MCID: DNT045
MIFTS: 24

Dental Anomalies and Short Stature

Categories: Genetic diseases, Bone diseases, Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dental Anomalies and Short Stature

MalaCards integrated aliases for Dental Anomalies and Short Stature:

Name: Dental Anomalies and Short Stature 53 12 71
Tooth Agenesis, Selective, 6 71 28 13 69
Brachyolmia-Amelogenesis Imperfecta Syndrome 12 55 71
Platyspondyly with Amelogenesis Imperfecta 53 12 71
Dass 53 12 71
Verloes Bourguignon Syndrome 71 69
Sthag6 12 71
Tooth Agenesis, Selective, 6, Formerly; Sthag6, Formerly 53
Platyspondyly-Amelogenesis Imperfecta Syndrome 55
Tooth Agenesis, Selective, 6, Formerly 53
Verloes-Bourguignon Syndrome 55
Selective Tooth Agenesis 5 12
Sthag6, Formerly 53

Characteristics:

Orphanet epidemiological data:

55
brachyolmia-amelogenesis imperfecta syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
dental anomalies and short stature:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 601216
Disease Ontology 12 DOID:0090143
ICD10 32 Q76.3
Orphanet 55 ORPHA2899
UMLS via Orphanet 70 C1832594
ICD10 via Orphanet 33 Q76.3
MedGen 39 C1832594

Summaries for Dental Anomalies and Short Stature

UniProtKB/Swiss-Prot : 71 Dental anomalies and short stature: A disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel.

MalaCards based summary : Dental Anomalies and Short Stature, also known as tooth agenesis, selective, 6, is related to brachyolmia and verloes bourguignon syndrome, and has symptoms including mandibular prognathia, widely spaced teeth and delayed skeletal maturation. An important gene associated with Dental Anomalies and Short Stature is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3). Affiliated tissues include bone.

Disease Ontology : 12 An autosomal recessive disease characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13.

Description from OMIM: 601216

Related Diseases for Dental Anomalies and Short Stature

Diseases related to Dental Anomalies and Short Stature via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachyolmia 11.5
2 verloes bourguignon syndrome 11.3

Symptoms & Phenotypes for Dental Anomalies and Short Stature

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Teeth:
widely spaced teeth
amelogenesis imperfecta
oligodontia
small teeth
yellow teeth
more
Skeletal:
delayed bone age

Skeletal Spine:
narrow intervertebral spaces
platyspondyly (in some patients)
thick, short pedicles
posterior scalloping
herniated intervertebral nuclei
more
Skin Nails Hair Hair:
hypertrichosis (in family a)

Growth Height:
short stature

Head And Neck Face:
maxillary hypoplasia (in some patients)
mandibular prognathism (in some patients)

Cardiovascular Heart:
mitral valve prolapse (in family a)
mild mitral insufficiency (in family a)


Clinical features from OMIM:

601216

Human phenotypes related to Dental Anomalies and Short Stature:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 occasional (7.5%) HP:0000303
2 widely spaced teeth 31 HP:0000687
3 delayed skeletal maturation 31 HP:0002750
4 short stature 31 HP:0004322
5 platyspondyly 31 HP:0000926
6 microdontia 31 HP:0000691
7 hypoplasia of the maxilla 31 occasional (7.5%) HP:0000327
8 mitral valve prolapse 31 HP:0001634
9 amelogenesis imperfecta 31 HP:0000705
10 oligodontia 31 HP:0000677
11 hypertrichosis 31 HP:0000998
12 narrow vertebral interpedicular distance 31 HP:0008450
13 intervertebral space narrowing 31 HP:0002945
14 herniation of intervertebral nuclei 31 HP:0008441

Drugs & Therapeutics for Dental Anomalies and Short Stature

Search Clinical Trials , NIH Clinical Center for Dental Anomalies and Short Stature

Genetic Tests for Dental Anomalies and Short Stature

Genetic tests related to Dental Anomalies and Short Stature:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 6 28 LTBP3

Anatomical Context for Dental Anomalies and Short Stature

MalaCards organs/tissues related to Dental Anomalies and Short Stature:

38
Bone

Publications for Dental Anomalies and Short Stature

Variations for Dental Anomalies and Short Stature

ClinVar genetic disease variations for Dental Anomalies and Short Stature:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP3 NM_001130144.2(LTBP3): c.2322C> G (p.Tyr774Ter) single nucleotide variant Pathogenic rs121909145 GRCh37 Chromosome 11, 65313944: 65313944
2 LTBP3 NM_001130144.2(LTBP3): c.1859dupG (p.Cys620Trpfs) duplication Pathogenic rs878853262 GRCh38 Chromosome 11, 65547809: 65547809
3 LTBP3 NM_001130144.2(LTBP3): c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) deletion Pathogenic rs875989822 GRCh38 Chromosome 11, 65547462: 65547475
4 LTBP3 NM_001130144.2(LTBP3): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic rs796052116 GRCh37 Chromosome 11, 65321762: 65321762
5 LTBP3 NM_001130144.2(LTBP3): c.1531+1G> T single nucleotide variant Pathogenic rs875989823 GRCh38 Chromosome 11, 65551971: 65551971
6 LTBP3 NM_001130144.2(LTBP3): c.2216delG (p.Gly739Alafs) deletion Pathogenic rs752375653 GRCh38 Chromosome 11, 65546812: 65546812
7 LTBP3 NM_001130144.2(LTBP3): c.2356delG (p.Val786Trpfs) deletion Pathogenic rs875989824 GRCh38 Chromosome 11, 65543547: 65543547

Expression for Dental Anomalies and Short Stature

Search GEO for disease gene expression data for Dental Anomalies and Short Stature.

Pathways for Dental Anomalies and Short Stature

GO Terms for Dental Anomalies and Short Stature

Sources for Dental Anomalies and Short Stature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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