MCID: OTP002
MIFTS: 14

Otopalatodigital Spectrum Disorders

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Otopalatodigital Spectrum Disorders

MalaCards integrated aliases for Otopalatodigital Spectrum Disorders:

Name: Otopalatodigital Spectrum Disorders 24 29
Otopalatodigital Spectrum Disorder 29 6 73

Characteristics:

GeneReviews:

24
Penetrance Penetrance in males with an flna pathogenic variant leading to an opd spectrum disorder is complete...

Classifications:



External Ids:

UMLS 73 C2748918

Summaries for Otopalatodigital Spectrum Disorders

MalaCards based summary : Otopalatodigital Spectrum Disorders, also known as otopalatodigital spectrum disorder, is related to melnick-needles syndrome and frontometaphyseal dysplasia. An important gene associated with Otopalatodigital Spectrum Disorders is FLNA (Filamin A).

GeneReviews: NBK1393

Related Diseases for Otopalatodigital Spectrum Disorders

Diseases in the Otopalatodigital Spectrum Disorders family:

Otopalatodigital Syndrome, Type Ii Otopalatodigital Syndrome, Type I

Diseases related to Otopalatodigital Spectrum Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 melnick-needles syndrome 11.2
2 frontometaphyseal dysplasia 11.1
3 otopalatodigital syndrome, type ii 11.0
4 otopalatodigital syndrome, type i 11.0

Symptoms & Phenotypes for Otopalatodigital Spectrum Disorders

Drugs & Therapeutics for Otopalatodigital Spectrum Disorders

Search Clinical Trials , NIH Clinical Center for Otopalatodigital Spectrum Disorders

Genetic Tests for Otopalatodigital Spectrum Disorders

Genetic tests related to Otopalatodigital Spectrum Disorders:

# Genetic test Affiliating Genes
1 Otopalatodigital Spectrum Disorders 29
2 Otopalatodigital Spectrum Disorder 29

Anatomical Context for Otopalatodigital Spectrum Disorders

Publications for Otopalatodigital Spectrum Disorders

Articles related to Otopalatodigital Spectrum Disorders:

# Title Authors Year
1
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. ( 27193221 )
2016
2
Fetal phenotypes in otopalatodigital spectrum disorders. ( 26404489 )
2015
3
A novel 9 bp deletion in the filamin A gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. ( 15654694 )
2005
4
Otopalatodigital Spectrum Disorders ( 20301567 )
1993

Variations for Otopalatodigital Spectrum Disorders

ClinVar genetic disease variations for Otopalatodigital Spectrum Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.4904_4912delGTGCCGTGC (p.Arg1635_Val1637del) deletion Pathogenic rs863223298 GRCh37 Chromosome X, 153585835: 153585843
2 FLNA NM_001110556.1(FLNA): c.4904_4912delGTGCCGTGC (p.Arg1635_Val1637del) deletion Pathogenic rs863223298 GRCh38 Chromosome X, 154357467: 154357475
3 FLNA NM_001110556.1(FLNA): c.5182G> T (p.Gly1728Cys) single nucleotide variant Pathogenic rs137853316 GRCh37 Chromosome X, 153583228: 153583228
4 FLNA NM_001110556.1(FLNA): c.5182G> T (p.Gly1728Cys) single nucleotide variant Pathogenic rs137853316 GRCh38 Chromosome X, 154354860: 154354860

Expression for Otopalatodigital Spectrum Disorders

Search GEO for disease gene expression data for Otopalatodigital Spectrum Disorders.

Pathways for Otopalatodigital Spectrum Disorders

GO Terms for Otopalatodigital Spectrum Disorders

Sources for Otopalatodigital Spectrum Disorders

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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