HADDTS
MCID: HYP823
MIFTS: 27

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 75 6
Haddts 57 75
Dental Enamel Hypoplasia 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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 haddts, 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). Affiliated tissues include eye and testes, and related phenotypes are frontal bossing and intellectual disability

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 11.3
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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 intellectual disability 32 very rare (1%) HP:0001249
3 delayed speech and language development 32 HP:0000750
4 retrognathia 32 HP:0000278
5 gait ataxia 32 HP:0002066
6 inability to walk 32 HP:0002540
7 motor delay 32 HP:0001270
8 cerebellar atrophy 32 very rare (1%) HP:0001272
9 generalized hypotonia 32 HP:0001290

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

Search Clinical Trials , 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:

41
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

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:

75
# Symbol AA change Variation ID SNP ID
1 CTBP1 p.Arg342Trp VAR_080622

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 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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