English
Klinische FragestellungKindler-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kindler-Syndrom mit 1 Leitlinien-kuratierten und zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP4467
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 20 |
Untersuchte Sequenzlänge
2,1 kb (Core-/Core-canditate-Gene)
43,1 kb (Erweitertes Panel: inkl. additional genes)
43,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| FERMT1 | 2034 | NM_017671.5 | AR | |
| BLM | 4254 | NM_000057.4 | AR | |
| CTC1 | 3654 | NM_025099.6 | AR | |
| DDB2 | 1284 | NM_000107.3 | AR | |
| DKC1 | 1545 | NM_001363.5 | XLR | |
| ERCC1 | 972 | NM_202001.3 | AR | |
| ERCC2 | 2283 | NM_000400.4 | AR | |
| ERCC3 | 2349 | NM_000122.2 | AR | |
| ERCC4 | 2751 | NM_005236.3 | AR | |
| ERCC5 | 3561 | NM_000123.4 | AR | |
| FAM111B | 2115 | NM_001142703.2 | AD | |
| NHP2 | 273 | NM_001034833.2 | AR | |
| NOP10 | 195 | NM_018648.4 | AR | |
| POLH | 2142 | NM_006502.3 | AR | |
| RECQL4 | 3628 | NM_004260.4 | AR | |
| TERT | 3399 | NM_198253.3 | AR | |
| TINF2 | 1356 | NM_001099274.3 | AD | |
| WRAP53 | 1647 | NM_001143990.2 | AR | |
| XPA | 822 | NM_000380.4 | AR | |
| XPC | 2823 | NM_004628.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Haupttyp der Epidermolysis bullosa, neben simplex, junktional + dystrophisch, mit Hautbrüchigkeit + Blasenbildung bei der Geburt, gefolgt von Lichtempfindlichkeit + progressiven poikilodermatösen Hautveränderungen
Synonyme
- Alias/closely related: Kindler-Weary hereditary acrokeratotic poikiloderma
- Alias/closely related: Weary-Kindler syndrome
- Alias: Bullous akrokeratotic poikiloderma of Kindler + Weary
- Alias: Poikiloderma of Kindler
- Alias: Poikiloderma, congenital, with bullae, Weary type
- Alias: Poikiloderma, hereditary acrokeratotic
- Allelic: Blood group, Raph (CD151)
- Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
- Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
- Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
- Allelic: Trichothiodystrophy 2, photosensitive (ERCC3)
- Bloom syndrome (BLM)
- Cerebrooculofacioskeletal syndrome 2 (ERCC2)
- Cerebrooculofacioskeletal syndrome 3 (ERCC5)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Dyskeratosis congenita, AD 2 (TERT)
- Dyskeratosis congenita, AD 3 (TINF2)
- Dyskeratosis congenita, AD 4 (RTEL1)
- Dyskeratosis congenita, AD 6 (ACD)
- Dyskeratosis congenita, AR 1 (NOP10)
- Dyskeratosis congenita, AR 2 (NPH2)
- Dyskeratosis congenita, AR 3 (WRAP53)
- Dyskeratosis congenita, AR 4 (TERT)
- Dyskeratosis congenita, AR 5 (RTEL1)
- Dyskeratosis congenita, AR 6 (PARN)
- Dyskeratosis congenita, AR 7 (ACD)
- Dyskeratosis congenita, XL (DKC1)
- Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
- Kindler syndrome (FERMT1)
- Poikiloderma with neutropenia (USB1)
- Poikiloderma, hered. fibrosing, tendon contractures, myopathy, pulmonary fibrosis (FAM111B)
- Revesz syndrome (TINF2)
- Rothmund-Thomson syndrome, type 1 (ANAPC1)
- Rothmund-Thomson syndrome, type 2 (RECQL4)
- Xeroderma pigmentosum, group A (XPA)
- Xeroderma pigmentosum, group B (ERCC3)
- Xeroderma pigmentosum, group C (XPC)
- Xeroderma pigmentosum, group D (ERCC2)
- Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
- Xeroderma pigmentosum, group F (ERCC4)
- Xeroderma pigmentosum, group G (ERCC5)
- Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
- Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
- Xeroderma pigmentosum, variant type (POLH)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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