DASS
MCID: DNT045
MIFTS: 49

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 56 12 73 29 6 39
Brachyolmia-Amelogenesis Imperfecta Syndrome 12 58 73 15
Platyspondyly with Amelogenesis Imperfecta 56 12 52 73
Verloes Bourguignon Syndrome 52 73 71
Dass 56 12 73
Verloes-Bourguignon Syndrome 56 58
Tooth Agenesis, Selective, 6 73 71
Sthag6 12 73
Vbs 56 73
Skeletal Dysplasia with Amelogenesis Imperfecta and Platyspondyly 52
Tooth Agenesis, Selective, 6, Formerly; Sthag6, Formerly 56
Platyspondyly-Amelogenesis Imperfecta Syndrome 58
Amelogenesis Imperfecta and Platyspondyly 52
Tooth Agenesis, Selective, 6, Formerly 56
Agenesis, Tooth, Selective, Type 6 39
Verloes-Bourguignon Syndrome; Vbs 56
Selective Tooth Agenesis 5 12
Sthag6, Formerly 56

Characteristics:

Orphanet epidemiological data:

58
brachyolmia-amelogenesis imperfecta syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
dental anomalies and short stature:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0090143
OMIM 56 601216
ICD10 32 Q76.3
ICD10 via Orphanet 33 Q76.3
UMLS via Orphanet 72 C1832594
Orphanet 58 ORPHA2899
MedGen 41 C1832594
UMLS 71 C1832594 C2751297

Summaries for Dental Anomalies and Short Stature

UniProtKB/Swiss-Prot : 73 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 brachyolmia-amelogenesis imperfecta 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). The drugs Efavirenz and Didanosine have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and kidney, and related phenotypes are mandibular prognathia and hypoplasia of the maxilla

Disease Ontology : 12 A syndrome 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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2899 Definition An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis , and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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 top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type vb 12.7
2 brachyolmia 11.8
3 spastic paraplegia 17, autosomal dominant 11.3
4 anxiety 10.7
5 diarrhea 2, with microvillus atrophy 10.4
6 amelogenesis imperfecta 10.3
7 schistosoma mansoni infection, susceptibility/ 10.3
8 schistosomiasis 10.3
9 diarrhea 10.2
10 colorectal cancer 10.2
11 retinoblastoma 10.2
12 bacterial infectious disease 10.2
13 mastitis 10.2
14 acute cystitis 10.2
15 familial retinoblastoma 10.2
16 muscular dystrophy 10.2
17 47,xyy 10.2
18 cysticercosis 10.1
19 hypothyroidism 10.1
20 mood disorder 10.1
21 thyroid gland disease 10.1
22 trichinosis 10.1
23 depression 10.1
24 chronic pain 10.1
25 autism 10.1
26 muscular dystrophy-dystroglycanopathy , type a, 1 10.1
27 muscular dystrophy-dystroglycanopathy , type a, 4 10.1
28 major affective disorder 8 10.1
29 major affective disorder 9 10.1
30 muscular dystrophy, congenital, lmna-related 10.1
31 walker-warburg syndrome 10.1
32 lymphoma 10.1
33 mucositis 10.1
34 listeriosis 10.1
35 shigellosis 10.1
36 endogenous depression 10.1
37 newcastle disease 10.1
38 bipolar disorder 10.1
39 muscle eye brain disease 10.1
40 dissociative disorder 10.0 SCLY CFI
41 barre-lieou syndrome 10.0 TSKU CFI
42 phobia, specific 10.0 IVL CTU2 CFI
43 social phobia 9.9 IVL CTU2 CFI
44 hypertelorism 9.9
45 opitz gbbb syndrome, type ii 9.9
46 ovarian cancer 9.9
47 pheochromocytoma 9.9
48 retinal detachment 9.9
49 schizophrenia 9.9
50 cystic fibrosis 9.9

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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 occasional (7.5%) HP:0000303
2 hypoplasia of the maxilla 31 occasional (7.5%) HP:0000327
3 delayed skeletal maturation 31 HP:0002750
4 widely spaced teeth 31 HP:0000687
5 short stature 31 HP:0004322
6 microdontia 31 HP:0000691
7 mitral valve prolapse 31 HP:0001634
8 platyspondyly 31 HP:0000926
9 oligodontia 31 HP:0000677
10 amelogenesis imperfecta 31 HP:0000705
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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
widely spaced teeth
oligodontia
amelogenesis imperfecta
small teeth
yellow teeth
more
Skeletal:
delayed bone age

Skeletal Spine:
platyspondyly (in some patients)
narrow intervertebral spaces
thick, short pedicles
posterior scalloping
herniated intervertebral nuclei
more
Cardiovascular Heart:
mitral valve prolapse (in family a)
mild mitral insufficiency (in family a)

Growth Height:
short stature

Cardiovascular Vascular:
aneurysm of ascending aorta
aortic root dilation
dissection of ascending aorta
aneurysm of aortic arch
aneurysm of descending aorta
more
Head And Neck Face:
maxillary hypoplasia (in some patients)
mandibular prognathism (in some patients)

Skin Nails Hair Hair:
hypertrichosis (in family a)

Clinical features from OMIM:

601216

Drugs & Therapeutics for Dental Anomalies and Short Stature

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
2
Didanosine Approved Phase 4 69655-05-6 50599
3
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
4 Antiviral Agents Phase 4
5 Sulfalene Phase 4
6 Acidophilus Phase 4
7 Bifidobacterium Phase 4
8 Tea Phase 4
9 Hibiscus Phase 4
10 Central Nervous System Stimulants Phase 2
11 adderall Phase 2
12
Hydrocortisone Approved, Vet_approved 50-23-7 5754
13
Hydrocortisone acetate Approved, Vet_approved 50-03-3
14
Citalopram Approved 59729-33-8 2771
15
Paroxetine Approved, Investigational 61869-08-7 43815
16
Fluvoxamine Approved, Investigational 54739-18-3 3404 5324346
17
Fluoxetine Approved, Vet_approved 54910-89-3 3386
18
Sertraline Approved 79617-96-2 68617
19
Rufinamide Approved 106308-44-5 129228
20
Oxcarbazepine Approved 28721-07-5 34312
21
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
22
Lidocaine Approved, Vet_approved 137-58-6 3676
23
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
24
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
25
tannic acid Approved 1401-55-4
26
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
27
Ethanol Approved 64-17-5 702
28
Naloxone Approved, Vet_approved 465-65-6 5284596
29
Buprenorphine Approved, Illicit, Investigational, Vet_approved 52485-79-7 40400 644073
30
Mannitol Approved, Investigational 69-65-8 6251 453
31
Lactulose Approved 4618-18-2 11333
32 Hydrocortisone 17-butyrate 21-propionate
33 Hydrocortisone hemisuccinate
34 Cytochrome P-450 Enzyme Inhibitors
35 Antidepressive Agents
36 Psychotropic Drugs
37 Serotonin Uptake Inhibitors
38 Anti-Anxiety Agents
39 Neurotransmitter Agents
40 Calamus
41 Sodium Channel Blockers
42 Anesthetics
43 Anti-Arrhythmia Agents
44 Diuretics, Potassium Sparing
45 Anesthetics, Local
46 Anti-Infective Agents
47 Anti-Retroviral Agents
48 Anti-Infective Agents, Local
49 Liver Extracts
50 Analgesics, Opioid

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 A Randomised, Multi-Centre, Open-Label Study in Well-Controlled Treatment-Experienced HIV-Infected Patients to Assess Compliance With a Once-Daily Regimen of Lamivudine, Efavirenz and Didanosine Versus Continuation of Current Anti-Retroviral Regimen Delivered at Least Twice Daily Unknown status NCT00214435 Phase 4 once daily minimum 3-drug regimen of anti-retroviral medications
2 Bright Light Therapy Efficacy for Depressive Symptoms Following Cardiac Surgery or Acute Coronary Syndrome: Pilot Trial Completed NCT02621567 Phase 4
3 A 12-week Randomized Controlled Trial of Probiotic Treatment (Lactobacillus Helveticus R0052 and Bifidobacterium Longum R0175) vs Placebo in Adult Obsessive Compulsive Disorder Recruiting NCT02334644 Phase 4
4 Effect of Hibiscus Sabdariffa on Blood Pressure in a University Population Not yet recruiting NCT03804801 Phase 4
5 Probiotics and the Microbiome: Clinical Intervention Trial for Anxiety and Depression Unknown status NCT02035878 Phase 2 Placebo
6 Acute Effects of Prescription Stimulant Medication on Cognition and Mood in College Students With and Without ADHD Not yet recruiting NCT03935646 Phase 2 Adderall IR 10mg;Placebo
7 A Randomised Controlled Trial of a Letter Intervention in Primary Care Patients to Improve Depression and Anxiety Disorders Completed NCT00307697 Phase 1
8 Relation Between Emotional Stress and Infertility Unknown status NCT02822872
9 Identifying Neuroimaging Biomarkers, Demographic, Personality and Sensory Factors for Predicting Extreme Pain Responses to Various Experimental Pain Stimulations in Healthy Subjects Unknown status NCT03436264
10 Validation of the German Version of the Injustice Experience Questionnaire (IEQ) in 6 Pain Centers Unknown status NCT02552719
11 Using a Diabetic Kidney Disease (DKD) Registry to Treat to Multiple Targets (TMT) (DKD-TMT) Unknown status NCT02176278
12 Bakery Products for Non-Coeliac Gluten Sensitive Consumers Unknown status NCT02308397
13 A Pilot Study Examining the Gut Microbiota in Patients With Obsessive-Compulsive Disorder vs. Healthy Controls and Following 12-weeks of Open-label Selective Serotonin Reuptake Inhibitors Treatment Unknown status NCT02285699 SSRIs
14 Adaptation of a U.S. Internet Tool to Prevent Depression and Addiction in Hong Kong Adolescents Unknown status NCT01783652
15 Better Nights, Better Days: Improving Psychosocial Health Outcomes in Children With Behavioural Insomnia Unknown status NCT02243501
16 Effect of Oral Rufinamide and Oxcarbazepine on Nerve Excitability, Hyperalgesia, Allodynia and Flare Reaction Compared to Placebo. A Monocenter, Randomized, Double-blind, Cross-over Study Completed NCT01212458 Rufinamid
17 Aufmerksamkeitstest Mittels Fahrsimulation Bei Normalpersonen Und Patienten Mit Obstruktivem Schlafapnoesyndrom Completed NCT01460173
18 Correlates of Physical Activity With Anthropometric Traits, Mental Health and Quality of Life in College Women of Manipal University Completed NCT03153189
19 The Effect of Video Camera Magnifier Use on Reading Completed NCT01670643
20 Differential Diagnosis for the Causes of Subclavian Steal for Patients With Vascular Access in the Forearm Completed NCT01263301
21 Arousalanalyse Mittels Pulswellenamplitude Bei Patienten Mit Obstruktiver Schlafapnoe Completed NCT01690429
22 Burnout, Emotional Distress and Needs in Frontline COVID-19 Healthcare Workers: Cross-sectional Study in a Belgian Population Completed NCT04344145
23 The Impact of Giving a Massage on Perceived Depression, Anxiety and Stress of Massage Therapists: A Randomized Clinical Trial Completed NCT01169480 Early Phase 1
24 Effect of Psychoeducational Group Therapy Model for Bipolar Disorder Patients Completed NCT01152034
25 A Randomized, Controlled, Open Trial Comparing a 17 G Single Lumen Aspiration Needle With a Modified Double Lumen Needle System (STEINER-TAN Needle®) for Follicular Flushing During Oocyte Pick-up in IVF Patients With Poor Ovarian Response Completed NCT02365350
26 Effects of Interventions Based on Acceptance and Commitment Therapy on Psychological Strength, Anxiety Depression and Stress Levels of Parents With Special Needs Children Completed NCT04307706
27 A Mixed Design, With Wait List Control Crossover to Intervention, Clinical Trial of Integrated Yoga Style Practice Intervention for Improving Sleep and Quality of Life in the Elderly Population Completed NCT00661843
28 Mindfulness Based Resilience Training for Employees at Mayo Clinic Completed NCT02419430
29 Lidocaine 5% Patch (Lidoderm) for the Perioperative Prevention of Acute and Chronic Chest Pain Following Robotic Valve Surgery Completed NCT03120351 Lidoderm 5 % Topical Patch;Placebo patch
30 Investigating the Feasibility of Exergame on Sleep and Emotion Among University Students Completed NCT03906396
31 Guided Self-help Based on Acceptance and Commitment Therapy to Reduce Perceived Stress Completed NCT03826732
32 Compassion Cultivation Training (CCT): A Preventive Intervention for Caregivers of People Who Suffer From a Mental Illness Completed NCT03730155
33 A Randomized Controlled Trial of Acceptance and Commitment Therapy (ACT) in Inflammatory Bowel Disease Completed NCT02350920
34 The Effectiveness of the Medicorp House Officer (HO) Preparatory Course for Medical Graduates on Confidence, Readiness, and Psychological Well-Being: A Quasi-Experimental Study Completed NCT03510195
35 Assessing the Mechanism of Change of Functional Analytic Psychotherapy: An Analysis of a Process-Driven Behavioral Intervention Completed NCT03562962
36 The Development and Evaluation of a Brief Self-practice Compassion Focused Therapy (CFT) Intervention as an Adjunct to TAU for Trauma Patients Completed NCT02413307
37 Laughter Yoga for Improving Depression, Anxiety and Stress in People Diagnosed With Major Depressive Disorder: A Feasibility Study Completed NCT03163940
38 Impact of Teaching "Meditation Techniques" on the Mental Health and Quality of Life of Medical Students Completed NCT03132597
39 A Single Blind Randomized Controlled Study Investigating the Effectiveness of a Structured Physical Rehabilitation Program on the Physical Fitness and Negative Psychological Symptoms for Chinese Patients With Mild to Severe Depressive Disorders Completed NCT01536756
40 Impact of a Mobile Application (Pacifica) on Stress, Anxiety, and Depression Completed NCT03333707
41 A Pilot RCT Intervention to Test the Impact of High and Low-intensity Mindfulness-based Cognitive Therapy (MBCT) on Self, Values, and Well-being Completed NCT03079154
42 Community Based Maternal Healthcare Services Completed NCT03678415
43 'Effects of Structured Outpatient Pulmonary Rehabilitation Intervention on Exercise Capacity and Quality of Life in Patients With Severe Chronic Obstructive Pulmonary Disease: A Randomized Controlled Study' Completed NCT02512549
44 Can Cognitive-bias Modification Training During Inpatient Alcohol Detoxification Reduce Relapse Rates Post-discharge? Completed NCT02634476
45 Evaluation of Morbidities, Endpoints and Reaching Targets in Diabetic Patients Managed by an All-encompassing Program Led by a Diabetes Specialist Team (EMERALD) Completed NCT03497390
46 Social-emotional Under 4's Screening & Intervention; A Study of Emotional Health and Development in Babies and Young Children Completed NCT02151955
47 HIV Awal (Early) Testing & Treatment Indonesia Project Implementing 'Test and Treat' Strategies for HIV Treatment and Prevention in Key Populations in Indonesia: a Prospective Implementation Research Study (Intervention Phase) Completed NCT03659253
48 An Online Pain Education Program for Working Adults: a Pilot Randomized Controlled Trial With One-month Follow-up Recruiting NCT03952910
49 Pilot Internet-based Self-Help Program for Managing Corona Stress vs. Waitlist Control Recruiting NCT04394403
50 Influence of Physical Activity on Psychological Responses During Coronavirus Disease (COVID-19) Pandemic: a Multi-center and Observational Study Recruiting NCT04352517

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:

# Genetic test Affiliating Genes
1 Dental Anomalies and Short Stature 29 LTBP3

Anatomical Context for Dental Anomalies and Short Stature

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

40
Testes, Bone, Kidney, Liver

Publications for Dental Anomalies and Short Stature

Articles related to Dental Anomalies and Short Stature:

(show all 13)
# Title Authors PMID Year
1
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. 56 6
29625025 2018
2
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 6 56
25669657 2015
3
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. 56 6
25899461 2015
4
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 56 6
19344874 2009
5
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. 56 6
19213025 2009
6
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. 56
8721563 1996
7
Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India. 61
32432408 2020
8
A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment 61
30468148 2019
9
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. 61
30887145 2019
10
Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome. 61
22766895 2012
11
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. 61
22717651 2012
12
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 61
20648631 2010
13
Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation. 61
14689542 2003

Variations for Dental Anomalies and Short Stature

ClinVar genetic disease variations for Dental Anomalies and Short Stature:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LTBP3 NM_001164266.1(LTBP3):c.-216deldeletion Pathogenic 523637 rs1286042594 11:65325299-65325299 11:65557828-65557828
2 LTBP3 NM_021070.4(LTBP3):c.2248G>T (p.Glu750Ter)SNV Pathogenic 523638 rs1554973844 11:65314018-65314018 11:65546547-65546547
3 LTBP3 NM_021070.4(LTBP3):c.2322C>G (p.Tyr774Ter)SNV Pathogenic 7561 rs121909145 11:65313944-65313944 11:65546473-65546473
4 LTBP3 NM_021070.4(LTBP3):c.1859dup (p.Cys620fs)duplication Pathogenic 204492 rs878853262 11:65315279-65315280 11:65547808-65547809
5 LTBP3 NM_021070.4(LTBP3):c.2071_2084del (p.Tyr691fs)deletion Pathogenic 204493 rs875989822 11:65314933-65314946 11:65547462-65547475
6 LTBP3 NM_021070.4(LTBP3):c.421C>T (p.Gln141Ter)SNV Pathogenic 204494 rs796052116 11:65321762-65321762 11:65554291-65554291
7 LTBP3 NM_021070.4(LTBP3):c.1531+1G>TSNV Pathogenic 204495 rs875989823 11:65319442-65319442 11:65551971-65551971
8 LTBP3 NM_021070.4(LTBP3):c.2216del (p.Gly739fs)deletion Pathogenic 204496 rs752375653 11:65314283-65314283 11:65546812-65546812
9 LTBP3 NM_021070.4(LTBP3):c.2356del (p.Val786fs)deletion Pathogenic 204497 rs875989824 11:65311018-65311018 11:65543547-65543547
10 LTBP3 NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu)SNV Conflicting interpretations of pathogenicity 235669 rs145001056 11:65318944-65318944 11:65551473-65551473
11 LTBP3 NM_001164266.1(LTBP3):c.-272_-270CTG[13]short repeat Conflicting interpretations of pathogenicity 464029 rs71036212 11:65325325-65325326 11:65557854-65557855
12 LTBP3 NM_021070.4(LTBP3):c.989C>T (p.Pro330Leu)SNV Conflicting interpretations of pathogenicity 548546 rs28403592 11:65320709-65320709 11:65553238-65553238
13 LTBP3 NM_001130144.2(LTBP3):c.2380G>A (p.Val794Met)SNV Uncertain significance 577538 rs144309426 11:65310994-65310994 11:65543523-65543523
14 LTBP3 NM_001130144.2(LTBP3):c.2919C>G (p.Asp973Glu)SNV Uncertain significance 565321 rs145041278 11:65308400-65308400 11:65540929-65540929
15 LTBP3 NM_001130144.2(LTBP3):c.1196C>T (p.Pro399Leu)SNV Uncertain significance 570825 rs764981765 11:65319868-65319868 11:65552397-65552397
16 LTBP3 NM_001130144.2(LTBP3):c.751G>A (p.Glu251Lys)SNV Uncertain significance 571639 rs752311785 11:65321285-65321285 11:65553814-65553814
17 LTBP3 NM_001130144.2(LTBP3):c.3696G>A (p.Pro1232=)SNV Uncertain significance 571108 rs1021285127 11:65306863-65306863 11:65539392-65539392
18 LTBP3 NM_001130144.2(LTBP3):c.3685G>A (p.Val1229Met)SNV Uncertain significance 659580 11:65306874-65306874 11:65539403-65539403
19 LTBP3 NM_001130144.2(LTBP3):c.3208C>T (p.Pro1070Ser)SNV Uncertain significance 652023 11:65307752-65307752 11:65540281-65540281
20 LTBP3 NM_001130144.2(LTBP3):c.2232C>A (p.Asp744Glu)SNV Uncertain significance 658909 11:65314034-65314034 11:65546563-65546563
21 LTBP3 NM_001130144.2(LTBP3):c.1354A>G (p.Lys452Glu)SNV Uncertain significance 652201 11:65319620-65319620 11:65552149-65552149
22 LTBP3 NM_001130144.2(LTBP3):c.457G>A (p.Gly153Ser)SNV Uncertain significance 464027 rs373381192 11:65321726-65321726 11:65554255-65554255
23 LTBP3 NM_021070.4(LTBP3):c.3718G>A (p.Gly1240Ser)SNV Uncertain significance 863618 11:65306604-65306604 11:65539133-65539133
24 LTBP3 NM_021070.4(LTBP3):c.2983G>A (p.Asp995Asn)SNV Uncertain significance 847970 11:65308080-65308080 11:65540609-65540609
25 LTBP3 NM_021070.4(LTBP3):c.1846+6C>GSNV Uncertain significance 859766 11:65315385-65315385 11:65547914-65547914
26 LTBP3 NM_021070.4(LTBP3):c.2477-12_2477-3dupduplication Uncertain significance 856916 11:65310697-65310698 11:65543226-65543227
27 LTBP3 NM_001164266.1(LTBP3):c.-272_-270CTG[9]short repeat Uncertain significance 532697 rs71036212 11:65325326-65325328 11:65557855-65557857
28 LTBP3 NM_001130144.2(LTBP3):c.97_105delshort repeat Likely benign 464028 rs71036212 11:65325326-65325334 11:65557855-65557863
29 LTBP3 NM_001130144.2(LTBP3):c.3096G>A (p.Leu1032=)SNV Likely benign 707160 11:65307967-65307967 11:65540496-65540496
30 LTBP3 NM_001130144.2(LTBP3):c.1314G>A (p.Ala438=)SNV Likely benign 707462 11:65319750-65319750 11:65552279-65552279
31 LTBP3 NM_001130144.2(LTBP3):c.318C>T (p.Ser106=)SNV Likely benign 706120 11:65325113-65325113 11:65557642-65557642
32 LTBP3 NM_001130144.2(LTBP3):c.1721-4G>ASNV Likely benign 703584 11:65315520-65315520 11:65548049-65548049
33 LTBP3 NM_001130144.2(LTBP3):c.3372C>T (p.Pro1124=)SNV Likely benign 532700 rs891777322 11:65307497-65307497 11:65540026-65540026
34 LTBP3 NM_001130144.2(LTBP3):c.39T>G (p.Pro13=)SNV Likely benign 735578 11:65325392-65325392 11:65557921-65557921
35 LTBP3 NM_001130144.2(LTBP3):c.1345+7C>TSNV Likely benign 767573 11:65319712-65319712 11:65552241-65552241
36 LTBP3 NM_001130144.2(LTBP3):c.3548-9T>CSNV Benign 532698 rs149115544 11:65307108-65307108 11:65539637-65539637
37 LTBP3 NM_001130144.2(LTBP3):c.3519A>G (p.Gln1173=)SNV Benign 772609 11:65307219-65307219 11:65539748-65539748
38 LTBP3 NM_001130144.2(LTBP3):c.1137T>C (p.Cys379=)SNV Benign 735766 11:65320380-65320380 11:65552909-65552909
39 LTBP3 NM_001130144.2(LTBP3):c.2222C>G (p.Ala741Gly)SNV Benign 532699 rs148780991 11:65314277-65314277 11:65546806-65546806
40 LTBP3 NM_001130144.2(LTBP3):c.804C>T (p.Pro268=)SNV Benign 464026 rs201590889 11:65321232-65321232 11:65553761-65553761
41 LTBP3 NM_001130144.2(LTBP3):c.2889C>T (p.Ser963=)SNV Benign 464025 rs75311576 11:65308601-65308601 11:65541130-65541130
42 LTBP3 NM_001164266.1(LTBP3):c.-272_-270CTG[11]short repeat Benign 464024 rs71036212 11:65325325-65325326 11:65557854-65557855
43 LTBP3 NM_001130144.2(LTBP3):c.3012T>C (p.Ile1004=)SNV Benign 701918 11:65308051-65308051 11:65540580-65540580
44 LTBP3 NM_001130144.2(LTBP3):c.1077C>T (p.Cys359=)SNV Benign 697813 11:65320440-65320440 11:65552969-65552969
45 LTBP3 NM_001130144.2(LTBP3):c.3573C>T (p.Ser1191=)SNV Benign 702827 11:65307074-65307074 11:65539603-65539603
46 LTBP3 NM_001130144.2(LTBP3):c.3435C>T (p.Asp1145=)SNV Benign 706123 11:65307303-65307303 11:65539832-65539832

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

Biological processes related to Dental Anomalies and Short Stature according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.62 SLC13A4 SLC13A3 SLC13A2 SLC13A1
2 anion transmembrane transport GO:0098656 9.56 SLC13A4 SLC13A3 SLC13A2 SLC13A1
3 peptide cross-linking GO:0018149 9.43 IVL CSTA
4 sulfate transport GO:0008272 9.4 SLC13A4 SLC13A1
5 sulfate transmembrane transport GO:1902358 9.37 SLC13A4 SLC13A1
6 succinate transmembrane transport GO:0071422 9.33 SLC13A4 SLC13A3 SLC13A1
7 citrate transport GO:0015746 9.13 SLC13A4 SLC13A3 SLC13A1
8 dicarboxylic acid transport GO:0006835 8.92 SLC13A4 SLC13A3 SLC13A2 SLC13A1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.67 SLC13A4 SLC13A3 SLC13A2 SLC13A1
2 symporter activity GO:0015293 9.62 SLC13A4 SLC13A3 SLC13A2 SLC13A1
3 succinate transmembrane transporter activity GO:0015141 9.33 SLC13A4 SLC13A3 SLC13A1
4 sodium:sulfate symporter activity GO:0015382 9.26 SLC13A4 SLC13A1
5 citrate transmembrane transporter activity GO:0015137 9.13 SLC13A4 SLC13A3 SLC13A1
6 sodium:dicarboxylate symporter activity GO:0017153 8.8 SLC13A4 SLC13A3 SLC13A1

Sources for Dental Anomalies and Short Stature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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