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Atypical dentin dysplasia due to SMOC2 deficiency

MedGen UID:
1673452
•Concept ID:
C5190802
•
Disease or Syndrome
Synonyms: atypical dentin dysplasia due to SMOC2 deficiency; Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency; Dentin dysplasia type 1 with microdontia and shape anomalies; dentin dysplasia type 1 with microdontia and shape anomalies
SNOMED CT: Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (783059004); Atypical dentin dysplasia due to SMOC2 deficiency (783059004); Dentin dysplasia type 1 with microdontia and shape anomalies (783059004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017819
Orphanet: ORPHA314721

Definition

A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical dentin dysplasia due to SMOC2 deficiency

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