 (ALDH1A3)
- Microphthalmia, isolated, with coloboma 7 (ABCB6)
- Microphthalmia, isolated, with coloboma 8 (STRA6)
- Microphthalmia, isolated, with coloboma 9 (TENM3)
- Microphthalmia, syndromic 1 (NAA10)
- Microphthalmia, syndromic 11 (VAX1)
- Microphthalmia, syndromic 13 (HMGB3)
- Microphthalmia, syndromic 14 (MAB21L2)
- Microphthalmia, syndromic 15 (TENM3)
- Microphthalmia, syndromic 2 (BCOR)
- Microphthalmia, syndromic 3 (SOX2)
- Microphthalmia, syndromic 5 (OTX2)
- Microphthalmia, syndromic 6 (BMP4)
- Microphthalmia, syndromic 7 (HCCS)
- Microphthalmia, syndromic 9 (STRA6)
- Microphthalmia/coloboma + skeletal dysplasia syndrome (MAB21L2)
- Nanophthalmos 2 (NFRP)
- Nanophthalmos 4 (TMEM98)
- Nanophthalmos [panelapp] (MYRF)
- Nanophthalmos, high hyperopia (MYRF)
- OTX2-related syndromic microphthalmia 4 (OTX2)
- Oculogastrointestinal neurodevelopmental syndrome (CAPN15)
- Optic nerve hypoplasia and abnormalities of the central nervous system (SOX2)
- Orofaciodigital syndrome IX [panelapp] (SCLT1)
- Papillorenal [renal coloboma] syndrome (PAX2)
- Renpenning [mental retardation, XL syndromic] syndrome (PQBP1)
- Septooptic dysplasia [optic nerve hypopl., pituitary hypoplasia, midline brain anomalies] (HESX1)
- Warburg micro syndrome 1 (RAB3GAP1)
- Warburg micro syndrome 12 (RARB)
- Warburg micro syndrome 2 (RAB3GAP2)
- Warburg micro syndrome 3 (RAB18)
- Warburg micro syndrome 4 (TBC1D20)
- AD
- AR
- Gen Fusion
- Mult
- XL
- XLD
- XLR
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined