English
Klinische FragestellungHypertrichosis, konnatal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für konnatale Hypertrichose mit 6 bzw. insgesamt 19 kuratierten Genen gemäß des klinischen Verdachts
ID
HP8888
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 14 |
Untersuchte Sequenzlänge
26,2 kb (Core-/Core-canditate-Gene)
61,9 kb (Erweitertes Panel: inkl. additional genes)
61,9 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 |
|---|---|---|---|---|
| ARID1B | 6750 | NM_001374820.1 | AD | |
| HDAC8 | 1134 | NM_018486.3 | XL | |
| NIPBL | 8415 | NM_133433.4 | AD | |
| SMARCA4 | 5040 | NM_001128849.3 | AD | |
| SMARCB1 | 1158 | NM_003073.5 | AD | |
| SMC1A | 3702 | NM_006306.4 | XL | |
| ABCA5 | 4929 | NM_018672.5 | AR | |
| ABCC9 | 4650 | NM_005691.4 | AD | |
| ARID1A | 6858 | NM_006015.6 | AD | |
| KMT2A | 11919 | NM_001197104.2 | AD | |
| RAD21 | 1896 | NM_006265.3 | AD | |
| SMARCE1 | 1236 | NM_003079.5 | AD | |
| SMC3 | 3654 | NM_005445.4 | AD | |
| TWIST2 | 483 | NM_001271893.4 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Werewolf syndrome
- Allelic: Ablepharon-macrostomia syndrome (TWIST2)
- Allelic: Atrial fibrillation, familial, 12 (ABCC9)
- Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
- Allelic: Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
- Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
- Allelic: Intellectual developmental disorder, AD 29 (SETBP1)
- Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
- Allelic: Intellectual disability and myopathy syndrome (ABCC9)
- Allelic: Meningioma, familial, susceptibility to (SMARCE1)
- Allelic: Mungan syndrome (RAD21)
- Allelic: Panhypopituitarism, XL (SOX3)
- Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
- Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
- Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
- Allelic: Temple-Baraitser syndrome (KCNH1)
- Barber-Say syndrome (TWIST2)
- Coffin-Siris syndrome 1 (ARID1B)
- Coffin-Siris syndrome 2 (ARID1A)
- Coffin-Siris syndrome 3 (SMARCB1)
- Coffin-Siris syndrome 4 (SMARCA4)
- Coffin-Siris syndrome 5 (SMARCE1)
- Cornelia de Lange syndrome 1 (NIPBL)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 4 (RAD21)
- Cornelia de Lange syndrome 5 (HDAC8)
- Hypertrichosis, congenital generalized, with gingival hyperplasia (ABCA5)
- Hypertrichosis, generalised congenital, type Macias-Flores [orphanet] (SOX3)
- Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
- Schinzel-Giedion midface retraction syndrome (SETBP1)
- Wiedemann-Steiner syndrome (KMT2A)
- Zimmermann-Laband syndrome 1 (KCNH1)
- Zimmermann-Laband syndrome 2 (ATP6V1B2)
- Zimmermann-Laband syndrome 3 (KCNN3)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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