MCID: OTP003
MIFTS: 36

Oto-Palatal-Digital Syndrome

Categories: Rare diseases
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Aliases & Classifications for Oto-Palatal-Digital Syndrome

MalaCards integrated aliases for Oto-Palatal-Digital Syndrome:

Name: Oto-Palatal-Digital Syndrome 19 5
Oto-Palato-Digital Syndrome Type 1 71
Type 2 19

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 frontometaphyseal dysplasia and melnick-needles syndrome. An important gene associated with Oto-Palatal-Digital Syndrome is FLNA (Filamin A). Affiliated tissues include skeletal muscle, kidney and liver.

Related Diseases for Oto-Palatal-Digital Syndrome

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

(show top 50) (show all 3920)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 31.0 LOC107988032 FLNA
2 melnick-needles syndrome 30.7 LOC107988032 FLNA
3 otopalatodigital syndrome, type ii 29.7 LOC107988032 FLNA
4 patent ductus arteriosus 1 28.9 LOC107988032 FLNA
5 patent foramen ovale 28.5 LOC107988032 FLNA
6 type 2 diabetes mellitus 12.1
7 diabetes mellitus 11.8
8 acoustic neuroma 11.7
9 griscelli syndrome, type 2 11.6
10 charcot-marie-tooth disease, axonal, type 2e 11.6
11 spinocerebellar ataxia 2 11.6
12 von willebrand disease, type 2 11.6
13 autoimmune polyendocrine syndrome, type ii 11.6
14 multiple endocrine neoplasia, type iia 11.6
15 bile acid synthesis defect, congenital, 2 11.5
16 immunodeficiency with hyper-igm, type 2 11.5
17 hemochromatosis type 2 11.5
18 episodic ataxia, type 2 11.5
19 spastic paraplegia 2, x-linked 11.5
20 atelosteogenesis, type ii 11.5
21 myotonic dystrophy 2 11.5
22 prediabetes syndrome 11.5
23 neurofibromatosis, type ii 11.5
24 stuve-wiedemann syndrome 1 11.5
25 waardenburg syndrome, type 2e 11.5
26 lipodystrophy, familial partial, type 2 11.5
27 gm1-gangliosidosis, type ii 11.5
28 hyperoxaluria, primary, type ii 11.5
29 hyperprolinemia, type ii 11.5
30 dentinogenesis imperfecta 1 11.5
31 generalized epilepsy with febrile seizures plus, type 2 11.5
32 ehlers-danlos syndrome, spondylodysplastic type, 2 11.5
33 pontocerebellar hypoplasia, type 2e 11.5
34 gaucher disease, type ii 11.4
35 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.4
36 maturity-onset diabetes of the young, type 1 11.4
37 neuropathy, hereditary sensory and autonomic, type iia 11.4
38 mucopolysaccharidosis, type ii 11.4
39 multiple acyl-coa dehydrogenase deficiency 11.4
40 albinism, oculocutaneous, type ii 11.4
41 familial cold autoinflammatory syndrome 2 11.4
42 palmoplantar keratoderma, punctate type ii 11.4
43 cholestasis, progressive familial intrahepatic, 2 11.4
44 mohr syndrome 11.4
45 anemia, congenital dyserythropoietic, type ii 11.4
46 blepharophimosis, ptosis, and epicanthus inversus 11.4
47 anterior segment dysgenesis 4 11.4
48 rothmund-thomson syndrome, type 2 11.4
49 pseudohypoaldosteronism, type iie 11.4
50 simpson-golabi-behmel syndrome, type 2 11.4

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

Organs/tissues related to Oto-Palatal-Digital Syndrome:

MalaCards : Skeletal Muscle, Kidney, Liver, Endothelial, Heart, Bone Marrow, Brain

Publications for Oto-Palatal-Digital Syndrome

Articles related to Oto-Palatal-Digital Syndrome:

(show top 50) (show all 30016)
# Title Authors PMID Year
1
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. 5
26059841 2016
2
47 patients with FLNA associated periventricular nodular heterotopia. 5
26471271 2015
3
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 5
20730588 2011
4
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 5
19773341 2009
5
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 5
17431908 2007
6
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 5
17264970 2007
7
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 5
16835913 2006
8
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 5
16684786 2006
9
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 5
16596676 2006
10
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
11
Filamin A: phenotypic diversity. 5
15917206 2005
12
Molecular pathology of filamin A: diverse phenotypes, many functions. 5
15194946 2004
13
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 5
12612583 2003
14
Chinese patients with type 2 diabetes mellitus and nonalcoholic fatty liver disease have lower serum osteocalcin levels compared to individuals with type 2 diabetes mellitus and no liver disease: a single-center cross-sectional study. 62
35829988 2022
15
SGLT2-inhibitors reduce the cardiac autonomic neuropathy dysfunction and vaso-vagal syncope recurrence in patients with type 2 diabetes mellitus: the SCAN study. 62
35732222 2022
16
Genetic and phenotypic stability of poliovirus shed from infants who received novel type 2 or Sabin type 2 oral poliovirus vaccines in Panama: an analysis of two clinical trials. 62
36332645 2022
17
Management of Hyperglycemia in Type 2 Diabetes, 2022. A Consensus Report by the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). 62
36148880 2022
18
Hypoxia-driven immunosuppression by Treg and type-2 conventional dendritic cells in HCC. 62
35184329 2022
19
Analyzing failures in adoption of smart technologies for medical waste management systems: a type-2 neutrosophic-based approach. 62
34554402 2022
20
Suppression of knee joint osteoarthritis induced secondary to type 2 diabetes mellitus in rats by resveratrol: role of glycated haemoglobin and hyperlipidaemia and biomarkers of inflammation and oxidative stress. 62
32497450 2022
21
Executive summary on the treatment of type 2 diabetes mellitus in elderly or frail individuals. 2022 update of the 2018 consensus document "Treatment of type 2 diabetes mellitus in the elderly". 62
35753941 2022
22
Banting memorial lecture 2022: 'Type 2 diabetes and nonalcoholic fatty liver disease: Partners in crime'. 62
35790023 2022
23
Variation in the expression level of MALAT1, MIAT and XIST lncRNAs in coronary artery disease patients with and without type 2 diabetes mellitus. 62
32447981 2022
24
Insulin resistance and beta-cell dysfunction in newly diagnosed type 2 diabetes: Expression, aggregation and predominance. Verona Newly Diagnosed Type 2 Diabetes Study 10. 62
35717608 2022
25
In vivo Imaging of Cannabinoid Type 2 Receptors: Functional and Structural Alterations in Mouse Model of Cerebral Ischemia by PET and MRI. 62
34642898 2022
26
Efficacy and safety of tirzepatide monotherapy compared with dulaglutide in Japanese patients with type 2 diabetes (SURPASS J-mono): a double-blind, multicentre, randomised, phase 3 trial. 62
35914543 2022
27
Vaginal and Penile Microbiome Associations With Herpes Simplex Virus Type 2 in Women and Their Male Sex Partners. 62
32822500 2022
28
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. 62
35674741 2022
29
Type 2 diabetes mellitus in metabolic-associated fatty liver disease vs. type 2 diabetes mellitus Non-alcoholic fatty liver disease: A longitudinal cohort analysis. 62
36182031 2022
30
Specific metabolic syndrome components predict cognition and social functioning in people with type 2 diabetes mellitus and severe mental disorders. 62
35359023 2022
31
Effect of a ketogenic diet versus Mediterranean diet on glycated hemoglobin in individuals with prediabetes and type 2 diabetes mellitus: The interventional Keto-Med randomized crossover trial. 62
35641199 2022
32
Cardiovascular outcomes with GLP-1 receptor agonists vs. SGLT-2 inhibitors in patients with type 2 diabetes. 62
34215881 2022
33
Enhancing type 2 diabetes treatment through digital plans of care. First results from the East Cheshire Study of an App to support people in the management of type 2 diabetes. 62
35923172 2022
34
Type 2 or Non-Type 2 Asthma Exacerbations? That Is the Question. 62
35584351 2022
35
Low- and middle-income countries demonstrate rapid growth of type 2 diabetes: an analysis based on Global Burden of Disease 1990-2019 data. 62
35587275 2022
36
Three months of melatonin treatment reduces insulin sensitivity in patients with type 2 diabetes-A randomized placebo-controlled crossover trial. 62
35619221 2022
37
Understanding strategies to improve medication adherence among persons with type 2 diabetes: A scoping review: Scoping review of medication adherence strategies in type 2 diabetes. 62
35996880 2022
38
One Drop Improves Productivity for Workers With Type 2 Diabetes: One Drop for Workers With Type 2 Diabetes. 62
35672921 2022
39
Hyperoside attenuates neuroinflammation, cognitive impairment and oxidative stress via suppressing TNF-α/NF-κB/caspase-3 signaling in type 2 diabetes rats. 62
33722183 2022
40
Evaluation of changing the pattern of CTRP5 and inflammatory markers levels in patients with coronary artery disease and type 2 diabetes mellitus. 62
32202952 2022
41
[18F]FDG and [18F]NaF as PET markers of systemic atherosclerosis progression: A longitudinal descriptive imaging study in patients with type 2 diabetes mellitus. 62
34519008 2022
42
Omega-3 polyunsaturated fatty acid biomarkers and risk of type 2 diabetes, cardiovascular disease, cancer, and mortality. 62
35830775 2022
43
Management of type 2 diabetes with the dual GIP/GLP-1 receptor agonist tirzepatide: a systematic review and meta-analysis. 62
35579691 2022
44
PDIA3 epitope-driven immune autoreactivity contributes to hepatic damage in type 2 diabetes. 62
35984892 2022
45
Bidirectional causal associations between type 2 diabetes and COVID-19. 62
36029131 2022
46
Role of branched-chain amino acid metabolism in the pathogenesis of obesity and type 2 diabetes-related metabolic disturbances BCAA metabolism in type 2 diabetes. 62
35931683 2022
47
Association of gut microbiota with glycaemic traits and incident type 2 diabetes, and modulation by habitual diet: a population-based longitudinal cohort study in Chinese adults. 62
35357559 2022
48
Pro-α-cell-derived β-cells contribute to β-cell neogenesis induced by antagonistic glucagon receptor antibody in type 2 diabetic mice. 62
35789836 2022
49
Sodium-glucose co-transporter-2 inhibitors in patients with type 2 diabetes: Barriers and solutions for improving uptake in routine clinical practice. 62
35238129 2022
50
Evaluation of associations between estimates of particulate matter exposure and new onset type 2 diabetes in the REGARDS cohort. 62
34657127 2022

Variations for Oto-Palatal-Digital Syndrome

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

5 (show top 50) (show all 1552)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) INDEL Pathogenic
662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
2 FLNA NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) SNV Pathogenic
11773 rs137853318 GRCh37: X:153596100-153596100
GRCh38: X:154367732-154367732
3 FLNA NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter) SNV Pathogenic
1383677 GRCh37: X:153581201-153581201
GRCh38: X:154352833-154352833
4 FLNA NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs) DUP Pathogenic
1399735 GRCh37: X:153578445-153578446
GRCh38: X:154350077-154350078
5 FLNA NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs) INSERT Pathogenic
1407335 GRCh37: X:153592478-153592479
GRCh38: X:154364110-154364111
6 FLNA NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs) DEL Pathogenic
1457183 GRCh37: X:153579964-153579967
GRCh38: X:154351596-154351599
7 FLNA NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter) SNV Pathogenic
1455761 GRCh37: X:153580261-153580261
GRCh38: X:154351893-154351893
8 FLNA NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs) DEL Pathogenic
1456389 GRCh37: X:153587636-153587636
GRCh38: X:154359268-154359268
9 FLNA NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) SNV Pathogenic
1457377 GRCh37: X:153593009-153593009
GRCh38: X:154364641-154364641
10 FLNA NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs) DEL Pathogenic
1452088 GRCh37: X:153589919-153589920
GRCh38: X:154361551-154361552
11 FLNA NM_001110556.2(FLNA):c.656del (p.Ser219fs) DEL Pathogenic
1451173 GRCh37: X:153596073-153596073
GRCh38: X:154367705-154367705
12 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic
533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
13 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic
853726 rs2067763458 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
14 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic
856285 rs1359141531 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
15 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic
864458 rs2067760741 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
16 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) DEL Pathogenic
940733 rs2067741257 GRCh37: X:153592978-153592984
GRCh38: X:154364610-154364616
17 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic
959369 rs781789823 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
18 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) DUP Pathogenic
959608 rs2067723474 GRCh37: X:153591149-153591150
GRCh38: X:154362781-154362782
19 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) DEL Pathogenic
964600 rs2067626336 GRCh37: X:153580732-153580732
GRCh38: X:154352364-154352364
20 FLNA NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs) DUP Pathogenic
1444364 GRCh37: X:153594790-153594791
GRCh38: X:154366422-154366423
21 FLNA NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs) DUP Pathogenic
1434332 GRCh37: X:153590420-153590421
GRCh38: X:154362052-154362053
22 overlap with 2 genes NC_000023.10:g.(?_153599231)_(153609567_?)del DEL Pathogenic
1455467 GRCh37: X:153599231-153609567
GRCh38:
23 FLNA NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter) SNV Pathogenic
1429750 GRCh37: X:153593258-153593258
GRCh38: X:154364890-154364890
24 FLNA NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) INSERT Pathogenic
1069630 GRCh37: X:153599279-153599280
GRCh38: X:154370911-154370912
25 FLNA NM_001110556.2(FLNA):c.812del (p.Pro271fs) DEL Pathogenic
1070215 GRCh37: X:153595821-153595821
GRCh38: X:154367453-154367453
26 FLNA NM_001110556.2(FLNA):c.2947dup (p.Val983fs) DUP Pathogenic
1070361 GRCh37: X:153589935-153589936
GRCh38: X:154361567-154361568
27 FLNA NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs) DUP Pathogenic
1071106 GRCh37: X:153580640-153580641
GRCh38: X:154352272-154352273
28 FLNA NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer) DEL Pathogenic
1071650 GRCh37: X:153595798-153595804
GRCh38: X:154367430-154367436
29 FLNA NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter) SNV Pathogenic
1072111 GRCh37: X:153596255-153596255
GRCh38: X:154367887-154367887
30 FLNA NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs) MICROSAT Pathogenic
1072754 GRCh37: X:153581189-153581190
GRCh38: X:154352821-154352822
31 FLNA NM_001110556.2(FLNA):c.5146del (p.Gln1716fs) DEL Pathogenic
1073243 GRCh37: X:153583264-153583264
GRCh38: X:154354896-154354896
32 FLNA NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs) DUP Pathogenic
1075693 GRCh37: X:153587855-153587856
GRCh38: X:154359487-154359488
33 FLNA NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser) SNV Pathogenic
1683443 GRCh37: X:153596047-153596047
GRCh38: X:154367679-154367679
34 FLNA NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) SNV Pathogenic
93752 rs398123614 GRCh37: X:153590412-153590412
GRCh38: X:154362044-154362044
35 LOC107988032, FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) MICROSAT Pathogenic
453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
36 LOC107988032, FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) DEL Pathogenic
652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
37 LOC107988032, FLNA NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) MICROSAT Pathogenic
938503 rs2067602034 GRCh37: X:153577873-153577874
GRCh38: X:154349505-154349506
38 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic
941466 rs2067693064 GRCh37: X:153588421-153588421
GRCh38: X:154360053-154360053
39 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) SNV Pathogenic
405446 rs1060500717 GRCh37: X:153580594-153580594
GRCh38: X:154352226-154352226
40 FLNA NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter) SNV Pathogenic
1075551 GRCh37: X:153589918-153589918
GRCh38: X:154361550-154361550
41 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic
967048 rs2067761804 GRCh37: X:153594817-153594817
GRCh38: X:154366449-154366449
42 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic
234717 rs782308324 GRCh37: X:153578477-153578477
GRCh38: X:154350109-154350109
43 FLNA NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) SNV Pathogenic
Pathogenic
11759 rs28935473 GRCh37: X:153588567-153588567
GRCh38: X:154360199-154360199
44 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic
209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
45 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic
11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
46 FLNA NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) SNV Pathogenic
Pathogenic
11756 rs28935470 GRCh37: X:153595873-153595873
GRCh38: X:154367505-154367505
47 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic
Pathogenic
11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
48 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic
Pathogenic
11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
49 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic
405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
50 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) DEL Pathogenic
405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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