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Nanophthalmos

Disease Export to PDF
Name:
Nanophthalmos
Description:
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
ORPHAcode:
35612
Synonyms:
Nanophthalmia
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
OMIM
OMIM
OMIM
Analyte(s):
MFRP
TMEM98
OTX2
SIX6
RAX
ALDH1A3
PRSS56
SOX2
BEST1
CRB1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Glaucoma - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS10 99.99 1
    ADAMTS17 99.99 1
    B3GLCT 99.90 1
    BEST1 99.86 1
    COL18A1 99.99 1
    COL4A1 99.99 1
    CPAMD8 99.97 1
    CREBBP 99.97 1
    CYP1B1 100.00 1
    RIGI 99.84 1
    FBN1 99.85 1
    FOXC1 100.00 1
    FOXD3 99.85 1
    FOXE3 99.29 1
    GJA1 100.00 1
    IFIH1 99.84 1
    LMX1B 100.00 1
    LTBP2 99.97 1
    MYOC 99.98 1
    NTF4 100.00 1
    OCRL 99.89 1
    OPTN 99.98 1
    PAX6 99.95 1
    PITX2 99.98 1
    PITX3 100.00 1
    SBF2 99.77 1
    SH3PXD2B 100.00 1
    TBK1 99.07 1
    TEK 99.98 1
    WDR36 99.46 1
    ASB1 99.98 1
  • Leber - Retinal, early onset
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIPL1
    CEP290
    CRB1
    CRX
    GUCY2D
    IQCB1
    LCA5
    LRAT
    NMNAT1
    RDH12
    RPE65