DASS
MCID: DNT045
MIFTS: 37

Dental Anomalies and Short Stature (DASS)

Categories: Bone diseases, Fetal diseases, Genetic 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 58 12 76 41
Verloes Bourguignon Syndrome 54 76 30 6 74
Brachyolmia-Amelogenesis Imperfecta Syndrome 12 60 76 15
Platyspondyly with Amelogenesis Imperfecta 58 12 54 76
Tooth Agenesis, Selective, 6 76 30 13 74
Dass 58 12 76
Verloes-Bourguignon Syndrome 58 60
Sthag6 12 76
Vbs 58 76
Skeletal Dysplasia with Amelogenesis Imperfecta and Platyspondyly 54
Tooth Agenesis, Selective, 6, Formerly; Sthag6, Formerly 58
Platyspondyly-Amelogenesis Imperfecta Syndrome 60
Amelogenesis Imperfecta and Platyspondyly 54
Tooth Agenesis, Selective, 6, Formerly 58
Agenesis, Tooth, Selective, Type 6 41
Verloes-Bourguignon Syndrome; Vbs 58
Selective Tooth Agenesis 5 12
Sthag6, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
brachyolmia-amelogenesis imperfecta syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
dental anomalies and short stature:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090143
OMIM 58 601216
ICD10 34 Q76.3
ICD10 via Orphanet 35 Q76.3
UMLS via Orphanet 75 C1832594
Orphanet 60 ORPHA2899
MedGen 43 C1832594

Summaries for Dental Anomalies and Short Stature

NIH Rare Diseases : 54 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, neutrophil and bone marrow, and related phenotypes are mandibular prognathia and hypoplasia of the maxilla

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 : 58 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 : 76 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

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

Human phenotypes related to Dental Anomalies and Short Stature:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 33 occasional (7.5%) HP:0000303
2 hypoplasia of the maxilla 33 occasional (7.5%) HP:0000327
3 widely spaced teeth 33 HP:0000687
4 delayed skeletal maturation 33 HP:0002750
5 short stature 33 HP:0004322
6 platyspondyly 33 HP:0000926
7 microdontia 33 HP:0000691
8 mitral valve prolapse 33 HP:0001634
9 amelogenesis imperfecta 33 HP:0000705
10 oligodontia 33 HP:0000677
11 hypertrichosis 33 HP:0000998
12 narrow vertebral interpedicular distance 33 HP:0008450
13 herniation of intervertebral nuclei 33 HP:0008441
14 intervertebral space narrowing 33 HP:0002945

Symptoms via clinical synopsis from OMIM:

58
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

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 30
2 Verloes Bourguignon Syndrome 30 LTBP3

Anatomical Context for Dental Anomalies and Short Stature

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

42
Bone, Neutrophil, Bone Marrow

Publications for Dental Anomalies and Short Stature

Articles related to Dental Anomalies and Short Stature:

# Title Authors Year
1
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. ( 29625025 )
2018
2
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. ( 25669657 )
2015
3
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. ( 25899461 )
2015
4
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. ( 19344874 )
2009
5
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. ( 19213025 )
2009
6
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 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP3 NM_001130144.2(LTBP3): c.3696G> A (p.Pro1232=) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 65306863: 65306863
2 LTBP3 NM_001130144.2(LTBP3): c.3696G> A (p.Pro1232=) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 65539392: 65539392
3 LTBP3 NM_001130144.2(LTBP3): c.751G> A (p.Glu251Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 65321285: 65321285
4 LTBP3 NM_001130144.2(LTBP3): c.751G> A (p.Glu251Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 65553814: 65553814
5 LTBP3 NM_001130144.2(LTBP3): c.1196C> T (p.Pro399Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 65552397: 65552397
6 LTBP3 NM_001130144.2(LTBP3): c.1196C> T (p.Pro399Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 65319868: 65319868
7 LTBP3 NM_001130144.2(LTBP3): c.2919C> G (p.Asp973Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 65308400: 65308400
8 LTBP3 NM_001130144.2(LTBP3): c.2919C> G (p.Asp973Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 65540929: 65540929
9 LTBP3 NM_001130144.2(LTBP3): c.2380G> A (p.Val794Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 65310994: 65310994
10 LTBP3 NM_001130144.2(LTBP3): c.2380G> A (p.Val794Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 65543523: 65543523
11 LTBP3 NM_001130144.2(LTBP3): c.2248G> T (p.Glu750Ter) single nucleotide variant Pathogenic rs1554973844 GRCh37 Chromosome 11, 65314018: 65314018
12 LTBP3 NM_001130144.2(LTBP3): c.2248G> T (p.Glu750Ter) single nucleotide variant Pathogenic rs1554973844 GRCh38 Chromosome 11, 65546547: 65546547
13 LTBP3 NM_001130144.2(LTBP3): c.132delG (p.Pro45Argfs) deletion Pathogenic rs1286042594 GRCh37 Chromosome 11, 65325299: 65325299
14 LTBP3 NM_001130144.2(LTBP3): c.132delG (p.Pro45Argfs) deletion Pathogenic rs1286042594 GRCh38 Chromosome 11, 65557828: 65557828
15 LTBP3 NM_001130144.2(LTBP3): c.1550C> T (p.Pro517Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145001056 GRCh38 Chromosome 11, 65551473: 65551473
16 LTBP3 NM_001130144.2(LTBP3): c.1550C> T (p.Pro517Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145001056 GRCh37 Chromosome 11, 65318944: 65318944
17 LTBP3 NM_001130144.2(LTBP3): c.2322C> G (p.Tyr774Ter) single nucleotide variant Pathogenic rs121909145 GRCh38 Chromosome 11, 65546473: 65546473
18 LTBP3 NM_001130144.2(LTBP3): c.2322C> G (p.Tyr774Ter) single nucleotide variant Pathogenic rs121909145 GRCh37 Chromosome 11, 65313944: 65313944
19 LTBP3 NM_001130144.2(LTBP3): c.103_105delCTG (p.Leu35del) deletion Uncertain significance rs71036212 GRCh37 Chromosome 11, 65325326: 65325328
20 LTBP3 NM_001130144.2(LTBP3): c.103_105delCTG (p.Leu35del) deletion Uncertain significance rs71036212 GRCh38 Chromosome 11, 65557855: 65557857
21 LTBP3 NM_001130144.2(LTBP3): c.3548-9T> C single nucleotide variant Benign rs149115544 GRCh38 Chromosome 11, 65539637: 65539637
22 LTBP3 NM_001130144.2(LTBP3): c.3548-9T> C single nucleotide variant Benign rs149115544 GRCh37 Chromosome 11, 65307108: 65307108
23 LTBP3 NM_001130144.2(LTBP3): c.3372C> T (p.Pro1124=) single nucleotide variant Likely benign rs891777322 GRCh37 Chromosome 11, 65307497: 65307497
24 LTBP3 NM_001130144.2(LTBP3): c.3372C> T (p.Pro1124=) single nucleotide variant Likely benign rs891777322 GRCh38 Chromosome 11, 65540026: 65540026
25 LTBP3 NM_001130144.2(LTBP3): c.2222C> G (p.Ala741Gly) single nucleotide variant Benign rs148780991 GRCh38 Chromosome 11, 65546806: 65546806
26 LTBP3 NM_001130144.2(LTBP3): c.2222C> G (p.Ala741Gly) single nucleotide variant Benign rs148780991 GRCh37 Chromosome 11, 65314277: 65314277
27 LTBP3 NM_001130144.2(LTBP3): c.457G> A (p.Gly153Ser) single nucleotide variant Uncertain significance rs373381192 GRCh37 Chromosome 11, 65321726: 65321726
28 LTBP3 NM_001130144.2(LTBP3): c.457G> A (p.Gly153Ser) single nucleotide variant Uncertain significance rs373381192 GRCh38 Chromosome 11, 65554255: 65554255
29 LTBP3 NM_001130144.2(LTBP3): c.97_105delCTGCTGCTG (p.Leu33_Leu35del) deletion Uncertain significance rs71036212 GRCh37 Chromosome 11, 65325326: 65325334
30 LTBP3 NM_001130144.2(LTBP3): c.97_105delCTGCTGCTG (p.Leu33_Leu35del) deletion Uncertain significance rs71036212 GRCh38 Chromosome 11, 65557855: 65557863
31 LTBP3 NM_001130144.2(LTBP3): c.804C> T (p.Pro268=) single nucleotide variant Benign rs201590889 GRCh38 Chromosome 11, 65553761: 65553761
32 LTBP3 NM_001130144.2(LTBP3): c.804C> T (p.Pro268=) single nucleotide variant Benign rs201590889 GRCh37 Chromosome 11, 65321232: 65321232
33 LTBP3 NM_001130144.2(LTBP3): c.97_105dup (p.Leu35_Gly36insLeuLeuLeu) duplication Uncertain significance rs71036212 GRCh38 Chromosome 11, 65557855: 65557863
34 LTBP3 NM_001130144.2(LTBP3): c.97_105dup (p.Leu35_Gly36insLeuLeuLeu) duplication Uncertain significance rs71036212 GRCh37 Chromosome 11, 65325326: 65325334
35 LTBP3 NM_001130144.2(LTBP3): c.103_105dup (p.Leu35_Gly36insLeu) duplication Benign rs71036212 GRCh38 Chromosome 11, 65557855: 65557857
36 LTBP3 NM_001130144.2(LTBP3): c.103_105dup (p.Leu35_Gly36insLeu) duplication Benign rs71036212 GRCh37 Chromosome 11, 65325326: 65325328
37 LTBP3 NM_001130144.2(LTBP3): c.2889C> T (p.Ser963=) single nucleotide variant Benign rs75311576 GRCh38 Chromosome 11, 65541130: 65541130
38 LTBP3 NM_001130144.2(LTBP3): c.2889C> T (p.Ser963=) single nucleotide variant Benign rs75311576 GRCh37 Chromosome 11, 65308601: 65308601
39 LTBP3 NM_001130144.2(LTBP3): c.2356delG (p.Val786Trpfs) deletion Pathogenic rs875989824 GRCh37 Chromosome 11, 65311018: 65311018
40 LTBP3 NM_001130144.2(LTBP3): c.2356delG (p.Val786Trpfs) deletion Pathogenic rs875989824 GRCh38 Chromosome 11, 65543547: 65543547
41 LTBP3 NM_001130144.2(LTBP3): c.2216delG (p.Gly739Alafs) deletion Pathogenic rs752375653 GRCh37 Chromosome 11, 65314283: 65314283
42 LTBP3 NM_001130144.2(LTBP3): c.2216delG (p.Gly739Alafs) deletion Pathogenic rs752375653 GRCh38 Chromosome 11, 65546812: 65546812
43 LTBP3 NM_001130144.2(LTBP3): c.1531+1G> T single nucleotide variant Pathogenic rs875989823 GRCh37 Chromosome 11, 65319442: 65319442
44 LTBP3 NM_001130144.2(LTBP3): c.1531+1G> T single nucleotide variant Pathogenic rs875989823 GRCh38 Chromosome 11, 65551971: 65551971
45 LTBP3 NM_001130144.2(LTBP3): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic rs796052116 GRCh38 Chromosome 11, 65554291: 65554291
46 LTBP3 NM_001130144.2(LTBP3): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic rs796052116 GRCh37 Chromosome 11, 65321762: 65321762
47 LTBP3 NM_001130144.2(LTBP3): c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) deletion Pathogenic rs875989822 GRCh37 Chromosome 11, 65314933: 65314946
48 LTBP3 NM_001130144.2(LTBP3): c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) deletion Pathogenic rs875989822 GRCh38 Chromosome 11, 65547462: 65547475
49 LTBP3 NM_001130144.2(LTBP3): c.1859dup (p.Cys620Trpfs) duplication Pathogenic rs878853262 GRCh37 Chromosome 11, 65315280: 65315280
50 LTBP3 NM_001130144.2(LTBP3): c.1859dup (p.Cys620Trpfs) duplication Pathogenic rs878853262 GRCh38 Chromosome 11, 65547809: 65547809

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

Molecular functions related to Dental Anomalies and Short Stature according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 AEBP1 PCOLCE
2 collagen binding GO:0005518 8.8 AEBP1 ADGRG6 PCOLCE

Sources for Dental Anomalies and Short Stature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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