MCID: OTP003
MIFTS: 19

Oto-Palatal-Digital Syndrome

Categories: Rare diseases

Aliases & Classifications for Oto-Palatal-Digital Syndrome

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:



External Ids:

UMLS 71 C0265251

Summaries for Oto-Palatal-Digital Syndrome

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).

Related Diseases for Oto-Palatal-Digital Syndrome

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



Diseases related to Oto-Palatal-Digital Syndrome

Symptoms & Phenotypes for Oto-Palatal-Digital Syndrome

Drugs & Therapeutics for Oto-Palatal-Digital Syndrome

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

Genetic Tests for Oto-Palatal-Digital Syndrome

Anatomical Context for Oto-Palatal-Digital Syndrome

Publications for Oto-Palatal-Digital Syndrome

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

Variations for Oto-Palatal-Digital Syndrome

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

Expression for Oto-Palatal-Digital Syndrome

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

Pathways for Oto-Palatal-Digital Syndrome

GO Terms for Oto-Palatal-Digital Syndrome

Sources for Oto-Palatal-Digital Syndrome

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
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33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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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