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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOligodontia/anodontia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Oligodontia/anodontia comprising 11 core candidate genes and altogether 31 curated genes according to the clinical signs

ID
OP8222
Number of genes
19 Accredited laboratory test
Examined sequence length
19,3 kb (Core-/Core-canditate-Genes)
37,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AXIN22532NM_004655.4AD
EDA1176NM_001399.5XLR
EDARADD648NM_145861.4AD, AR
FGFR12469NM_023110.3AD
IRF61404NM_006147.4AD
LRP64842NM_002336.3AD
MSX1912NM_002448.3AD, AR
PAX91026NM_006194.4AD
PTH1R1782NM_000316.3AD, AR
WNT10A1254NM_025216.3AR, AD
WNT10B1170NM_003394.4AD
ANTXR11695NM_032208.3AR
DSP8616NM_004415.4AR
EDAR1347NM_022336.4AD, AR
GREM2509NM_022469.4AD
GRHL31671NM_198174.3AD
SUMO1306NM_003352.8isolierte Fälle
TP632043NM_003722.5AD
TSPEAR2010NM_144991.3AR

Informations about the disease

Clinical Comment

Congenital absence of permanent teeth is the most common congenital malformation in humans. Missing tooth Anlagen become evident during the interdentition phase and vary from single missing teeth (dental aplasia) to complete anodontia. The absence of <6 permanent teeth is termed hypodontia, and that of ≥6 or more missing permanent teeth is termed oligodontia. Missing tooth Anlagen can occur in isolation non-syndromically or in the context of numerous syndromic conditions, most commonly ectodermal dysplasia. Most often, the mode of inheritance in oligodontia and anodontia is autosomal dominant, less commonly autosomal recessive or X-linked. The diagnostic yield using molecular genetics is largely unknown.

(Referenz: https://reader.elsevier.com/reader/sd/pii/B9780128012383641132?token=45F55D6796DC313F6FD16818E5C9FD778BE8972634E58BE87699C98E2521648AE1032A1B2453DF6381F306293C8DD56E

 

Synonyms
  • Alias: Failure of tooth eruption
  • Allelic: Anterior segment dysgenesis 4 (PITX2)
  • Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Allelic: Cardiomyopathy, dilated, with woolly hair and keratoderma (DSP)
  • Allelic: Chondrodysplasia, Blomstrand type (PTH1R)
  • Allelic: Colorectal cancer, somatic (AXIN2)
  • Allelic: Corneal dystrophy, posterior polymorphous, 4 (GRHL2)
  • Allelic: Coronary artery disease, AD, 2 (LRP6)
  • Allelic: Deafness, AD 28 (GRHL2)
  • Allelic: Deafness, AR 98 (TSPEAR)
  • Allelic: Ectodermal dysplasia 1, hypohidrotic, XL (EDA)
  • Allelic: Ectodermal dysplasia 3, Witkop type (MSX1)
  • Allelic: Eiken syndrome (PTH1R)
  • Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Epithelial recurrent erosion dystrophy (COL17A1)
  • Allelic: Hair morphology 1, hair thickness (EDAR)
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Hemangioma, capillary infantile, susceptibility to (ANTXR1)
  • Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
  • Allelic: Orofacial cleft 5 (MSX1)
  • Allelic: Orofacial cleft 6 (IRF6)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Popliteal pterygium syndrome 1 (IRF6)
  • Allelic: Retinitis pigmentosa 23 I (OFD1)
  • Allelic: Ring dermoid of cornea (PITX2)
  • Allelic: Skin fragility-woolly hair syndrome (DSP)
  • Allelic: Split-hand/foot malformation 6 (WNT10B)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
  • Aplasia of lacrimal + salivary glands (FGF10)
  • Axenfeld-Rieger syndrome, type 1 (PITX2)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Dental anomalies + short stature (LTBP3)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Ectodermal dysplasia 10A + 10B, hypohidrotic/hair/nail type, AD + AR (EDAR)
  • Ectodermal dysplasia 11A + 11B, hypohidrotic/hair/tooth type, AD + AR (EDARADD)
  • Ectodermal dysplasia 13, hair/tooth type (KREMEN1)
  • Ectodermal dysplasia 14, hair/tooth type with/-out hypohidrosis (TSPEAR)
  • Ectodermal dysplasia/short stature syndrome (GRHL2)
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63)
  • Ellis-van Creveld syndrome (EVC, EVC2)
  • Epidermolysis bullosa, junctional, localisata variant (COL17A1)
  • Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1)
  • Failure of tooth eruption, primary (PTH1R)
  • GAPO [Growth retard., Alopecia, Pseudoanodontia, progressive Optic atrophy] syndrome (ANTXR1)
  • Geleophysic dysplasia 3 (LTBP3)
  • Hay-Wells syndrome (TP63)
  • Joubert syndrome 10 I (OFD1)
  • LADD [LacrimoAuriculoDentoDigital] syndrome (FGFR3, FGFR3, FGF10)
  • Odontoonychodermal dysplasia (WNT10A)
  • Oligodontia-colorectal cancer syndrome (AXIN2)
  • Orofacial cleft 10 (SUMO1)
  • Orofaciodigital syndrome I (OFD1)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Schopf-Schulz-Passarge syndrome (WNT10A)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Tooth agenesis, selective, 1, with/-out orofacial cleft (MSX1)
  • Tooth agenesis, selective, 3 (PAX9)
  • Tooth agenesis, selective, 4 (WNT10A)
  • Tooth agenesis, selective, 7 (LRP6)
  • Tooth agenesis, selective, 8 (WNT10B)
  • Tooth agenesis, selective, 9 (GREM2)
  • Tooth agenesis, selective, XL 1 (EDA)
  • Van der Woude syndrome (IRF6)
  • Van der Woude syndrome 2 (GRHL3)
  • Weyers acrofacial dysostosis (EVC, EVC2)
  • Woodhouse-Sakati syndrome (DCAF17)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
  • isolierte Fälle
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined