Otopalatodigital Syndrome, Type I (OPD1)

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

Aliases & Classifications for Otopalatodigital Syndrome, Type I

MalaCards integrated aliases for Otopalatodigital Syndrome, Type I:

Name: Otopalatodigital Syndrome, Type I 57 13 39
Otopalatodigital Syndrome Type 1 12 20 43 58 15
Taybi Syndrome 12 73 20 43 58
Oto-Palato-Digital Syndrome Type 1 12 20 44 70
Opd Syndrome 1 57 12 20 58
Opd1 57 12 20 72
Oto-Palato-Digital Syndrome, Type I 43 29 6
Opd I Syndrome 57 12 58
Otopalatodigital Syndrome Type I 12
Faciopalatoosseous Syndrome 43
Otopalatodigital Syndrome 1 72
Cranioorodigital Syndrome 43
Opd Syndrome, Type 1 43
Opd Syndrome 20
Fpo 43


Orphanet epidemiological data:

otopalatodigital syndrome type 1
Inheritance: X-linked dominant;


57 (Updated 20-May-2021)
x-linked dominant

frontometaphyseal dysplasia (fmd, ) is an allelic disorder
melnick-needles syndrome (mns, ) is an allelic disorder
periventricular heterotopia is an allelic disorder
intermediate expression in females
complete manifestation in males
otopalatodigital syndrome type ii (opd2, ) is an allelic disorder with a more severe, frequently lethal phenotype


otopalatodigital syndrome, type i:
Inheritance x-linked dominant inheritance


Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases

Summaries for Otopalatodigital Syndrome, Type I

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90650 Definition A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Epidemiology To date, more than 100 cases have been described in the world literature. Clinical description OPD1 is a congenital disorder characterized by generalized skeletal dysplasia which include camptodactyly, long spatulate fingers, short first digits (''tree frog'' hands and feet), pectus carinatum, mild campomelia, mild femoral bowing, limitation of joint movement (elbow extension, wrist abduction) and malformed auditory ossicles leading to conductive hearing loss in some individuals. Additional features include typical craniofacial anomalies (occipital prominence, frontal bossing with prominent supraorbital ridges, flat nasal bridge, hypertelorism, microstomia, dental abnormalities, and cleft palate (pugilistic face)). In affected females, a similar but usually milder spectrum of expressivity is observed. Etiology OPD1 is caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. However the pathogenesis of OPD1 is still elusive. OPD1 is allelic with 4 other skeletal dysplasias (OPD2, Melnick-Needles syndrome (MNS), terminal osseous dysplasia - pigmentary defects (TOD) and frontometaphyseal dysplasia (FMD)). Genetic counseling OPD1 is inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.

MalaCards based summary : Otopalatodigital Syndrome, Type I, also known as otopalatodigital syndrome type 1, is related to rubinstein-taybi syndrome 1 and chromosome 16p13.3 deletion syndrome, proximal. An important gene associated with Otopalatodigital Syndrome, Type I is FLNA (Filamin A), and among its related pathways/superpathways are Chromatin organization and Prolactin Signaling Pathway. The drugs Valproic acid and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and heart, and related phenotypes are hearing impairment and skeletal dysplasia

Disease Ontology : 12 An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has material basis in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28.

MedlinePlus Genetics : 43 Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits).Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a broad, flat nose. Affected individuals have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; unusually long second toes; and a wide gap between the first and second toes (known as a sandal gap). Affected individuals also have hearing loss.Infants with otopalatodigital syndrome type 1 may be born with an opening in the roof of the mouth (a cleft palate). Individuals with this condition often have fewer teeth than normal (hypodontia). They may have mild abnormal curvature (bowing) of their limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family.Females with otopalatodigital syndrome type 1 often have more variable signs and symptoms compared to affected males, with females typically having fewer signs and symptoms.

OMIM® : 57 Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1; 305620), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' (311300) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Otopalatodigital syndrome 1: X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto- palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum.

Wikipedia : 73 Rubinstein-Taybi syndrome (RTS), is a rare genetic condition characterized by short stature, moderate to... more...

Related Diseases for Otopalatodigital Syndrome, Type I

Diseases in the Otopalatodigital Syndrome Spectrum Disorder family:

Otopalatodigital Syndrome, Type Ii Otopalatodigital Syndrome, Type I

Diseases related to Otopalatodigital Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 32.9 EP300 CREBBP
2 chromosome 16p13.3 deletion syndrome, proximal 32.2 MECP2 H2AC18 GLYATL1 EP300 CREBBP CREB1
3 frontometaphyseal dysplasia 32.2 RFLNB FLNB FLNA
4 otopalatodigital syndrome, type ii 32.2 RFLNB FLNB FLNA
5 coffin-lowry syndrome 31.5 MECP2 H2AC18 CREB1
6 cleft palate, isolated 29.9 H2AC18 FLNB FLNA ALX1
7 cornelia de lange syndrome 29.8 MECP2 H2AC18 EP300 CREBBP
8 scoliosis 29.8 MECP2 FLNB FLNA CREBBP
9 rubinstein-taybi syndrome 2 11.7
10 oto-palatal-digital syndrome 11.5
11 pilomatrixoma 11.2
12 terminal osseous dysplasia 11.2
13 frontometaphyseal dysplasia 1 11.1
14 melnick-needles syndrome 11.1
15 menke-hennekam syndrome 1 11.0
16 menke-hennekam syndrome 2 11.0
17 floating-harbor syndrome 11.0
18 dysostosis 11.0
19 alacrima, achalasia, and mental retardation syndrome 10.6
20 microcephaly 10.5
21 cleft lip 10.3
22 strabismus 10.3
23 mechanical strabismus 10.3
24 menke-hennekam syndrome 10.3 EP300 CREBBP
25 thumb deformity 10.3 EP300 CREBBP
26 intraocular pressure quantitative trait locus 10.3
27 cryptorchidism, unilateral or bilateral 10.2
28 patent ductus arteriosus 1 10.2
29 ptosis 10.2
30 pre-eclampsia 10.2
31 keloid disorder 10.2
32 medulloblastoma 10.2
33 boomerang dysplasia 10.2 FLNB FLNA
34 colorectal cancer 10.2
35 coloboma of macula 10.2
36 constipation 10.2
37 human t-cell leukemia virus type 2 10.2 EP300 CREBBP CREB1
38 human t-cell leukemia virus type 1 10.1 EP300 CREBBP CREB1
39 nut midline carcinoma 10.1 H2AC18 EP300 CREBBP
40 leukemia, acute monocytic 10.1 H2AC18 EP300 CREBBP
41 spondylocarpotarsal synostosis syndrome 10.1 RFLNB FLNB FLNA
42 kabuki syndrome 1 10.1 H2AC18 EP300 CREBBP
43 gastroesophageal reflux 10.1
44 epicanthus 10.1
45 sleep apnea 10.1
46 hypotonia 10.1
47 atelosteogenesis 10.1 FLNB FLNA
48 hypertelorism 10.1
49 osteochondrodysplasia 10.1
50 amelogenesis imperfecta, type ig 10.1 H2AC18 EP300 CREB1

Graphical network of the top 20 diseases related to Otopalatodigital Syndrome, Type I:

Diseases related to Otopalatodigital Syndrome, Type I

Symptoms & Phenotypes for Otopalatodigital Syndrome, Type I

Human phenotypes related to Otopalatodigital Syndrome, Type I:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
6 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
8 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
11 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
12 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
13 oligodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000677
14 anodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000674
15 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
16 thickened calvaria 58 31 frequent (33%) Frequent (79-30%) HP:0002684
17 increased bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0011001
18 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
19 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
20 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
21 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
22 proximal placement of thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009623
23 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
24 hypoplastic frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002738
25 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
26 abnormal vertebral segmentation and fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005640
27 abnormality of the tarsal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0001850
28 frontal bossing 31 HP:0002007
29 scoliosis 31 HP:0002650
30 short nose 31 HP:0003196
31 short stature 31 HP:0004322
32 prominent occiput 31 HP:0000269
33 flat face 31 HP:0012368
34 short 4th metacarpal 31 HP:0010044
35 short 5th metacarpal 31 HP:0010047
36 pectus excavatum 31 HP:0000767
37 narrow mouth 31 HP:0000160
38 conductive hearing impairment 31 HP:0000405
39 hip dislocation 31 HP:0002827
40 malar flattening 31 HP:0000272
41 coxa valga 31 HP:0002673
42 toe syndactyly 31 HP:0001770
43 omphalocele 31 HP:0001539
44 capitate-hamate fusion 31 HP:0001241
45 nail dysplasia 31 HP:0002164
46 nail dystrophy 31 HP:0008404
47 dislocated radial head 31 HP:0003083
48 absent frontal sinuses 31 HP:0002688
49 selective tooth agenesis 31 HP:0001592
50 accessory carpal bones 31 HP:0004232

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
flat face

Head And Neck Eyes:
downslanting palpebral fissures

Head And Neck Mouth:
cleft palate

Skeletal Pelvis:
hip dislocation
coxa valga
small iliac crests
flat acetabulum

Abdomen External Features:

Skeletal Skull:
absent frontal sinuses
thick skull base
delayed closure of anterior fontanel
absent sphenoid sinuses
thick frontal bone
Skeletal Limbs:
limited elbow extension
limited knee flexion
radial head dislocation
mild, lateral femoral bowing

Head And Neck Nose:
small nose
broad nasal root

Skeletal Hands:
supernumerary carpal bones
short, broad distal phalanges, especially thumbs
short square nails
short third, fourth, fifth metacarpals
fusion of hamate and capitate

Skeletal Spine:
small pedicles

Head And Neck Head:
prominent supraorbital ridges
prominent occiput

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Feet:
toe syndactyly
gap between first and second toes
short, broad halluces
'tree-frog' feet
anomalous fifth metatarsal
Skin Nails Hair Nails:
nail dystrophy
short square fingernails

Head And Neck Teeth:
selective tooth agenesis
impacted teeth

Head And Neck Ears:
conductive hearing loss

Neurologic Central Nervous System:
mild mental retardation

Growth Height:
short stature (<10th percentile for age)

Clinical features from OMIM®:

311300 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Otopalatodigital Syndrome, Type I:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 CREB1 CREBBP EP300 FLNA FLNB KDM3B
2 growth/size/body region MP:0005378 10 ALX1 CARM1 CREB1 CREBBP EP300 FLNA
3 nervous system MP:0003631 9.85 ALX1 CREB1 CREBBP EP300 FLNA FLNB
4 respiratory system MP:0005388 9.56 ALX1 CARM1 CREB1 CREBBP EP300 FLNA
5 skeleton MP:0005390 9.28 ALX1 CREB1 CREBBP FLNA FLNB MBD1

Drugs & Therapeutics for Otopalatodigital Syndrome, Type I

Drugs for Otopalatodigital Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Psychotropic Drugs Phase 2
3 Anticonvulsants Phase 2
4 Neurotransmitter Agents Phase 2
5 Histone Deacetylase Inhibitors Phase 2
6 Anesthetics

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. Recruiting NCT04122742

Search NIH Clinical Center for Otopalatodigital Syndrome, Type I

Cochrane evidence based reviews: oto-palato-digital syndrome type 1

Genetic Tests for Otopalatodigital Syndrome, Type I

Genetic tests related to Otopalatodigital Syndrome, Type I:

# Genetic test Affiliating Genes
1 Oto-Palato-Digital Syndrome, Type I 29 FLNA

Anatomical Context for Otopalatodigital Syndrome, Type I

MalaCards organs/tissues related to Otopalatodigital Syndrome, Type I:

Bone, Pituitary, Heart, Lung, Spinal Cord, Eye, Adrenal Gland

Publications for Otopalatodigital Syndrome, Type I

Articles related to Otopalatodigital Syndrome, Type I:

(show top 50) (show all 704)
# Title Authors PMID Year
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6 57
16596676 2006
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 57 6
15940695 2005
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 6 57
15654694 2005
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 6 57
12612583 2003
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 57
16926860 2007
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 57
16538226 2006
Filamin A: phenotypic diversity. 6
15917206 2005
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 57
12503106 2003
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. 57
11398100 2001
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 57
10706363 2000
Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28). 57
1733165 1992
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28. 57
1757098 1991
[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form]. 57
3265608 1988
Oto-Palato-Digital syndrome in four generations of a large family. 57
3791682 1986
The oto-palato-digital syndrome, proposed type II. 57
6614053 1983
Otopalatodigital syndrome: radiologic findings in the hand and foot. 57
4469976 1974
Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females. 57
5012690 1972
The roentgenographic features of the oto-palato-digital (OPD) syndrome. 57
6023901 1967
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. 57
6019437 1967
Sex-linked cleft palate. Report of a family and review of 77 kindreds. 57
5911825 1966
Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease. 57
13919903 1962
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome. 61
33442921 2021
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome. 61
33807238 2021
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature. 61
33776628 2021
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes. 61
32839936 2021
Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways. 61
33175283 2021
A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma. 61
33629314 2021
Update and Potential Opportunities in CBP [Cyclic Adenosine Monophosphate (cAMP) Response Element-Binding Protein (CREB)-Binding Protein] Research Using Computational Techniques. 61
33394237 2021
CREB-binding protein (CREBBP) and preeclampsia: a new promising target gene. 61
33625689 2021
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. 61
32641752 2021
Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label". 61
33063426 2021
Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family. 61
33747050 2021
Rubinstein-Taybi syndrome in Chinese population with four novel mutations. 61
33063428 2021
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. 61
33461977 2021
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. 61
33043588 2020
Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 mice. 61
33022214 2020
Rubinstein-Taybi syndrome in diverse populations. 61
32985117 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain. 61
32827181 2020
Barrett's Esophagus in Rubinstein-Taybi Syndrome. 61
33391942 2020
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome. 61
32778355 2020
Tethered Cord Syndrome in the United States Cluster Analysis of Presenting Anomalies and Associated. 61
32857021 2020
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation. 61
32562237 2020
Non-vascularized toe phalanx transfer for correction of severe clinodactyly of the thumb in Rubinstein-Taybi syndrome. 61
32164471 2020
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients. 61
32594341 2020
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications. 61
32843427 2020
Paraovarian Cyst Torsion in a Patient with Rubinstein-Taybi Syndrome: A Case Report. 61
32863342 2020
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. 61
32476269 2020
Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus. 61
32557407 2020

Variations for Otopalatodigital Syndrome, Type I

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type I:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.4904_4912del (p.Arg1635_Val1637del) Deletion Pathogenic 11762 rs863223298 GRCh37: X:153585835-153585843
GRCh38: X:154357467-154357475
2 FLNA NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) SNV Pathogenic 11766 rs137853314 GRCh37: X:153596225-153596225
GRCh38: X:154367857-154367857
3 FLNA NM_001110556.2(FLNA):c.5182G>T (p.Gly1728Cys) SNV Pathogenic 11768 rs137853316 GRCh37: X:153583228-153583228
GRCh38: X:154354860-154354860
4 FLNA NM_001110556.2(FLNA):c.5162del (p.Val1721fs) Deletion Pathogenic 1031981 GRCh37: X:153583248-153583248
GRCh38: X:154354880-154354880
5 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) SNV Pathogenic 11755 rs28935469 GRCh37: X:153596212-153596212
GRCh38: X:154367844-154367844
6 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
7 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
8 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain significance 392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
9 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain significance 465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
10 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
11 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
12 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain significance 533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
13 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain significance 432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048
14 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain significance 198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
15 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
16 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain significance 625948 rs1557177412 GRCh37: X:153587512-153587512
GRCh38: X:154359144-154359144
17 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain significance 588552 rs782445995 GRCh37: X:153589909-153589909
GRCh38: X:154361541-154361541
18 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain significance 625949 rs1448428046 GRCh37: X:153591069-153591069
GRCh38: X:154362701-154362701
19 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 625950 rs1569551838 GRCh37: X:153594700-153594700
GRCh38: X:154366332-154366332
20 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain significance 625951 rs1569551874 GRCh37: X:153596338-153596338
GRCh38: X:154367970-154367970
21 FLNA NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala) SNV Uncertain significance 988745 GRCh37: X:153582348-153582348
GRCh38: X:154353980-154353980
22 FLNA NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln) SNV Uncertain significance 1030454 GRCh37: X:153581147-153581147
GRCh38: X:154352779-154352779
23 FLNA NM_001110556.2(FLNA):c.2309A>G (p.Asn770Ser) SNV Likely benign 488377 rs1557178374 GRCh37: X:153591124-153591124
GRCh38: X:154362756-154362756
24 FLNA NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) SNV not provided 440936 rs1557178957 GRCh37: X:153593624-153593624
GRCh38: X:154365256-154365256

UniProtKB/Swiss-Prot genetic disease variations for Otopalatodigital Syndrome, Type I:

# Symbol AA change Variation ID SNP ID
1 FLNA p.Pro207Leu VAR_015700 rs28935469
2 FLNA p.Leu172Phe VAR_015714
3 FLNA p.Arg196Trp VAR_015716 rs137853317
4 FLNA p.Asp203Tyr VAR_031308 rs137853314

Expression for Otopalatodigital Syndrome, Type I

Search GEO for disease gene expression data for Otopalatodigital Syndrome, Type I.

Pathways for Otopalatodigital Syndrome, Type I

Pathways related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
6 11.86 EP300 CREBBP CARM1
Show member pathways
11.76 EP300 CREBBP CREB1
8 11.74 EP300 CREBBP CREB1
9 11.6 EP300 CREBBP CREB1
10 11.56 EP300 CREBBP CREB1
11 11.56 MECP2 MBD1 EP300 CREBBP CREB1
Show member pathways
13 11.45 EP300 CREBBP CREB1
14 11.34 EP300 CREBBP CREB1
Show member pathways
11.29 EP300 CREBBP CREB1
17 11.24 EP300 CREBBP CARM1
19 10.96 CREBBP CREB1
20 10.93 EP300 CREBBP
21 10.93 EP300 CREBBP

GO Terms for Otopalatodigital Syndrome, Type I

Cellular components related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament bundle GO:0032432 8.62 RFLNB FLNA

Biological processes related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rhythmic process GO:0048511 9.63 EP300 CREBBP CREB1
2 response to hypoxia GO:0001666 9.46 MECP2 EP300 CREBBP CREB1
3 glutamine metabolic process GO:0006541 9.43 MECP2 GLYATL1
4 histone acetylation GO:0016573 9.43 MECP2 EP300 CREBBP
5 positive regulation of transcription, DNA-templated GO:0045893 9.43 MECP2 EP300 CREBBP CREB1 CARM1 ALX1
6 histone methylation GO:0016571 9.4 MECP2 CARM1
7 positive regulation of transcription of Notch receptor target GO:0007221 9.37 EP300 CREBBP
8 protein acetylation GO:0006473 9.32 EP300 CREBBP
9 N-terminal peptidyl-lysine acetylation GO:0018076 8.62 EP300 CREBBP

Molecular functions related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coregulator activity GO:0003712 9.58 KDM3B EP300 CREBBP
2 chromatin DNA binding GO:0031490 9.5 KDM3B EP300 CREBBP
3 methyl-CpG binding GO:0008327 9.43 MECP2 MBD1
4 acetyltransferase activity GO:0016407 9.37 EP300 CREBBP
5 peptide-lysine-N-acetyltransferase activity GO:0061733 9.26 EP300 CREBBP
6 double-stranded methylated DNA binding GO:0010385 9.16 MECP2 MBD1
7 RNA polymerase II activating transcription factor binding GO:0001102 9.13 EP300 CREBBP CREB1
8 transcription factor binding GO:0008134 9.02 MECP2 FLNA EP300 CREBBP CREB1

Sources for Otopalatodigital Syndrome, Type I

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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