IllnessVasculopathy, retinal, with cerebral Leukencephalopathy + systemic manifestations

Summary

Short information

Comprehensive differential diagnostic panel for Vasculopathy, retinal, with cerebral Leukencephalopathy + systemic manifestations comprising 1 or altogether 13 curated genes according to the clinical signs

RP5550

Number of genes

13 Accredited laboratory test

Examined sequence length

1,0 kb (Core-/Core-canditate-Genes)
35,1 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	Heredity
TREX1	945	606609	AD, AR
CTLA4	525	123890	AD
CTSA	1497	613111	AR
DNASE1	849	125505	Sus
FCGR2A	954	146790	n.k.
FCGR2B	873	604590	AD
GLA	1290	300644	XL, Mult
HTRA1	1443	602194	AD
NF1	8457	613113	AD
NOTCH3	6966	600276	AD
PTPN22	2340	600716	AR
TSC1	3495	605284	AD
TSC2	5424	191092	AD

Informations about the disease

Synonyms

Allelic: Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
Allelic: Autoimmune lymphoproliferative syndrome, type V (CTLA4)
Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
Allelic: Chilblain lupus (TREX1)
Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
Allelic: Diabetes, type 1, susceptibility to (PTPN22)
Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
Allelic: Hashimoto thyroiditis (CTLA4)
Allelic: Lateral meningocele syndrome (NOTCH3)
Allelic: Leukemia, juvenile myelomonocytic (NF1)
Allelic: Lymphangioleiomyomatosis (TSC1)
Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
Allelic: Macular degeneration, age-related, 7 (HTRA1)
Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
Allelic: Malaria, resistance to (FCGR2B)
Allelic: Malaria, severe, susceptibility to (FCGR2A)
Allelic: Myofibromatosis, infantile 2 (NOTCH3)
Allelic: Neurofibromatosis, familial spinal (NF1)
Allelic: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis (FCGR2A)
Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
Allelic: Watson syndrome (NF1)
CARASIL syndrome (HTRA1)
Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
Fabry disease (GLA)
Fabry disease, cardiac variant (GLA)
Galactosialidosis (CTSA)
Lupus nephritis, susceptibility to (FCGR2A)
Neurofibromatosis, type 1 (NF1)
Neurofibromatosis-Noonan syndrome (NF1)
Systemic lupus erythematosus susceptibility to (PTPN22)
Systemic lupus erythematosus, susceptibility to (CTLA4)
Systemic lupus erythematosus, susceptibility to (DNASE1)
Systemic lupus erythematosus, susceptibility to (FCGR2B)
Systemic lupus erythematosus, susceptibility to (TREX1)
Tuberous sclerosis-1 (TSC1)
Tuberous sclerosis-2 (TSC2)
Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)

Heredity, heredity patterns etc.

AD
AR
Mult
Sus
XL
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

M31.8

Bioinformatics and clinical interpretation

No text defined