HADDTS
MCID: HYP823
MIFTS: 30

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 58 76 6
Dental Enamel Hypoplasia 45 17
Haddts 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome:
Onset and clinical course phenotypic variability


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 immunodeficiency 10. An important gene associated with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome is CTBP1 (C-Terminal Binding Protein 1). The drugs Salicylic acid and Petrolatum have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are intellectual disability and cerebellar atrophy

Description 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:

# Related Disease Score Top Affiliating Genes
1 shaheen syndrome 11.4
2 immunodeficiency 10 11.2
3 amelogenesis imperfecta 11.2
4 celiac disease 1 10.0

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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 cerebellar atrophy 33 very rare (1%) HP:0001272
3 frontal bossing 33 HP:0002007
4 delayed speech and language development 33 HP:0000750
5 retrognathia 33 HP:0000278
6 gait ataxia 33 HP:0002066
7 inability to walk 33 HP:0002540
8 motor delay 33 HP:0001270
9 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
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

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 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Investigational, Vet_approved Not Applicable 69-72-7 338
2
Petrolatum Approved, Investigational Not Applicable 8009-03-8
3
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
4
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
5
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
6
Racepinephrine Approved Not Applicable 329-65-7 838
7 sodium fluoride Approved Not Applicable 7681-49-4
8
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
9
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
10
Calcium Approved, Nutraceutical 7440-70-2 271
11 Calciferol
12 Bone Density Conservation Agents
13 Ergocalciferols
14 Vitamin D2
15 Hormones
16 Nutrients
17 Trace Elements
18 Vitamins
19 Micronutrients
20 Calcium, Dietary
21 Anesthetics Not Applicable
22 Anesthetics, Local Not Applicable
23 Carticaine Not Applicable
24 Central Nervous System Depressants Not Applicable
25 Peripheral Nervous System Agents Not Applicable
26 Anti-Infective Agents Not Applicable
27 Keratolytic Agents Not Applicable
28 Antifungal Agents Not Applicable
29 Dermatologic Agents Not Applicable
30 Epinephryl borate Not Applicable
31 Z 350 Not Applicable
32 Vitremer Not Applicable
33 Listerine Not Applicable
34 Protective Agents Not Applicable
35 Fluorides Not Applicable
36 Cariostatic Agents Not Applicable
37 Fluorides, Topical Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Effect of Low-intensity Laser and Photodynamic Therapy on Infected Dentin of Permanent Teeth With MIH Completed NCT03826810 Phase 1
2 Prevelance of Molar Incisor Hypomineralization Among a Group of Egyptian Children Unknown status NCT03067064
3 E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent Unknown status NCT02994862 Not Applicable
4 Maternal Vitamin D Levels in Pregnancy and Dental Caries in Children Completed NCT03273725
5 Sealants in Molars Affected by Molar-Incisor Hypomineralization Completed NCT02794116 Not Applicable
6 Restorative Treatment in First Molars Affected by Molar-Incisor Hypomineralization Completed NCT02717286 Not Applicable
7 Comparison of Intraosseous Anaesthesia Using a Computerized System (QuickSleeper) to Conventional Anesthesia Completed NCT02084433 Not Applicable
8 Laser Used in the Treatment of Hypomineralized Occlusal Lesions in Teeth Enamel Affected by MIH Recruiting NCT03614819 Not Applicable
9 Glass Ionomer Cement Sealant (GC Fuji TRIAGE®) in the Prevention of Post-eruptive Fractures in Molars Affected by Molar-Incisor Hipomineralisation: a Randomized Clinical Trial Recruiting NCT03870958 Not Applicable
10 Three Restorative Protocols in MIH: a Randomized Controlled Clinical Study Recruiting NCT03760497 Not Applicable
11 Oral Lesions In Non-Celiac Wheat Sensitivity Patients Recruiting NCT02421809
12 Vital Pulp Therapy in Carious Teeth With Hypomineralization Active, not recruiting NCT03735069 Not Applicable
13 Laser Therapy and Flouride Therapy in Desensibilization Hypomineralized Teeth Enrolling by invitation NCT03823170 Not Applicable
14 Prevalence of Molar Incisor Hypomineralization Among a Group of Egyptian Children in Giza Governorate Enrolling by invitation NCT03233464
15 Oral Findings in a Group of Egyptian Pediatric Patients at Endstage Renal Disease Not yet recruiting NCT03590067
16 Prevalence of Molar Incisor Hypomineralization Among a Group of Egyptian Children From 8 to 12 Years Old in Dakahlia Not yet recruiting NCT03583671
17 Prevalence of Molar Incisor Hypominerlization (MIH) Among a Group of Egyptian Children Not yet recruiting NCT03498209
18 Management of Molar Incisor Hypomineralization With Silver Diamine Flouride Not yet recruiting NCT03862014 Not Applicable
19 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Not yet recruiting NCT03810859 Not Applicable
20 Amelogenesis Imperfecta Terminated NCT01746121

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:

42
Bone, Eye, Testes

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

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

# Title Authors Year
1
The possible correlation between dental enamel hypoplasia and a historic natural disaster in the Roman population of Herculaneum (79 AD - central Italy). ( 24620565 )
2013
2
Patterns in dental enamel hypoplasia by sex and age at death in two archaeological populations. ( 18990363 )
2009
3
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? ( 18183042 )
2008
4
Early childhood stress and adult age mortality--a study of dental enamel hypoplasia in the medieval Danish village of Tirup. ( 16897774 )
2007
5
Lack of association between celiac disease and dental enamel hypoplasia in a case-control study from an Italian central region. ( 17537244 )
2007
6
[Dental enamel hypoplasia apropos of a case]. ( 8620979 )
1996
7
Hypoplastic area method for analyzing dental enamel hypoplasia. ( 8599384 )
1995
8
Frequency and chronological distribution of dental enamel hypoplasia in enslaved African Americans: a test of the weaning hypothesis. ( 7864059 )
1994
9
Incidence and patterning of dental enamel hypoplasia among the Neandertals. ( 2665513 )
1989
10
Prevalence and possible etiology of dental enamel hypoplasia. ( 637120 )
1978

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

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

76
# Symbol AA change Variation ID SNP ID
1 CTBP1 p.Arg342Trp VAR_080622 rs869320802

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTBP1 NM_001012614.1(CTBP1): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs869320802 GRCh38 Chromosome 4, 1213028: 1213028
2 CTBP1 NM_001012614.1(CTBP1): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs869320802 GRCh37 Chromosome 4, 1206816: 1206816

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
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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