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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessAnophthalmia, microphthalmia: differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Anophthalmia/ Microphthalmia comprising 17 or 65 curated genes according to the clinical signs

ID
AP0740
Number of genes
55 Accredited laboratory test
Examined sequence length
24,6 kb (Core-/Core-canditate-Genes)
156,9 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-GHeredity
ALDH1A31539AR
BCOR5166XLD
BMP41227AD
FOXE3960AR
GDF31095AD
GDF61368AD
HCCS807XLD
MFRP1740AR
OTX2870n.k.
PAX61269AD
RAX1041AR
SHH1389AD
SIX6741AR
SMOC11308AR
SOX2954AD
STRA62004AR
VSX21086AR
ABCB62529AD
ATOH7459AR
BMP71296AD
C12orf57381AR
CHD78994AD
COL4A15010AD, Mult
CRYBA4591AD
FAT113767AR
FOXC11662AD
FRAS112039AR
FREM16540AR
FREM29510AR
GRIP13231AR
HESX1558AD, AR
HMGB3603XL
KMT2D16614AD
MAB21L21080AD, AR
MYRF3506AD
NAA10663XL
NHS4425XL
PAX21254AR
PITX2816AD
PORCN1386XLD
PQBP1798AR
PRSS561812AR
PXDN4440AR
RAB18621AR
RAB3GAP12946XLR
RAB3GAP24182AR
RARB1347Gen Fusion
SALL23024AD
SMO2364AD
TBC1D201212AD
TENM38100AR
TFAP2A1296AD
TMEM98681AR
VAX11005AR
YAP11515AR

Informations about the disease

Clinical Comment

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

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • Mult
  • XL
  • XLD
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q11.-

Bioinformatics and clinical interpretation

No text defined