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ErkrankungAlopezie, syndromal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Alopezie, syndromal, mit zusammen genommen 38 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP9948
Anzahl Gene
29 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
58,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AIRE1638AD und/oder AR
ALX41236AD und/oder AR
ASL1395AR
BTD1572AR
DCAF171563AR
EBP693XL
EDA1176XLD und/oder XLR und/oder Dig
EDAR1347AD und/oder AR
EDARADD648AD und/oder AR
EDNRA1284AD und/oder Mult
FAM111B2115AD
FLNA7920XL
FOXN11947AR
FOXP31296XLR
GJB6786AD und/oder AR und/oder Dig
HLCS2181AR
HTRA11443AD und/oder AR und/oder Mult
KLHL241975AD
LMNA1995AD und/oder AR und/oder Dig
NSDHL1122XL
OFD13039XL
PNPLA63984AR
PORCN1386XLD
RBM282280AR
RECQL43628AR
RIN22688AR
RIPK42355AR
TP632043AD und/oder Sus
WNT10A1254AD und/oder AR und/oder Dig und/oder Sus

Infos zur Erkrankung

Synonyme
  • ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (ARAllelic: Hypospadias 1, XL (AR)
  • Allelic: Dermatitis, atopic, susceptibility to, 2 (FLG)
  • Allelic: Diabetes, type 1, susceptibility to (PTPN22)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Osteogenesis imperfecta, type XIX (MBTPS2)
  • Allelic: Prostate cancer, susceptibility to (AR)
  • Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
  • Allelic: Schizophrenia, susceptibility to (MTHFR)
  • Allelic: Spinal + bulbar muscular atrophy of Kennedy (AR)
  • Allelic: Thromboembolism, susceptibility to (MTHFR)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • Alopecia, neurologic defects + endocrinopathy syndrome (RBM28)
  • Androgenetic alopecia [medline plus] (AR)
  • Argininosuccinic aciduria (ASL)
  • Autoimmune polyendocrinopathy syndrome , type I, with /-out reversible metaphyseal dysplasia (AIRE)
  • Biotinidase deficiency (BTD)
  • CARASIL syndrome (HTRA1)
  • CHILD syndrome [Cong. Hemidysplasia, Ichythyosiform erythrodema + Limb Defects] (NSDHL)
  • Chondrodysplasia punctata, XLD (EBP)
  • Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Ectodermal dysplasia 1, hypohidrotic, XLR (EDA)
  • Ectodermal dysplasia 10A, hypohidrotic/hair/tooth type, AD (EDAR)
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR (EDAR)
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD (EDARADD)
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR (EDARADD)
  • Ectodermal dysplasia 2, Clouston type (GJB6)
  • Epidermolysis bullosa simplex, generalized, with scarring + hair loss (KLHL14)
  • Focal dermal hypoplasia (PORCN)
  • Frontonasal dysplasia 2 (ALX4)
  • Hay-Wells syndrome [ankyloblepharon-ectodermal defects-cleft lip/palate] (TP63)
  • Holocarboxylase synthetase deficiency (HLCS)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Hutchinson-Gilford progeria (LMNA)
  • Hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD, WNT10A)
  • IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
  • Ichthyosis vulgaris (FLG)
  • Ichthyosis, congenital, AR 13 (SDR9C7)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Incontinentia pigmenti (IKBKG)
  • Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
  • Macrocephaly, alopecia, cutis laxa + scoliosis (RIN2)
  • Mandibulofacial dysostosis with alopecia (EDNRA)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Olmsted syndrome, XL (MBTPS2)
  • Orofaciodigital syndrome I (OFD1)
  • Parietal foramina 2 (ALX4)
  • Poikiloderma, hered. fibrosing, with tendon contract., myopathy, pulmonary fibrosis (FAM111B)
  • Popliteal pterygium syndrome, Bartsocas-Papas type 1 (RIPK4)
  • Rapp-Hodgkin syndrome [anhidrotic ectodermal dysplasia + cleft lip/palate] (TP63)
  • Rickets, vitamin D-resistant, type IIA (VDR)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Systemic lupus erythematosus susceptibility to (PTPN22)
  • T-cell immunodeficiency, congenital alopecia + nail dystrophy (FOXN1)
  • Terminal osseous dysplasia (FLNA)
  • Woodhouse-Sakati syndrome (DCAF17)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Mult
  • AD und/oder Mult
  • AD und/oder Sus
  • AR
  • XL
  • XLD
  • XLD und/oder XLR und/oder Dig
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
L65.8

Bioinformatik und klinische Interpretation

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