OPSD
MCID: XLN240
MIFTS: 20

X-Linked Otopalatodigital Spectrum Disorders (OPSD)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for X-Linked Otopalatodigital Spectrum Disorders

MalaCards integrated aliases for X-Linked Otopalatodigital Spectrum Disorders:

Name: X-Linked Otopalatodigital Spectrum Disorders 24
Otopalatodigital Spectrum Disorders 24 29
Otopalatodigital Syndrome Spectrum Disorder 58
Otopalatodigital Spectrum Disorder 6
Opd Spectrum Disorder 58
Opdsd 24
Opsd 58

Characteristics:

GeneReviews:

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

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2748918
Orphanet 58 ORPHA364541

Summaries for X-Linked Otopalatodigital Spectrum Disorders

MalaCards based summary : X-Linked Otopalatodigital Spectrum Disorders, also known as otopalatodigital spectrum disorders, is related to terminal osseous dysplasia and otopalatodigital syndrome, type ii. An important gene associated with X-Linked Otopalatodigital Spectrum Disorders is FLNA (Filamin A). Affiliated tissues include bone, smooth muscle and small intestine.

GeneReviews: NBK1393

Related Diseases for X-Linked Otopalatodigital Spectrum Disorders

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 terminal osseous dysplasia 10.2
2 otopalatodigital syndrome, type ii 10.2
3 frontometaphyseal dysplasia 1 10.2
4 melnick-needles syndrome 10.2
5 otopalatodigital syndrome, type i 10.2
6 branchiootic syndrome 1 10.2
7 scoliosis 10.2
8 craniosynostosis 10.2
9 frontometaphyseal dysplasia 10.2
10 obsolete: otopalatodigital syndrome 10.2
11 cleft palate, isolated 10.2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 omphalocele 10.1
14 hyperostosis 10.1
15 urinary tract obstruction 10.1
16 skeletal dysplasias 10.1

Graphical network of the top 20 diseases related to X-Linked Otopalatodigital Spectrum Disorders:



Diseases related to X-Linked Otopalatodigital Spectrum Disorders

Symptoms & Phenotypes for X-Linked Otopalatodigital Spectrum Disorders

Drugs & Therapeutics for X-Linked Otopalatodigital Spectrum Disorders

Search Clinical Trials , NIH Clinical Center for X-Linked Otopalatodigital Spectrum Disorders

Genetic Tests for X-Linked Otopalatodigital Spectrum Disorders

Genetic tests related to X-Linked Otopalatodigital Spectrum Disorders:

# Genetic test Affiliating Genes
1 Otopalatodigital Spectrum Disorders 29

Anatomical Context for X-Linked Otopalatodigital Spectrum Disorders

MalaCards organs/tissues related to X-Linked Otopalatodigital Spectrum Disorders:

40
Bone, Smooth Muscle, Small Intestine, Lung, Endothelial

Publications for X-Linked Otopalatodigital Spectrum Disorders

Articles related to X-Linked Otopalatodigital Spectrum Disorders:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 24 61
27193221 2016
2
Fetal phenotypes in otopalatodigital spectrum disorders. 61 24
26404489 2016
3
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. 24
29575627 2018
4
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. 24
29024177 2018
5
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. 24
28348077 2017
6
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 24
27426733 2016
7
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. 24
23032111 2013
8
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. 24
22076441 2012
9
Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects. 24
21773876 2011
10
Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. 24
20871226 2010
11
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. 24
21031081 2010
12
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. 24
20583181 2010
13
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 24
20598277 2010
14
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 24
20186808 2010
15
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 24
19773341 2009
16
[Genetic aspects of valvulopathies]. 24
18223515 2007
17
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 24
17357080 2007
18
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 24
16835913 2006
19
Hyperfractionated, accelerated chemoradiation with concurrent mitomycin-C and cisplatin in locally advanced head and neck cancer, a phase I/II study. 24
16875750 2006
20
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 24
16538226 2006
21
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 24
15994863 2006
22
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. 24
16440074 2006
23
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 24
15654694 2005
24
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 24
15668422 2005
25
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 24
14988809 2004
26
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 24
12612583 2003
27
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 24
12503106 2003
28
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. 24
11857561 2002
29
The oto-palato-digital syndrome: variable clinical expressions. 24
11870342 2002
30
Reelin binds alpha3beta1 integrin and inhibits neuronal migration. 24
10939329 2000
31
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 24
10706363 2000
32
Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction. 24
9722563 1998
33
Cranioplasty in frontometaphyseal dysplasia. 24
9734434 1998
34
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. 24
9268106 1997
35
No mechanical role for vinculin in strain transduction in primary bovine osteoblasts. 24
9192077 1997
36
Otopalatodigital syndrome type II associated with omphalocele: report of three cases. 24
8465856 1993
37
Actin-binding protein requirement for cortical stability and efficient locomotion. 24
1549777 1992
38
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 24
1785627 1991
39
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. 24
2391361 1990
40
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome). 24
3176838 1988
41
Laryngo-tracheal stenosis in frontometaphyseal dysplasia. 24
3343570 1988
42
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. 24
3976718 1985
43
The oto-palato-digital syndrome, proposed type II. 24
6614053 1983
44
Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome. 24
7229752 1981
45
Frontometaphyseal dysplasia--evidence for X-linked inheritance. 24
7395904 1980
46
The oto-palato-digital (OPD) syndrome in females. 24
4513067 1973
47
Frontometaphyseal dysplasia. A new syndrome. 24
5807657 1969
48
Lung disease associated with filamin A gene mutation: a case report. 61
27091362 2016
49
Association of mutations in FLNA with craniosynostosis. 61
25873011 2015
50
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 61
17431908 2007

Variations for X-Linked Otopalatodigital Spectrum Disorders

ClinVar genetic disease variations for X-Linked Otopalatodigital Spectrum Disorders:

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 X-Linked Otopalatodigital Spectrum Disorders

Search GEO for disease gene expression data for X-Linked Otopalatodigital Spectrum Disorders.

Pathways for X-Linked Otopalatodigital Spectrum Disorders

GO Terms for X-Linked Otopalatodigital Spectrum Disorders

Sources for X-Linked Otopalatodigital Spectrum Disorders

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
Content
Loading form....