Atypical dentin dysplasia due to SMOC2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ROOTLESS TEETH
DENTIN DYSPLASIA, SHIELDS TYPE I
RADICULAR DENTIN DYSPLASIA DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH, INCLUDED
DTDP1
Dentin dysplasia type 1 with microdontia and shape anomalies
Number of Symptoms 14
OrphanetNr: 314721
OMIM Id: 125400
ICD-10: K00.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dentin dysplasia
 -Rare genetic disease
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000679) Taurodontia rare [HPO:skoehler] 27 / 7739
2
 (HPO:0006482) Abnormality of dental morphology 81 / 7739
3
 (HPO:0011060) Dentinogenesis imperfecta limited to primary teeth 3 / 7739
4
 (HPO:0006350) Obliteration of the pulp chamber 1 / 7739
5
 (HPO:0000700) Periapical radiolucency 2 / 7739
6
 (HPO:0000691) Microdontia rare [HPO:skoehler] 104 / 7739
7
 (OMIM) Absent pulp chambers 2 / 7739
8
 (OMIM) Tooth coloration normal to bluish/brownish/opalescent 1 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (OMIM) Absent to short roots 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Absent root canals 1 / 7739
13
 (OMIM) Exfoliate easily with minor trauma 1 / 7739
14
 (OMIM) Malalignment 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In dentin dysplasia type I, both primary and secondary dentitions are affected. The color and general morphology of the teeth are usually normal, although they may be slightly opalescent and blue or brown. Teeth may be very mobile ...
Molecular genetics OMIM In 2 affected first cousins from a consanguineous Turkish pedigree with a form of type I dentin dysplasia associated with extreme microdontia and misshapen teeth, mapping to chromosome 6q27-qter, Bloch-Zupan et al. (2011) identified homozygosity for a splice ...