Klinische FragestellungAlopezie, syndromal; Differentialdiagnose

NGS +

• 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)