MCID: DNT045
MIFTS: 27

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 54 12 24 71
Tooth Agenesis, Selective, 6 71 29 13 69
Brachyolmia-Amelogenesis Imperfecta Syndrome 12 56 71
Platyspondyly with Amelogenesis Imperfecta 12 24 71
Dass 12 24 71
Verloes Bourguignon Syndrome 71 69
Sthag6 12 71
Platyspondyly-Amelogenesis Imperfecta Syndrome 56
Verloes-Bourguignon Syndrome 56
Selective Tooth Agenesis 5 12

Characteristics:

Orphanet epidemiological data:

56
brachyolmia-amelogenesis imperfecta syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
dental anomalies and short stature:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 601216
Disease Ontology 12 DOID:0090143
ICD10 33 Q76.3
Orphanet 56 ORPHA2899
UMLS via Orphanet 70 C1832594
ICD10 via Orphanet 34 Q76.3
MedGen 40 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 short stature, hypertrichosis and platyspondyly. An important gene associated with Dental Anomalies and Short Stature is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3). The drugs Clonidine and Menthol have been mentioned in the context of this disorder. 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:

id Related Disease Score Top Affiliating Genes
1 brachyolmia 11.4
2 verloes bourguignon syndrome 11.2

Symptoms & Phenotypes for Dental Anomalies and Short Stature

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Teeth:
small teeth
widely spaced teeth
amelogenesis imperfecta
oligodontia
yellow teeth
more
Cardiovascular- Heart:
mitral valve prolapse (in family a)
mild mitral insufficiency (in family a)

Skin Nails & Hair- Hair:
hypertrichosis (in family a)

Skeletal:
delayed bone age

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

Skeletal- Spine:
platyspondyly (in some patients)
thick, short pedicles
narrow intervertebral spaces
posterior scalloping
herniated intervertebral nuclei
more

Clinical features from OMIM:

601216

Human phenotypes related to Dental Anomalies and Short Stature:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 hypertrichosis 32 HP:0000998
3 platyspondyly 32 HP:0000926
4 mitral valve prolapse 32 HP:0001634
5 widely spaced teeth 32 HP:0000687
6 microdontia 32 HP:0000691
7 amelogenesis imperfecta 32 HP:0000705
8 delayed skeletal maturation 32 HP:0002750
9 oligodontia 32 HP:0000677
10 mandibular prognathia 32 occasional (7.5%) HP:0000303
11 hypoplasia of the maxilla 32 occasional (7.5%) HP:0000327
12 narrow vertebral interpedicular distance 32 HP:0008450
13 intervertebral space narrowing 32 HP:0002945
14 herniation of intervertebral nuclei 32 HP:0008441

Drugs & Therapeutics for Dental Anomalies and Short Stature

Drugs for Dental Anomalies and Short Stature (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved 4205-90-7 2803
2
Menthol Approved 2216-51-5 16666
3
Tropicamide Approved 1508-75-4 5593
4 Adrenocorticotropic Hormone
5 Anesthetics
6 Antibodies
7 Corticotropin-Releasing Hormone
8 Hormone Antagonists
9 Hormones
10 Hormones, Hormone Substitutes, and Hormone Antagonists
11 Immunoglobulins
12 Mydriatics
13 arginine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Recruiting NCT00001594
2 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
3 Chromosome 18 Clinical Research Center Recruiting NCT00227253

Search 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:

id Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 6 29
2 Dental Anomalies and Short Stature 24 LTBP3

Anatomical Context for Dental Anomalies and Short Stature

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

39
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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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