HADDTS
MCID: HYP823
MIFTS: 28

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS)

Categories: Genetic diseases

Aliases & Classifications for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

MalaCards integrated aliases for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

Name: Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 57 72 6
Dental Enamel Hypoplasia 44 17
Haddts 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
four unrelated patients have been reported (last curated march 2018)


HPO:

31
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

UniProtKB/Swiss-Prot : 72 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome: An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects.

MalaCards based summary : Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome, also known as dental enamel hypoplasia, is related to shaheen syndrome and spondylocarpotarsal synostosis syndrome. An important gene associated with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome is CTBP1 (C-Terminal Binding Protein 1). The drugs sodium fluoride and Olaflur have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are intellectual disability and cerebellar atrophy

More information from OMIM: 617915

Related Diseases for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Diseases related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 shaheen syndrome 11.3
2 spondylocarpotarsal synostosis syndrome 11.1
3 immunodeficiency 10 11.1
4 amelogenesis imperfecta 11.1
5 ataxia and polyneuropathy, adult-onset 10.4
6 hypotonia 10.4
7 celiac disease 1 10.2
8 neurofibromatosis, type i 10.0
9 williams-beuren syndrome 10.0
10 dermatitis herpetiformis, familial 10.0
11 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.0
12 aortic valve disease 2 10.0
13 chromosome 17q11.2 duplication syndrome, 1.4-mb 10.0
14 chromosome 17q11.2 deletion syndrome 10.0
15 dental fluorosis 10.0
16 atrophic glossitis 10.0
17 glossitis 10.0
18 cerebral palsy 10.0
19 dental caries 10.0
20 myopathy 10.0
21 dermatitis herpetiformis 10.0
22 neurofibromatosis 10.0
23 stomatitis 10.0
24 aphthous stomatitis 10.0
25 sutton disease 2 10.0

Graphical network of the top 20 diseases related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:



Diseases related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

Symptoms & Phenotypes for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Human phenotypes related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 cerebellar atrophy 31 very rare (1%) HP:0001272
3 frontal bossing 31 HP:0002007
4 high palate 31 HP:0000218
5 delayed speech and language development 31 HP:0000750
6 retrognathia 31 HP:0000278
7 motor delay 31 HP:0001270
8 deeply set eye 31 HP:0000490
9 gait ataxia 31 HP:0002066
10 feeding difficulties 31 HP:0011968
11 generalized hypotonia 31 HP:0001290
12 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
retrognathia
dysmorphic features (in some patients)

Neurologic Central Nervous System:
inability to walk
delayed motor development
ataxic gait
speech delay
cerebellar atrophy (in some patients)
more
Head And Neck Mouth:
high-arched palate

Head And Neck Teeth:
enamel defects
discolored teeth
soft enamel

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia
nonspecific dystrophic changes

Head And Neck Eyes:
deep-set eyes

Clinical features from OMIM®:

617915 (Updated 20-May-2021)

Drugs & Therapeutics for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Drugs for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
sodium fluoride Approved Phase 1, Phase 2 7681-49-4
2
Olaflur Experimental Phase 1, Phase 2 6818-37-7
3 Fluorides Phase 1, Phase 2
4 Listerine Phase 1, Phase 2
5 Anti-Bacterial Agents Phase 1
6 Anti-Infective Agents Phase 1
7
Ethanol Approved 64-17-5 702
8
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
9
Petrolatum Approved, Investigational 8009-03-8
10
Epinephrine Approved, Vet_approved 51-43-4 5816
11
Racepinephrine Approved 329-65-7 838
12
Lidocaine Approved, Vet_approved 137-58-6 3676
13
Ibuprofen Approved Early Phase 1 15687-27-1 3672
14
Chromium Approved 7440-47-3 27668
15
Papain Approved 9001-73-4
16
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
17 Vitremer
18 Carticaine
19 Vitamins
20 Calciferol
21 Anesthetics
22 Epinephryl borate
23 Z 350
24 Antirheumatic Agents Early Phase 1
25 Anti-Inflammatory Agents Early Phase 1
26 Cyclooxygenase Inhibitors Early Phase 1
27 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
28 Analgesics Early Phase 1
29 Analgesics, Non-Narcotic Early Phase 1
30 Trace Elements
31 Nutrients
32 Micronutrients
33
Nickel 7440-02-0 934
34 Protective Agents

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Control of Pain Due to Dentin Hypersensitivity in Individuals With Molar-incisor Hypomineralization: Study Protocol for a Randomized, Controlled, Clinical Trial Not yet recruiting NCT04407702 Phase 1, Phase 2
2 Antimicrobial Photodynamic Therapy on Teeth With Molar Incisor Hypomineralization - a Randomized, Controlled, Clinical Trial Unknown status NCT03904641 Phase 1
3 Effect of Low-intensity Laser and Photodynamic Therapy on Infected Dentin of Permanent Teeth With MIH - Controlled Clinical Trial Completed NCT03826810 Phase 1
4 Prevalence of Molar Incisor Hypominerlization (MIH) Among a Group of Egyptian Children: A Cross Sectional Study Unknown status NCT03498209
5 Prevalence of Molar Incisor Hypomineralization Among a Group of Egyptian Children Aged From Eight to Twelve Years Old in Dakahlia Governorate: A Cross Sectional Study Unknown status NCT03583671
6 Prevalence of Molar Incisor Hypomineralization Among a Group of Egyptian Children in Giza Governorate: A Cross Sectional Study Unknown status NCT03233464
7 Prevelance of Molar Incisors Hypomineralization Among a Group of Egyptian Children Unknown status NCT03067064
8 Survival of Restorative Treatment in First Molars Affected by Molar-Incisor Hypomineralization Completed NCT02717286
9 Outcome of Vital Pulp Therapy in Carious Teeth With Hypomineralization Defects: a Clinical Study Completed NCT03735069
10 "Knowledge, Awareness and Perception Regarding Molar-Incisor Hypomineralization Among General Dental Practitioners, Dental Specialists and Dental Students in Egypt" Completed NCT04231019
11 Survival of Sealants in Molars Affected by Molar-Incisor Hypomineralization Completed NCT02794116
12 Comparison of Intraosseous Anaesthesia Using a Computerized System (QuickSleeper) to Conventional Anesthesia Completed NCT02084433
13 Effectiveness Of Local Anesthesia In Molar Teeth With Molar Incisor Hypomineralization-A Prospective Study Completed NCT04061096
14 Clinical Evaluation of the Effect of Resin Infiltration Treatment on Hypomineralised Enamel Surfaces Completed NCT04685889
15 The TRIP-Tooth Study: Maternal Pre- and Postnatal Vitamin D Levels and Dental Caries in Children 7-9 Years of Age. Completed NCT03273725
16 Laser Used in the Treatment of Hypomineralized Occlusal Lesions in Teeth Enamel Affected by MIH: a Randomized Controlled Clinical Study Recruiting NCT03614819
17 Comparison of Three Restorative Protocols in Teeth With Molar-Incisor Hipomineralization (MIH): a Randomized Controlled Clinical Study Recruiting NCT03760497
18 Restoration of Permanent Molars Affected With Molar-incisor-hypomineralization (MIH) Among a Group of Egyptian Children Using Composite Restorations or Preformed Metal Crowns: Two-arm Randomized Controlled Trial (Part II) Recruiting NCT04654858
19 Prevalence of Molar Incisor Hypo Mineralization Among Children Who Have Been Treated With Asthmatic Drugs During Their First Three Years of Life(A Cross- Sectional Study) Recruiting NCT04103710
20 Restoration of Permanent Molars Affected With Molar-incisor-hypomineralization (MIH) Among a Group of Egyptian Children Using Composite Restorations or Preformed Metal Crowns : Two-arm Randomized Controlled Trial (Part III) Recruiting NCT04658602
21 Effectiveness of Pre-emptive Analgesia in Children With Molar-incisor Hypomineralization (MIH): Triple-blind Clinal Study, Randomized and Controlled by Placebo Recruiting NCT03953729 Early Phase 1 Ibuprofen;Placebo
22 "A Comparison of Two Different Management Techniques for Extensive Molar Defects in Patients Suffering From Molar Incisor Hypomineralization (MIH)" (Randomized Clinical Trial) Active, not recruiting NCT04209920
23 Cost-effectiveness of the Application of Glass Ionomer Cement Sealant (GC Fuji TRIAGE®) in the Prevention of Post-eruptive Fractures in Molars Affected by Molar-Incisor Hipomineralisation: Controlled and Randomized Clinical Trial Active, not recruiting NCT03870958
24 The Use of Silver Diamine Fluoride and Papain-Based Gel for Management of MIH-affected Molar in Paediatric Patients: A Randomised Controlled Trial Active, not recruiting NCT04710927
25 Clinical Evaluation of Permanent Molars With Molar Incisor Hypomineralization Treated With Silver Diamine Flouride or Silver Diamine Flouride+Atraumatic Restorative Technique Active, not recruiting NCT03862014
26 Effects of Biomimetic Hydroxyapatite in the Treatment of Molar Incisor Hypomineralization: a Randomized Clinical Trial. Enrolling by invitation NCT04808180
27 Prevalence of Molar Incisor Hypomineralization Among a Group of Egyptian Children in Fayoum Governorate Schools: A Cross Sectional Study Not yet recruiting NCT04420520
28 Prevalence of Molar Incisor Hypomineralization Among a Group Of Egyptian Children Aged From 8 to 12 Years Old in Damietta Not yet recruiting NCT04410172
29 Restoration Quality in Molars Affected by Molar-incisor-hypomineralization Using Composite Restorations or Preformed Metal Crowns: Two-arm Randomized Controlled Trial. Not yet recruiting NCT04475419
30 Knowledge Regarding Diagnosis of Molar Incisor Hypomineralization Among Dental Interns in Faculty of Dentistry Cairo University Not yet recruiting NCT04030936
31 A Comparison of the Effectiveness of Resin Infiltration Treatment Versus a Combined Treatment of Microabrasion and Resin Infiltration for the Management of Affected Incisors in Molar Incisor Hypomineralization (MIH) Cases Not yet recruiting NCT04471571
32 Restoration of Permanent Molars Affected With Molar-incisor-hypomineralization (MIH) Among a Group of Egyptian Children Using Composite Restorations or Preformed Metal Crowns: Two-arm Randomized Controlled Trial (Part I) Not yet recruiting NCT04369768

Search NIH Clinical Center for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

Cochrane evidence based reviews: dental enamel hypoplasia

Genetic Tests for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Anatomical Context for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

MalaCards organs/tissues related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

40
Eye

Publications for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Articles related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

# Title Authors PMID Year
1
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. 6 57
27094857 2016
2
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation. 61
32167997 2020

Variations for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

ClinVar genetic disease variations for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTBP1 , CTBP1-AS NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) SNV Pathogenic 225758 rs869320802 GRCh37: 4:1206816-1206816
GRCh38: 4:1213028-1213028
2 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Uncertain significance 684727 rs1571122183 GRCh37: 1:150769360-150769360
GRCh38: 1:150796884-150796884
3 CTBP1 NM_001012614.2(CTBP1):c.286A>G (p.Ile96Val) SNV Uncertain significance 931404 GRCh37: 4:1222008-1222008
GRCh38: 4:1228220-1228220

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 CTBP1 p.Arg342Trp VAR_080622 rs869320802

Expression for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Search GEO for disease gene expression data for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome.

Pathways for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

GO Terms for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Sources for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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