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MCID: OTP003
MIFTS: 19

Oto-Palatal-Digital Syndrome

Categories: Rare diseases
Genes Variations Related diseases Publications
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Aliases & Classifications for Oto-Palatal-Digital Syndrome

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MalaCards integrated aliases for Oto-Palatal-Digital Syndrome:

Name: Oto-Palatal-Digital Syndrome 20 6
Oto-Palato-Digital Syndrome Type 1 71
Type 2 Andre Syndrome 20

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0265251
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Summaries for Oto-Palatal-Digital Syndrome

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MalaCards based summary : Oto-Palatal-Digital Syndrome, also known as oto-palato-digital syndrome type 1, is related to otopalatodigital syndrome, type ii and diabetes insipidus, nephrogenic, autosomal. An important gene associated with Oto-Palatal-Digital Syndrome is FLNA (Filamin A).

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Related Diseases for Oto-Palatal-Digital Syndrome

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Diseases related to Oto-Palatal-Digital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 29.7 LOC107988032 FLNA
2 diabetes insipidus, nephrogenic, autosomal 10.1
3 hydrocephalus with cerebellar agenesis 10.1
4 cerebellar hypoplasia 10.1
5 hydrocephalus 10.1
6 diabetes insipidus 10.1
7 x-linked otopalatodigital spectrum disorders 10.1
8 congenital hydrocephalus 10.1
9 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 9.8 LOC107988032 FLNA
10 flna-related periventricular nodular heterotopia 9.8 LOC107988032 FLNA
11 periventricular nodular heterotopia 9.8 LOC107988032 FLNA
12 fg syndrome 2 9.8 LOC107988032 FLNA
13 periventricular nodular heterotopia 1 9.8 LOC107988032 FLNA
14 terminal osseous dysplasia 9.7 LOC107988032 FLNA
15 frontometaphyseal dysplasia 1 9.7 LOC107988032 FLNA
16 frontometaphyseal dysplasia 9.7 LOC107988032 FLNA
17 cardiac valvular dysplasia, x-linked 9.7 LOC107988032 FLNA
18 blood group, i system 9.6 LOC107988032 FLNA
19 melnick-needles syndrome 9.6 LOC107988032 FLNA
20 nodular neuronal heterotopia 9.5 LOC107988032 FLNA

Graphical network of the top 20 diseases related to Oto-Palatal-Digital Syndrome:



Diseases related to Oto-Palatal-Digital Syndrome
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Symptoms & Phenotypes for Oto-Palatal-Digital Syndrome

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Drugs & Therapeutics for Oto-Palatal-Digital Syndrome

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Search Clinical Trials , NIH Clinical Center for Oto-Palatal-Digital Syndrome

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Genetic Tests for Oto-Palatal-Digital Syndrome

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Anatomical Context for Oto-Palatal-Digital Syndrome

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Publications for Oto-Palatal-Digital Syndrome

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Articles related to Oto-Palatal-Digital Syndrome:

# Title Authors PMID Year
1
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 6
19773341 2009
2
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 6
17431908 2007
3
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
4
Filamin A: phenotypic diversity. 6
15917206 2005
5
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 61
1785627 1991
6
Oto-palato-digital syndrome in an Iranian infant. 61
2555708 1989
7
[Urethral valves and nephrogenic diabetes insipidus associated with oto-palatal digital syndrome]. 61
727008 1978
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Variations for Oto-Palatal-Digital Syndrome

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ClinVar genetic disease variations for Oto-Palatal-Digital Syndrome:

6 (show top 50) (show all 609)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) SNV Pathogenic 11773 rs137853318 X:153596100-153596100 X:154367732-154367732
2 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 X:153588495-153588495 X:154360127-154360127
3 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 X:153581697-153581698 X:154353329-154353330
4 FLNA NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) SNV Pathogenic 11759 rs28935473 X:153588567-153588567 X:154360199-154360199
5 LOC107988032 NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 X:153577381-153577382 X:154349013-154349014
6 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 X:153585895-153585907 X:154357527-154357539
7 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 X:153594986-153594987 X:154366618-154366619
8 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 X:153588634-153588634 X:154360266-154360266
9 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 X:153588265-153588265 X:154359897-154359897
10 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 X:153588606-153588606 X:154360238-154360238
11 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 X:153582326-153582326 X:154353958-154353958
12 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 X:153596053-153596053 X:154367685-154367685
13 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 X:153586596-153586596 X:154358228-154358228
14 LOC107988032 NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 X:153577288-153577289 X:154348920-154348921
15 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 X:153581806-153581807 X:154353438-154353439
16 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 X:153588214-153588214 X:154359846-154359846
17 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 X:153590899-153590899 X:154362531-154362531
18 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 X:153588859-153588867 X:154360491-154360499
19 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 X:153590785-153590785 X:154362417-154362417
20 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 X:153594961-153594961 X:154366593-154366593
21 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 X:153582022-153582022 X:154353654-154353654
22 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 X:153594745-153594745 X:154366377-154366377
23 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 X:153583193-153583193 X:154354825-154354825
24 LOC107988032 NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) Microsatellite Pathogenic 938503 X:153577873-153577874 X:154349505-154349506
25 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) Deletion Pathogenic 940733 X:153592978-153592984 X:154364610-154364616
26 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 941466 X:153588421-153588421 X:154360053-154360053
27 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic 234717 rs782308324 X:153578477-153578477 X:154350109-154350109
28 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) Duplication Pathogenic 959608 X:153591149-153591150 X:154362781-154362782
29 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) Deletion Pathogenic 964600 X:153580732-153580732 X:154352364-154352364
30 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic 967048 X:153594817-153594817 X:154366449-154366449
31 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic 959369 X:153585923-153585923 X:154357555-154357555
32 FLNA NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) SNV Pathogenic 11756 rs28935470 X:153595873-153595873 X:154367505-154367505
33 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic 11772 rs137853317 X:153596246-153596246 X:154367878-154367878
34 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 11772 rs137853317 X:153596246-153596246 X:154367878-154367878
35 LOC107988032 NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) Microsatellite Likely pathogenic 854776 X:153577388-153577390 X:154349020-154349022
36 FLNA NM_001110556.2(FLNA):c.2827-2A>C SNV Likely pathogenic 859086 X:153590157-153590157 X:154361789-154361789
37 FLNA NM_001110556.2(FLNA):c.1065+1G>T SNV Likely pathogenic 841425 X:153594929-153594929 X:154366561-154366561
38 FLNA NM_001110556.2(FLNA):c.4142+1G>A SNV Likely pathogenic 662049 rs1603360906 X:153587851-153587851 X:154359483-154359483
39 FLNA NM_001110556.2(FLNA):c.4596_4598+5del Deletion Likely pathogenic 464993 rs1557177279 X:153586808-153586815 X:154358440-154358447
40 FLNA NM_001110556.2(FLNA):c.4143-1G>T SNV Likely pathogenic 464989 rs1557177485 X:153587775-153587775 X:154359407-154359407
41 FLNA NM_001110556.2(FLNA):c.5686+1G>C SNV Likely pathogenic 533566 rs1557176315 X:153582282-153582282 X:154353914-154353914
42 FLNA NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) SNV Uncertain significance 533567 rs1557175646 X:153579378-153579378 X:154351010-154351010
43 FLNA NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) SNV Uncertain significance 533568 rs1557178932 X:153593582-153593582 X:154365214-154365214
44 FLNA NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) SNV Uncertain significance 533569 rs1557177627 X:153588218-153588218 X:154359850-154359850
45 FLNA NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) SNV Uncertain significance 435211 rs1557175878 X:153580284-153580284 X:154351916-154351916
46 FLNA NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) SNV Uncertain significance 533570 rs1557175818 X:153579999-153579999 X:154351631-154351631
47 LOC107988032 NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) SNV Uncertain significance 533571 rs782341270 X:153577261-153577261 X:154348893-154348893
48 FLNA NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) SNV Uncertain significance 423675 rs781827791 X:153594681-153594681 X:154366313-154366313
49 FLNA NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) SNV Uncertain significance 533572 rs1557178045 X:153589918-153589918 X:154361550-154361550
50 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain significance 533573 rs369668866 X:153588903-153588903 X:154360535-154360535
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Expression for Oto-Palatal-Digital Syndrome

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Search GEO for disease gene expression data for Oto-Palatal-Digital Syndrome.
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Pathways for Oto-Palatal-Digital Syndrome

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GO Terms for Oto-Palatal-Digital Syndrome

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Sources for Oto-Palatal-Digital Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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