OPSD
MCID: OTP008
MIFTS: 26

Otopalatodigital Syndrome Spectrum Disorder (OPSD)

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

Aliases & Classifications for Otopalatodigital Syndrome Spectrum Disorder

MalaCards integrated aliases for Otopalatodigital Syndrome Spectrum Disorder:

Name: Otopalatodigital Syndrome Spectrum Disorder 12 58 15
Opd Spectrum Disorder 12 58
Opsd 12 58
Fronto-Otopalatodigital Osteodysplasia 12
Otopalatodigital Spectrum Disorder 6

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111782
UMLS via Orphanet 72 C2748918
Orphanet 58 ORPHA364541

Summaries for Otopalatodigital Syndrome Spectrum Disorder

Disease Ontology : 12 A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.

MalaCards based summary : Otopalatodigital Syndrome Spectrum Disorder, also known as opd spectrum disorder, is related to otopalatodigital syndrome, type ii and otopalatodigital syndrome, type i. An important gene associated with Otopalatodigital Syndrome Spectrum Disorder is FLNA (Filamin A), and among its related pathways/superpathways is Malaria. Affiliated tissues include bone.

Related Diseases for Otopalatodigital Syndrome Spectrum Disorder

Diseases in the Otopalatodigital Syndrome Spectrum Disorder family:

Otopalatodigital Syndrome, Type Ii Otopalatodigital Syndrome, Type I

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 33.3 FLNB FLNA
2 otopalatodigital syndrome, type i 33.3 FLNB FLNA
3 frontometaphyseal dysplasia 32.9 MTR FLNB FLNA
4 frank-ter haar syndrome 32.4 SH3PXD2B SH3PXD2A
5 boomerang dysplasia 31.2 FLNB FLNA
6 atelosteogenesis 31.2 FLNB FLNA
7 melnick-needles syndrome 30.1 SLC5A5 SLC14A1 SLC10A2 RHD RHCE PGM1
8 carrion's disease 10.5 GYPB GYPA
9 yunis-varon syndrome 10.4
10 frontometaphyseal dysplasia 1 10.4
11 frontometaphyseal dysplasia 2 10.4
12 brachydactyly 10.4
13 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 10.4 GYPA ACKR1
14 rh isoimmunization 10.4 RHD RHCE FYB1
15 neonatal anemia 10.4 RHD RHCE KEL
16 myopathy, myofibrillar, 5 10.3 FLNB FLNA
17 kernicterus 10.3 RHD RHCE
18 fetal erythroblastosis 10.3 RHD RHCE KEL GYPA
19 blood group incompatibility 10.3 RHD RHCE KEL FYB1
20 retinohepatoendocrinologic syndrome 10.3 RHD RHCE GYPB GYPA
21 hereditary spherocytosis 10.2 RHD GYPB GYPA
22 primary thrombocytopenia 10.2 RHD RHCE
23 hereditary elliptocytosis 10.2 RHD GYPB GYPA ACKR1
24 cleft palate, isolated 10.2
25 glucosephosphate dehydrogenase deficiency 10.1 FREM3 ACKR1
26 odontochondrodysplasia 10.1
27 x-linked otopalatodigital spectrum disorders 10.1
28 skeletal dysplasias 10.1
29 strabismus 10.0
30 terminal osseous dysplasia 10.0
31 branchiootic syndrome 1 10.0
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
33 scoliosis 10.0
34 omphalocele 10.0
35 anterior segment dysgenesis 10.0
36 hyperostosis 10.0
37 craniosynostosis 10.0
38 urinary tract obstruction 10.0
39 mechanical strabismus 10.0
40 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 10.0 GYPA ACKR1

Graphical network of the top 20 diseases related to Otopalatodigital Syndrome Spectrum Disorder:



Diseases related to Otopalatodigital Syndrome Spectrum Disorder

Symptoms & Phenotypes for Otopalatodigital Syndrome Spectrum Disorder

Drugs & Therapeutics for Otopalatodigital Syndrome Spectrum Disorder

Search Clinical Trials , NIH Clinical Center for Otopalatodigital Syndrome Spectrum Disorder

Genetic Tests for Otopalatodigital Syndrome Spectrum Disorder

Anatomical Context for Otopalatodigital Syndrome Spectrum Disorder

MalaCards organs/tissues related to Otopalatodigital Syndrome Spectrum Disorder:

40
Bone

Publications for Otopalatodigital Syndrome Spectrum Disorder

Articles related to Otopalatodigital Syndrome Spectrum Disorder:

# Title Authors PMID Year
1
Organic Position-Sensitive Detectors Based on ZnO:Al and CuPc:C60. 61
27451643 2016
2
Development of omega-3 phospholipid-based solid dispersion of fenofibrate for the enhancement of oral bioavailability. 61
26165620 2015
3
[Psychopharmacology and oral psychosomatic disorder]. 61
22413505 2012
4
Tolerance and analgesic efficacy of a new i.v. paracetamol solution in children after inguinal hernia repair. 61
16029401 2005
5
Building 3D-structural model of kappa opioid receptor and studying its interaction mechanism with dynorphin A(1-8). 61
11501178 2000
6
The superior QRS axis in ostium primum ASD: a proposed mechanism. 61
125536 1975

Variations for Otopalatodigital Syndrome Spectrum Disorder

ClinVar genetic disease variations for Otopalatodigital Syndrome Spectrum Disorder:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.4904_4912del (p.Arg1635_Val1637del)deletion Pathogenic 11762 rs863223298 X:153585835-153585843 X:154357467-154357475
2 FLNA NM_001110556.2(FLNA):c.5182G>T (p.Gly1728Cys)SNV Pathogenic 11768 rs137853316 X:153583228-153583228 X:154354860-154354860

Expression for Otopalatodigital Syndrome Spectrum Disorder

Search GEO for disease gene expression data for Otopalatodigital Syndrome Spectrum Disorder.

Pathways for Otopalatodigital Syndrome Spectrum Disorder

Pathways related to Otopalatodigital Syndrome Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.5 GYPB GYPA ACKR1

GO Terms for Otopalatodigital Syndrome Spectrum Disorder

Cellular components related to Otopalatodigital Syndrome Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.03 GYPB GYPA FREM3 FLNB ACKR1 GYPE
2 integral component of plasma membrane GO:0005887 9.5 SLC14A1 SLC10A2 RHD RHCE GYPE GYPB
3 plasma membrane GO:0005886 9.44 SLC5A5 SLC14A1 SLC10A2 RHD KEL GYPE
4 podosome GO:0002102 9.16 SH3PXD2B SH3PXD2A

Biological processes related to Otopalatodigital Syndrome Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 superoxide metabolic process GO:0006801 9.16 SH3PXD2B SH3PXD2A
2 ammonium transmembrane transport GO:0072488 8.96 RHD RHCE
3 ammonium transport GO:0015696 8.62 RHD RHCE

Molecular functions related to Otopalatodigital Syndrome Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4-phosphate binding GO:0070273 9.26 SH3PXD2B SH3PXD2A
2 phosphatidylinositol-5-phosphate binding GO:0010314 9.16 SH3PXD2B SH3PXD2A
3 ammonium transmembrane transporter activity GO:0008519 8.96 RHD RHCE
4 superoxide-generating NADPH oxidase activator activity GO:0016176 8.62 SH3PXD2B SH3PXD2A

Sources for Otopalatodigital Syndrome Spectrum Disorder

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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