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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGlaucoma, infantile; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for infantile glaukoma containing 9 core/core candidtae genes and altogether 25 curated genes according to the clinical signs

ID
GP0110
Number of genes
20 Accredited laboratory test
Examined sequence length
22,4 kb (Core-/Core-canditate-Genes)
55,2 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-GReferenz-Seq.Heredity
ADAMTS103312NM_030957.4AR
ADAMTS173288NM_139057.4AR
CYP1B11632NM_000104.4AR
FOXC11662NM_001453.3AD
LTBP25466NM_000428.3AR
MYOC1515NM_000261.2AD
PAX61269NM_000280.5AD
PITX2816NM_153427.2AD
TEK3375NM_000459.5AD
CPAMD85983NM_015692.5AR
DDX582778NM_014314.4AD
FOXE3960NM_012186.3AR
GJA11149NM_000165.5AD
LMX1B1188NM_002316.4AD
LOXL11725NM_005576.4AD
NF18457NM_001042492.3AD
NTF4633NM_006179.4AD
OCRL2706NM_000276.4XLR
OPTN1734NM_021980.4Sus
SBF25550NM_030962.4AR

Informations about the disease

Clinical Comment

Glaucoma is a heterogenous group of diseases that irreversibly damage the optic nerve, leading to vision loss, ultimately, if untreated, blindness; genetic factors a key role in all major forms of glaucoma.

 

Synonyms
  • Allelic: Autoimmune disease, susceptibility to, 1 (FOXD3)
  • Allelic: Venous malformations, multiple cutaneous + mucosal (TEK)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Allelic: Amyotrophic lateral sclerosis 12 with/-out frontotemporal dementia (OPTN)
  • Allelic: Cataract 11, multiple types (PITX3)
  • Allelic: Cataract 11, syndromic, AR (PITX3)
  • Allelic: Cataract 40, XL (NHS)
  • Allelic: Corneal dystrophy, Fuchs endothelial, 4 (SLC4A11)
  • Allelic: Deafness, AD 23 (SIX1)
  • Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
  • Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
  • Allelic: Nail-patella syndrome (LMX1B)
  • Allelic: Watson syndrome (NF1)
  • Anterior segment dysgenesis 1, multiple subtypes (PITX3)
  • 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 6, multiple subtypes (CYP1B1)
  • Anterior segment dysgenesis 8 (CPAMD8)
  • Axenfeld-Rieger syndrome, type 1 (PITX2)
  • Axenfeld-Rieger syndrome, type 3 (FOXC1)
  • Branchiootic syndrome 3 (SIX1)
  • Capillary malformations, congenital, 1, somatic, mosaic (GNAQ)
  • Charcot-Marie-Tooth disease, type 4B2 (SBF2)
  • Corneal endothelial dystrophy + perceptive deafness (SLC4A1)
  • Corneal endothelial dystrophy, AR (SLC4A11)
  • Dent disease 2 (OCRL)
  • Denys-Drash syndrome (WT1)
  • Exfoliation syndrome, susceptibility to (LOXL1)
  • Frank-ter Haar syndrome (SH3PXD2B)
  • Frasier syndrome (WT1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
  • Glaucoma 1, open angle, 1O (NTF4)
  • Glaucoma 1, open angle, E (OPTN)
  • Glaucoma 1, open angle, G (WDR36)
  • Glaucoma 1A, primary open angle (MYOC)
  • Glaucoma 3, primary congenital (LTBP2)
  • Glaucoma 3, primary congenital, E (TEK)
  • Glaucoma 3A, primary open angle, congenital/juvenile/adult onset (CYP1B1)
  • Glaucoma, normal tension, susceptibility to (OPTN)
  • Lipodystrophy, congenital generalized, type 3 (CAV1)
  • Lowe syndrome (OCRL)
  • Meacham syndrome (WT1)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Nance-Horan syndrome (NHS)
  • Nephrotic syndrome, type 4 (WT1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Oculodentodigital dysplasia (GJA1)
  • Oculodentodigital dysplasia, AR (GJA1)
  • Peters-plus syndrome (B3GLCT)
  • Pulmonary hypertension, primary, 3 (CAV1)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Singleton-Merten syndrome 1 (IFIH1)
  • Singleton-Merten syndrome 2 (DDX58)
  • Spinocerebellar ataxia 38 (ELOVL5)
  • Sturge-Weber syndrome, somatic, mosaic (GNAQ)
  • Weill-Marchesani syndrome 1, AR (ADAMTS10)
  • Weill-Marchesani syndrome 4, AR (ADAMTS17)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined