MCID: DNT045
MIFTS: 30

Dental Anomalies and Short Stature

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

Aliases & Classifications for Dental Anomalies and Short Stature

MalaCards integrated aliases for Dental Anomalies and Short Stature:

Name: Dental Anomalies and Short Stature 57 12 75 40
Verloes Bourguignon Syndrome 53 75 29 6 73
Platyspondyly with Amelogenesis Imperfecta 57 12 53 75
Tooth Agenesis, Selective, 6 75 29 13 73
Brachyolmia-Amelogenesis Imperfecta Syndrome 12 59 75
Dass 57 12 75
Verloes-Bourguignon Syndrome 57 59
Sthag6 12 75
Skeletal Dysplasia with Amelogenesis Imperfecta and Platyspondyly 53
Tooth Agenesis, Selective, 6, Formerly; Sthag6, Formerly 57
Platyspondyly-Amelogenesis Imperfecta Syndrome 59
Amelogenesis Imperfecta and Platyspondyly 53
Tooth Agenesis, Selective, 6, Formerly 57
Agenesis, Tooth, Selective, Type 6 40
Verloes-Bourguignon Syndrome; Vbs 57
Selective Tooth Agenesis 5 12
Sthag6, Formerly 57
Vbs 57

Characteristics:

Orphanet epidemiological data:

59
brachyolmia-amelogenesis imperfecta syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
inter- and intrafamilial variability has been reported
some heterozygotes may have increased risk for aneurysmal disease at older ages


HPO:

32
dental anomalies and short stature:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601216
Disease Ontology 12 DOID:0090143
ICD10 33 Q76.3
Orphanet 59 ORPHA2899
ICD10 via Orphanet 34 Q76.3
UMLS via Orphanet 74 C1832594
MedGen 42 C1832594

Summaries for Dental Anomalies and Short Stature

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2899Disease definitionAutosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dental Anomalies and Short Stature, also known as verloes bourguignon syndrome, is related to neuronopathy, distal hereditary motor, type vb and brachyolmia. An important gene associated with Dental Anomalies and Short Stature is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3). Affiliated tissues include bone, and related phenotypes are mandibular prognathia and widely spaced teeth

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.

OMIM : 57 Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported. (601216)

UniProtKB/Swiss-Prot : 75 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.

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:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type vb 12.4
2 brachyolmia 11.5
3 spastic paraplegia 17, autosomal dominant 10.9
4 diarrhea 2, with microvillus atrophy 10.1
5 amelogenesis imperfecta 10.1
6 skeletal dysplasias 10.1
7 newcastle disease 9.9
8 anxiety 9.9
9 depression 9.9
10 schizophrenia 9.8
11 cystic fibrosis 9.8
12 neuroblastoma 9.8
13 hemophilia b 9.8
14 nasopharyngeal carcinoma 9.8
15 thrombocytopenia 9.8
16 nasopharyngitis 9.8
17 thrombocytopenia due to platelet alloimmunization 9.8
18 muscular atrophy 9.8
19 hemophilia 9.8
20 germ cells tumors 9.8
21 phacomatosis pigmentovascularis 9.8

Graphical network of the top 20 diseases related to Dental Anomalies and Short Stature:



Diseases related to Dental Anomalies and Short Stature

Symptoms & Phenotypes for Dental Anomalies and Short Stature

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
widely spaced teeth
amelogenesis imperfecta
oligodontia
small teeth
yellow teeth
more
Skeletal:
delayed bone age

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)

Growth Height:
short stature

Cardiovascular Vascular:
aortic root dilation
aneurysm of ascending aorta
dissection of ascending aorta
aneurysm of aortic arch
aneurysm of descending aorta
more
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)


Clinical features from OMIM:

601216

Human phenotypes related to Dental Anomalies and Short Stature:

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

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 29 LTBP3
2 Verloes Bourguignon Syndrome 29 LTBP3

Anatomical Context for Dental Anomalies and Short Stature

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

41
Bone

Publications for Dental Anomalies and Short Stature

Articles related to Dental Anomalies and Short Stature:

# Title Authors Year
1
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. ( 8721563 )
1996

Variations for Dental Anomalies and Short Stature

ClinVar genetic disease variations for Dental Anomalies and Short Stature:

6
(show all 38)
# 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.2322C> G (p.Tyr774Ter) single nucleotide variant Pathogenic rs121909145 GRCh38 Chromosome 11, 65546473: 65546473
3 LTBP3 NM_001130144.2(LTBP3): c.1859dupG (p.Cys620Trpfs) duplication Pathogenic rs878853262 GRCh38 Chromosome 11, 65547809: 65547809
4 LTBP3 NM_001130144.2(LTBP3): c.1859dupG (p.Cys620Trpfs) duplication Pathogenic rs878853262 GRCh37 Chromosome 11, 65315280: 65315280
5 LTBP3 NM_001130144.2(LTBP3): c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) deletion Pathogenic rs875989822 GRCh38 Chromosome 11, 65547462: 65547475
6 LTBP3 NM_001130144.2(LTBP3): c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) deletion Pathogenic rs875989822 GRCh37 Chromosome 11, 65314933: 65314946
7 LTBP3 NM_001130144.2(LTBP3): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic rs796052116 GRCh37 Chromosome 11, 65321762: 65321762
8 LTBP3 NM_001130144.2(LTBP3): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic rs796052116 GRCh38 Chromosome 11, 65554291: 65554291
9 LTBP3 NM_001130144.2(LTBP3): c.1531+1G> T single nucleotide variant Pathogenic rs875989823 GRCh38 Chromosome 11, 65551971: 65551971
10 LTBP3 NM_001130144.2(LTBP3): c.1531+1G> T single nucleotide variant Pathogenic rs875989823 GRCh37 Chromosome 11, 65319442: 65319442
11 LTBP3 NM_001130144.2(LTBP3): c.2216delG (p.Gly739Alafs) deletion Pathogenic rs752375653 GRCh38 Chromosome 11, 65546812: 65546812
12 LTBP3 NM_001130144.2(LTBP3): c.2216delG (p.Gly739Alafs) deletion Pathogenic rs752375653 GRCh37 Chromosome 11, 65314283: 65314283
13 LTBP3 NM_001130144.2(LTBP3): c.2356delG (p.Val786Trpfs) deletion Pathogenic rs875989824 GRCh38 Chromosome 11, 65543547: 65543547
14 LTBP3 NM_001130144.2(LTBP3): c.2356delG (p.Val786Trpfs) deletion Pathogenic rs875989824 GRCh37 Chromosome 11, 65311018: 65311018
15 LTBP3 NM_001130144.2(LTBP3): c.2889C> T (p.Ser963=) single nucleotide variant Benign rs75311576 GRCh37 Chromosome 11, 65308601: 65308601
16 LTBP3 NM_001130144.2(LTBP3): c.2889C> T (p.Ser963=) single nucleotide variant Benign rs75311576 GRCh38 Chromosome 11, 65541130: 65541130
17 LTBP3 NM_001130144.2(LTBP3): c.103_105dup (p.Leu35_Gly36insLeu) duplication Benign GRCh37 Chromosome 11, 65325326: 65325328
18 LTBP3 NM_001130144.2(LTBP3): c.103_105dup (p.Leu35_Gly36insLeu) duplication Benign GRCh38 Chromosome 11, 65557855: 65557857
19 LTBP3 NM_001130144.2(LTBP3): c.97_105dup (p.Leu35_Gly36insLeuLeuLeu) duplication Uncertain significance GRCh37 Chromosome 11, 65325326: 65325334
20 LTBP3 NM_001130144.2(LTBP3): c.97_105dup (p.Leu35_Gly36insLeuLeuLeu) duplication Uncertain significance GRCh38 Chromosome 11, 65557855: 65557863
21 LTBP3 NM_001130144.2(LTBP3): c.804C> T (p.Pro268=) single nucleotide variant Benign rs201590889 GRCh38 Chromosome 11, 65553761: 65553761
22 LTBP3 NM_001130144.2(LTBP3): c.804C> T (p.Pro268=) single nucleotide variant Benign rs201590889 GRCh37 Chromosome 11, 65321232: 65321232
23 LTBP3 NM_001130144.2(LTBP3): c.97_105delCTGCTGCTG (p.Leu33_Leu35del) deletion Uncertain significance rs577530923 GRCh37 Chromosome 11, 65325326: 65325334
24 LTBP3 NM_001130144.2(LTBP3): c.97_105delCTGCTGCTG (p.Leu33_Leu35del) deletion Uncertain significance rs577530923 GRCh38 Chromosome 11, 65557855: 65557863
25 LTBP3 NM_001130144.2(LTBP3): c.457G> A (p.Gly153Ser) single nucleotide variant Uncertain significance rs373381192 GRCh38 Chromosome 11, 65554255: 65554255
26 LTBP3 NM_001130144.2(LTBP3): c.457G> A (p.Gly153Ser) single nucleotide variant Uncertain significance rs373381192 GRCh37 Chromosome 11, 65321726: 65321726
27 LTBP3 NM_001130144.2(LTBP3): c.132delG (p.Pro45Argfs) deletion Pathogenic GRCh38 Chromosome 11, 65557828: 65557828
28 LTBP3 NM_001130144.2(LTBP3): c.132delG (p.Pro45Argfs) deletion Pathogenic GRCh37 Chromosome 11, 65325299: 65325299
29 LTBP3 NM_001130144.2(LTBP3): c.2248G> T (p.Glu750Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 65546547: 65546547
30 LTBP3 NM_001130144.2(LTBP3): c.2248G> T (p.Glu750Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 65314018: 65314018
31 LTBP3 NM_001130144.2(LTBP3): c.2222C> G (p.Ala741Gly) single nucleotide variant Benign rs148780991 GRCh37 Chromosome 11, 65314277: 65314277
32 LTBP3 NM_001130144.2(LTBP3): c.2222C> G (p.Ala741Gly) single nucleotide variant Benign rs148780991 GRCh38 Chromosome 11, 65546806: 65546806
33 LTBP3 NM_001130144.2(LTBP3): c.3372C> T (p.Pro1124=) single nucleotide variant Likely benign rs891777322 GRCh38 Chromosome 11, 65540026: 65540026
34 LTBP3 NM_001130144.2(LTBP3): c.3372C> T (p.Pro1124=) single nucleotide variant Likely benign rs891777322 GRCh37 Chromosome 11, 65307497: 65307497
35 LTBP3 NM_001130144.2(LTBP3): c.3548-9T> C single nucleotide variant Benign rs149115544 GRCh38 Chromosome 11, 65539637: 65539637
36 LTBP3 NM_001130144.2(LTBP3): c.3548-9T> C single nucleotide variant Benign rs149115544 GRCh37 Chromosome 11, 65307108: 65307108
37 LTBP3 NM_001130144.2(LTBP3): c.103_105delCTG (p.Leu35del) deletion Uncertain significance GRCh38 Chromosome 11, 65557855: 65557857
38 LTBP3 NM_001130144.2(LTBP3): c.103_105delCTG (p.Leu35del) deletion Uncertain significance GRCh37 Chromosome 11, 65325326: 65325328

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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