ErkrankungHypertrichosis, konnatal; Differentialdiagnose
Zusammenfassung
Kurzinformation
HP8888_KI
ID
HP8888
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,2 kb (Core-/Basis-Gene)
57,2 kb (Erweitertes Panel)
57,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
HP8888_DH
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ARID1B | 6750 | AD und/oder SMu und/oder Impr | |
HDAC8 | 1134 | XLD | |
NIPBL | 8415 | AD und/oder Impr | |
SMARCA4 | 5040 | AD und/oder SMu und/oder Impr | |
SMARCB1 | 1158 | AD und/oder SMu und/oder Sus und/oder Impr | |
SMC1A | 3702 | XLD und/oder Impr | |
ABCA5 | 4929 | AR | |
ARID1A | 6858 | AD und/oder SMu und/oder Sus und/oder Impr | |
KMT2A | 11919 | AD und/oder Gen Fusion und oder Impr | |
RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
SMARCE1 | 1236 | AD | |
SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
TWIST2 | 483 | AD und/oder AR |
Infos zur Erkrankung
Synonyme
- 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
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Impr
- AD und/oder Gen Fusion und oder Impr
- AD und/oder Impr
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus und/oder Impr
- AR
- XLD
- XLD und/oder Impr
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
L68.-
Bioinformatik und klinische Interpretation
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