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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessAlopecia, syndromal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Alopecia, syndromal, comprising altogether 38 curated genes according to the clinical signs

ID
AP9948
Number of genes
29 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
58,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AIRE1638AD, AR
ALX41236AD, AR
ASL1395AR
BTD1572AR
DCAF171563AR
EBP693XL
EDA1176XLD, XLR, digenisch
EDAR1347AD, AR
EDARADD648AD, AR
EDNRA1284AD
FAM111B2115AD
FLNA7920XL
FOXN11947AR
FOXP31296XLR
GJB6786AD, AR, digenisch
HLCS2181AR
HTRA11443n.k.
KLHL241975AD
LMNA1995n.k.
NSDHL1122XL
OFD13039XL
PNPLA63984AR
PORCN1386XLD
RBM282280AD
RECQL43628AR
RIN22688n.k.
RIPK42355AR
TP632043AD
WNT10A1254AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLD
  • XLR
  • digenisch
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
L65.8

Bioinformatics and clinical interpretation

No text defined