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ErkrankungRetinitis pigmentosa, syndromal

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Retinitis pigmentosa, syndromal, mit 127 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP0873
Anzahl Gene
89 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
260,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABHD121197AR
ACO22343AR
ADGRV118921AD und/oder AR
AHI13591AR
ALMS112504AR
ARL2BP492AR
ARL6561AR und/oder Dig
BBS11782AR und/oder Dig
BBS102172AR
BBS122133AR
BBS22166AR und/oder Dig
BBS41560AR
BBS51026AR
BBS72148AR und/oder Dig
BBS92664AR
CC2D2A4863AR
CEP1644383AR
CEP2907440AR und/oder Dig
CEP782216AR
CFAP418624AR
CLN51077AR
CLN6936AR
CLN8861AR
CLRN1699AR
CNNM42328AR
COL18A14560AR
COL4A15010AD und/oder Mult
CSPP13666AR
CTSD1239AR
CWC271883AR
DHDDS900AD und/oder AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
FLVCR11668AR
HARS11530AD und/oder AR
HMX11047AR
IFT1404389AR
IFT27558AR
INPP5E1945AR
IQCB11797AR
KIF113171AD
KLHL71761AD und/oder AR
LRP213968AR
LZTFL1900AR
MFSD81557AR
MKKS1713AR und/oder Dig
MKS11680AR
MYO7A6648AD und/oder AR und/oder Dig
NDP402XLR
NPHP12202AR
NPHP33993AR
NPHP44281AR
NR2E31234AD und/oder AR
OAT1320AR
OFD13039XL
OTX2870AD
PANK21713AR
PCDH155868AR und/oder Dig
PCYT1A1104AR
PEX13852AR
PEX2918AR
PEX7972AR
PHYH1017AR
PPT1921AR
PRPS1957XLR
RBP4606AD und/oder AR
RCBTB11596AD und/oder AR
RGS92025AR
RHO1047AD und/oder AR
RPE651602AD und/oder AR
RPGR2448XL
RPGRIP1L3948AR
SCAPER4203AR
SDCCAG82142AR
SLC38A81308AR
TMEM2371227AR
TPP11692AR
TTC81518AR
TUB1686AR
TUBGCP65460AR
USH1C1659AR und/oder Dig
USH1G1386AR
USH2A15609AR
VCAN1968AD
VPS13B12069AR
WDPCP2241AR
WDR194029AR
WHRN2724AR
ZNF4233675AR

Infos zur Erkrankung

Klinischer Kommentar

Retinitis Pigmentosa (RP) ist die häufigste Form einer erblichen Netzhautdystrophie, die durch eine Photorezeptoren-Degeneration gekennzeichnet ist. RP manifestiert sich mit anfänglicher Nachtblindheit und Tunnelblick, gefolgt von einem sekundären Verlust von Zapfen-Photorezeptoren, der zur verminderten Sehschärfe und Makula-Degeneration führt. Der Beginn und das Fortschreiten der RP sowie der Schweregrad der Symptome können zwischen den Patienten deutlich variieren, selbst innerhalb derselben Familie. In mehr als die Hälfte aller Patienten wird autosomal-rezessiv vererbte RP identifiziert. Beinahe je 100 verschiedene, autosomal rezessiv und dominant vererbte isolierte RP-Formen sind derzeit bekannt. RP tritt weniger häufig als Teil von Syndromen auf, die andere Organe und Gewebe im Körper betreffen. Die häufigste Form der syndromischen Retinitis pigmentosa ist das Usher-Syndrom, die Kombination von Seh- und Hörverlust (mit Gleichgewichtstörungen), die meist früh beginnt. RP ist auch ein Merkmal mehrerer anderer genetischer Syndrome, wie z.B. des Bardet-Biedl Syndroms, des Morbus Refsum und des Stickler Syndroms. Es besteht häufig unterschiedliche klinische Ausprägung. Ein unauffälliger genetischer Befund bedeutet keinen Ausschluss der klinischen Verdachtsdiagnose.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1417/

 

Synonyme
  • Alias: Retinopathia pigmentosa, syndromal
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Arterial calcification, generalized, of infancy, 2 (ABCC6)
  • Allelic: Bile acid synthesis defect, congenital, 4 (AMACR)
  • Allelic: Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
  • Allelic: Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Immunodeficiency 33 (IKBKG)
  • Allelic: Metabolic syndrome, protection against (MTTP)
  • Allelic: Nephronophthisis 1, juvenile (NPHP1)
  • Allelic: Optic atrophy 9 (ACO2)
  • Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
  • Allelic: Sideroblastic anemia, B-cell immunodeficiency, periodic fevers, development delay (TRNT1)
  • Allelic: Spermatogenic failure 58 (IFT74)
  • Allelic: Type 2 diabetes mellitus, susceptibility to (NEUROD1)
  • Abetalipoproteinemia (MTTP)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Alstrom syndrome (ALMS1)
  • Arts syndrome (PRPS1)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Autoimmune polyendocrinopathy syndrome, type I, +/- reversible metaphyseal dysplasia (AIRE)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 11 (TRIM32)
  • Bardet-Biedl syndrome 12 (BBS12)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 15 (WDPCP)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bardet-Biedl syndrome 17 (LZTFL1)
  • Bardet-Biedl syndrome 18 (BBIP1)
  • Bardet-Biedl syndrome 19 (IFT27)
  • Bardet-Biedl syndrome 2 (BBS2)
  • Bardet-Biedl syndrome 21 (C8orf37)
  • Bardet-Biedl syndrome 22 (IFT74)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 4 (BBS4)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 7 (BBS7)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Bardet-Biedl syndrome 9 (BBS9)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Bradyopsia (RGS9)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4A (Kufs type), AR (CLN6)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Cohen syndrome (VPS13B)
  • Cone-rod dystrophy and hearing loss (CEP78)
  • Cone-rod dystrophy and hearing loss 2 (CEP250)
  • Congenital disorder of glycosylation, type 1bb (DHDDS)
  • Donnai-Barrow syndrome (LRP2)
  • Ectodermal dysplasia, ectrodactyly + macular dystrophy (CDH3)
  • Enhanced S-cone syndrome (NR2E3)
  • Foveal hypoplasia 2, with/-out optic nerve misrouting and/or anterior segment dysgenesis (SLC38A8)
  • Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
  • HARP syndrome (PANK2)
  • Hardikar syndrome (MED12)
  • Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
  • Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
  • Incontinentia pigmenti (IKBKG)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
  • Jalili syndrome (CNNM4)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 35 (ARL3)
  • Joubert syndrome 39 (TMEM218)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 40 (IFT74)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 8 (ARL13B)
  • Joubert syndrome 9 (CC2D2A)
  • Knobloch syndrome, type 1 (COL18A1)
  • Laurence-Moon syndrome (PNPLA6)
  • Linear skin defects with multiple congenital anomalies 1 (HCCS)
  • Lujan-Fryns syndrome (MED12)
  • Macular dystrophy with central cone involvement (MFSD8)
  • Maturity-onset diabetes of the young 6 (NEUROD1)
  • Meckel syndrome 11 (TMEM231)
  • Meckel syndrome 2 (TMEM216)
  • Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
  • Microcephaly + chorioretinopathy, AR, 2 (PLK4)
  • Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
  • Microcephaly and chorioretinopathy, AR, 1 (TUBGCP6)
  • Microcephaly with or without chorioretinopathy, lymphedema or mental retardation (KIF11)
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (KIF11)
  • Microcornea, myopic chorioretinal atrophy, telecanthus (ADAMTS18)
  • Morbid obesity and spermatogenic failure (CEP19)
  • Mucolipidosis III gamma (GNPTG)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
  • Myopathy, mitochondrial, and ataxia (MSTO1)
  • Nephronophthisis 13 (WDR19)
  • Nephronophthisis 14 (ZNF423)
  • Nephronophthisis 15 (CEP164)
  • Nephronophthisis 2, infantile (INVS)
  • Nephronophthisis 3 (NPHP3)
  • Nephronophthisis 4 (NPHP4)
  • Norrie disease (NDP)
  • Oculoauricular syndrome (HMX1)
  • Ohdo syndrome, XL (MED12)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Opitz-Kaveggia syndrome (MED12)
  • PERCHING syndrome (KLHL7)
  • Peroxisome biogenesis disorder 1A, Zellweger (PEX1)
  • Peroxisome biogenesis disorder 4A, Zellweger (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A, Zellweger (PEX2)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Persistent hyperplastic primary vitreous, AR (ATOH7)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Pseudoxanthoma elasticum (ABCC6)
  • ROSAH syndrome (ALPK1)
  • Refsum disease (PHYH)
  • Retinal dystrophy + obesity (TUB)
  • Retinal dystrophy with leukodystrophy (ABCD5)
  • Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
  • Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
  • Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
  • Retinal dystrophy, juvenile cataracts + short stature syndrome (RDH11)
  • Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
  • Retinitis pigmentosa 4, AD/AR (RHO)
  • Retinitis pigmentosa 7 + digenic form (PRPH2)
  • Retinitis pigmentosa 76 (POMGNT1)
  • Retinitis pigmentosa 80 (IFT140)
  • Retinitis pigmentosa 83 (ARL3)
  • Retinitis pigmentosa 87 with choroidal involvement (RPE65)
  • Retinitis pigmentosa with/-out situs inversus (ARL2BP)
  • Retinitis pigmentosa with/-out skeletal anomalies (CWC27)
  • Retinitis pigmentosa, XL + sinorespiratory infections, with/-out deafness (RPGR)
  • Senior-Loken syndrome 1 (NPHP1)
  • Senior-Loken syndrome 4 (NPHP4)
  • Senior-Loken syndrome 5 (IQCB1)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly [+ retinal pigment dystrophy] (IFT140)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 39, AR (PNPLA6)
  • Spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A)
  • Stickler syndrome, type IV (COL9A1)
  • Usher syndrome, type 1B (MYO7A)
  • Usher syndrome, type 1C (USH1C)
  • Usher syndrome, type 1D/F digenic (PCDH15)
  • Usher syndrome, type 1F (PCDH15)
  • Usher syndrome, type 1G (USH1G)
  • Usher syndrome, type 2A (USH2A)
  • Usher syndrome, type 2C (ADGRV1)
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
  • Usher syndrome, type 2D (WHRN)
  • Usher syndrome, type 3A (CLRN1)
  • Usher syndrome, type 3B (HARS)
  • Usher syndrome, type IJ (CIB2)
  • Wagner syndrome 1 (VCAN)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder Mult
  • AR
  • AR und/oder Dig
  • AR und/oder Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H35.5

Bioinformatik und klinische Interpretation

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