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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
31 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
62,2 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-GReferenz-Seq.Heredity
AIRE1638NM_000383.4AD, AR
ALX41236NM_021926.4AD, AR
ASL1395NM_000048.4AR
BTD1572NM_001370658.1AR
DCAF171563NM_025000.4AR
EBP693NM_006579.3XL
EDA1176NM_001399.5XLR
EDAR1347NM_022336.4AD, AR
EDARADD648NM_145861.4AD, AR
EDNRA1284NM_001957.4AD
FAM111B2115NM_001142703.2AD
FLNA7920NM_001456.4XL
FOXN11947NM_003593.3AR
FOXP31296NM_014009.4XLR
GJB6786NM_006783.5AD, AR, digenisch
HLCS2181NM_000411.8AR
HTRA11443NM_002775.5n.k.
KLHL241975NM_017644.3AD
LMNA1995NM_170707.4n.k.
MBTPS21560NM_015884.4XLR
NSDHL1122NM_015922.3XL
OFD13039NM_003611.3XL
PMS22589NM_000535.7Sus, AR
PNPLA63984NM_006702.5AR
PORCN1386NM_203475.3XL
RBM282280NM_018077.3AR
RECQL43628NM_004260.4AR
RIN22688NM_018993.4AR
RIPK42355NM_020639.3AR
TP632043NM_003722.5AD
WNT10A1254NM_025216.3AR

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
  • Sus
  • XL
  • XLR
  • digenisch
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined