OPD1
MCID: OTP006
MIFTS: 59

Otopalatodigital Syndrome, Type I (OPD1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Otopalatodigital Syndrome, Type I

MalaCards integrated aliases for Otopalatodigital Syndrome, Type I:

Name: Otopalatodigital Syndrome, Type I 57 12 38
Otopalatodigital Syndrome Type 1 11 19 42 58 14
Taybi Syndrome 11 19 42 58 75
Oto-Palato-Digital Syndrome Type 1 11 19 43 71
Opd Syndrome 1 57 11 19 58
Opd1 57 11 19 73
Oto-Palato-Digital Syndrome, Type I 42 28 5
Opd I Syndrome 57 11 58
Otopalatodigital Syndrome Type I 11
Faciopalatoosseous Syndrome 42
Otopalatodigital Syndrome 1 73
Cranioorodigital Syndrome 42
Opd Syndrome, Type 1 42
Opd Syndrome 19
Fpo 42

Characteristics:


Inheritance:

Otopalatodigital Syndrome, Type I: X-linked dominant 57
Otopalatodigital Syndrome Type 1: X-linked dominant 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
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


Classifications:

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


Summaries for Otopalatodigital Syndrome, Type I

MedlinePlus Genetics: 42 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.

MalaCards based summary: Otopalatodigital Syndrome, Type I, also known as otopalatodigital syndrome type 1, is related to rubinstein-taybi syndrome 1 and otopalatodigital syndrome, type ii. An important gene associated with Otopalatodigital Syndrome, Type I is FLNA (Filamin A), and among its related pathways/superpathways are Chromatin organization and Pre-NOTCH Expression and Processing. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and spinal cord, and related phenotypes are hearing impairment and skeletal dysplasia

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild intellectual disability, 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.

Disease Ontology: 11 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.

GARD: 19 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.

Orphanet: 58 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.

Wikipedia: 75 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 335)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 32.9 EP300 CREBBP
2 otopalatodigital syndrome, type ii 32.3 FLNB FLNA
3 frontometaphyseal dysplasia 32.0 RFLNB FLNB FLNA
4 terminal osseous dysplasia 32.0 FLNB FLNA
5 chromosome 16p13.3 deletion syndrome, proximal 31.6 MECP2 HDAC2 H3-7 H2AC18 EP300 CREBBP
6 melnick-needles syndrome 31.6 RFLNB FLNB FLNA
7 coffin-lowry syndrome 31.6 MECP2 H2AC18 CREB1
8 otopalatodigital syndrome spectrum disorder 30.9 NAA11 MBD1 H2AC18 FLNB FLNA EP300
9 interatrial communication 30.2 CREBBP CHD7
10 menke-hennekam syndrome 30.1 EP300 CREBBP
11 atrial heart septal defect 30.0 H2AC18 FLNA CREBBP CHD7
12 cornelia de lange syndrome 28.7 MECP2 IQSEC2 H3-7 H2AC18 EP300 CREBBP
13 rubinstein-taybi syndrome 2 11.7
14 oto-palatal-digital syndrome 11.5
15 pilomatrixoma 11.3
16 frontometaphyseal dysplasia 1 11.1
17 menke-hennekam syndrome 1 11.1
18 menke-hennekam syndrome 2 11.1
19 floating-harbor syndrome 11.0
20 dysostosis 11.0
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
22 microcephaly 10.6
23 autism spectrum disorder 10.4
24 autism 10.3
25 intraocular pressure quantitative trait locus 10.3
26 cleft lip 10.3
27 strabismus 10.3
28 scoliosis 10.3
29 cryptorchidism, unilateral or bilateral 10.3
30 cornelia de lange syndrome 2 10.2 EP300 CREBBP
31 patent ductus arteriosus 1 10.2
32 ptosis 10.2
33 pre-eclampsia 10.2
34 keloid disorder 10.2
35 bartholin's gland adenoid cystic carcinoma 10.2 EP300 CREBBP
36 medulloblastoma 10.2
37 gastroesophageal reflux 10.2
38 coloboma of macula 10.2
39 glaucoma 3, primary congenital, a 10.2
40 rare genetic intellectual disability 10.2 KDM3B EP300 CREBBP
41 leukemia, acute monocytic 10.2 H2AC18 EP300 CREBBP
42 boomerang dysplasia 10.1 FLNB FLNA
43 epicanthus 10.1
44 polydactyly 10.1
45 meningioma, familial 10.1
46 hypotonia 10.1
47 atelosteogenesis 10.1 FLNB FLNA
48 adult t-cell leukemia/lymphoma 10.1 H2AC18 EP300 CREB1
49 autosomal dominant intellectual developmental disorder 31 10.1 EP300 CREBBP CHD7
50 cleft palate, isolated 10.1

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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
2 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
3 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005280
4 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
5 prominent supraorbital ridges 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000336
6 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
7 intellectual disability, mild 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001256
8 cleft palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000175
9 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
10 sandal gap 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001852
11 short hallux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010109
12 limitation of joint mobility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001376
13 oligodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000677
14 anodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000674
15 bowing of the long bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0006487
16 thickened calvaria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002684
17 increased bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0011001
18 short thumb 58 30 Frequent (33%) Frequent (79-30%)
HP:0009778
19 short distal phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0009882
20 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0003042
21 proximal placement of thumb 58 30 Frequent (33%) Frequent (79-30%)
HP:0009623
22 short palm 58 30 Frequent (33%) Frequent (79-30%)
HP:0004279
23 hypoplastic frontal sinuses 58 30 Frequent (33%) Frequent (79-30%)
HP:0002738
24 abnormal metacarpal morphology 30 Frequent (33%) HP:0005916
25 synostosis of carpal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005048
26 abnormal vertebral segmentation and fusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005640
27 abnormality of the tarsal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001850
28 frontal bossing 30 HP:0002007
29 scoliosis 30 HP:0002650
30 short nose 30 HP:0003196
31 short stature 30 HP:0004322
32 prominent occiput 30 HP:0000269
33 flat face 30 HP:0012368
34 short 4th metacarpal 30 HP:0010044
35 short 5th metacarpal 30 HP:0010047
36 pectus excavatum 30 HP:0000767
37 narrow mouth 30 HP:0000160
38 conductive hearing impairment 30 HP:0000405
39 hip dislocation 30 HP:0002827
40 malar flattening 30 HP:0000272
41 coxa valga 30 HP:0002673
42 abnormality of the metacarpal bones 58 Frequent (79-30%)
43 toe syndactyly 30 HP:0001770
44 omphalocele 30 HP:0001539
45 capitate-hamate fusion 30 HP:0001241
46 nail dysplasia 30 HP:0002164
47 nail dystrophy 30 HP:0008404
48 dislocated radial head 30 HP:0003083
49 absent frontal sinuses 30 HP:0002688
50 selective tooth agenesis 30 HP:0001592

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
frontal bossing
flat face

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Mouth:
cleft palate
microstomia

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

Abdomen External Features:
omphalocele

Skeletal Skull:
absent frontal sinuses
thick skull base
delayed closure of anterior fontanel
absent sphenoid sinuses
thick frontal bone
more
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:
scoliosis
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
more
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 08-Dec-2022)

MGI Mouse Phenotypes related to Otopalatodigital Syndrome, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 CHD7 CREB1 CREBBP EP300 FLNA FLNB
2 cellular MP:0005384 9.9 CHD7 CREB1 CREBBP EP300 FLNA FLNB
3 respiratory system MP:0005388 9.61 CHD7 CREB1 CREBBP EP300 FLNA FLNB
4 skeleton MP:0005390 9.32 CHD7 CREB1 CREBBP FLNA FLNB HDAC2

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
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Neurotransmitter Agents Phase 2
3 Psychotropic Drugs Phase 2
4 Anticonvulsants 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 28 FLNA

Anatomical Context for Otopalatodigital Syndrome, Type I

Organs/tissues related to Otopalatodigital Syndrome, Type I:

MalaCards : Bone, Heart, Spinal Cord, Brain, Adrenal Gland, Pituitary, Thyroid
ODiseA: Heart

Publications for Otopalatodigital Syndrome, Type I

Articles related to Otopalatodigital Syndrome, Type I:

(show top 50) (show all 764)
# Title Authors PMID Year
1
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 62 57 5
15940695 2005
2
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 62 57 5
12612583 2003
3
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 62 57
16538226 2006
4
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 62 57
16596676 2006
5
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. 62 57
11398100 2001
6
Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28). 62 57
1733165 1992
7
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28. 62 57
1757098 1991
8
The roentgenographic features of the oto-palato-digital (OPD) syndrome. 62 57
6023901 1967
9
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 5
17264970 2007
10
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 57
16926860 2007
11
Filamin A: phenotypic diversity. 5
15917206 2005
12
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 57
15654694 2005
13
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 57
12503106 2003
14
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
15
[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form]. 57
3265608 1988
16
Oto-Palato-Digital syndrome in four generations of a large family. 57
3791682 1986
17
The oto-palato-digital syndrome, proposed type II. 57
6614053 1983
18
Otopalatodigital syndrome: radiologic findings in the hand and foot. 57
4469976 1974
19
Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females. 57
5012690 1972
20
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
21
Sex-linked cleft palate. Report of a family and review of 77 kindreds. 57
5911825 1966
22
Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease. 57
13919903 1962
23
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study. 62
36373849 2022
24
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. 62
36385105 2022
25
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome. 62
35275800 2022
26
Multimodal Imaging of Cone Dysfunction in Rubinstein-Taybi Syndrome. 62
36100534 2022
27
Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study. 62
35913016 2022
28
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life. 62
35803299 2022
29
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature. 62
35730128 2022
30
A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome. 62
35986282 2022
31
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype. 62
35266289 2022
32
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. 62
35388185 2022
33
Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus. 62
32557407 2022
34
Menke-Hennekam Syndrome: A Literature Review and a New Case Report. 62
35626936 2022
35
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation. 62
34849865 2022
36
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes. 62
34919300 2022
37
KMT2A: Umbrella Gene for Multiple Diseases. 62
35328068 2022
38
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. 62
33461977 2022
39
Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndrome. 62
34507883 2022
40
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. 62
34958122 2022
41
Oral and cephalometric study in Brazilian Rubinstein-Taybi syndrome patients. 62
34590347 2022
42
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient. 62
34018455 2022
43
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. 62
34218493 2022
44
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. 62
34652060 2022
45
A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features. 62
35833092 2022
46
Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons. 62
34100419 2022
47
Interstitial lung disease in children with Rubinstein-Taybi syndrome. 62
34585851 2022
48
Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant. 62
35637708 2022
49
Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant. 62
35464843 2022
50
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. 62
34906459 2022

Variations for Otopalatodigital Syndrome, Type I

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type I:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) SNV Pathogenic
11766 rs137853314 GRCh37: X:153596225-153596225
GRCh38: X:154367857-154367857
2 FLNA NM_001110556.2(FLNA):c.5162del (p.Val1721fs) DEL Pathogenic
1031981 rs2067650699 GRCh37: X:153583248-153583248
GRCh38: X:154354880-154354880
3 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) SNV Pathogenic
11755 rs28935469 GRCh37: X:153596212-153596212
GRCh38: X:154367844-154367844
4 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic
11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
5 LOC107988032, FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain Significance
392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
6 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain Significance
465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
7 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain Significance
435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
8 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain Significance
93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
9 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain Significance
432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048
10 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain Significance
198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
11 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain Significance
588552 rs782445995 GRCh37: X:153589909-153589909
GRCh38: X:154361541-154361541
12 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain Significance
625949 rs1448428046 GRCh37: X:153591069-153591069
GRCh38: X:154362701-154362701
13 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain Significance
625951 rs1569551874 GRCh37: X:153596338-153596338
GRCh38: X:154367970-154367970
14 FLNA NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln) SNV Uncertain Significance
1030454 rs781999359 GRCh37: X:153581147-153581147
GRCh38: X:154352779-154352779
15 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain Significance
211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
16 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain Significance
533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
17 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain Significance
213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
18 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain Significance
625948 rs1557177412 GRCh37: X:153587512-153587512
GRCh38: X:154359144-154359144
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.5488G>C (p.Val1830Leu) SNV Uncertain Significance
1708080 GRCh37: X:153582588-153582588
GRCh38: X:154354220-154354220
21 FLNA NM_001110556.2(FLNA):c.3364T>G (p.Cys1122Gly) SNV Uncertain Significance
1708104 GRCh37: X:153588799-153588799
GRCh38: X:154360431-154360431
22 FLNA NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala) SNV Uncertain Significance
988745 GRCh37: X:153582348-153582348
GRCh38: X:154353980-154353980
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:

73
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 KDM3B HDAC2 H2AC18 EP300 CREBBP
2
Show member pathways
12.5 HDAC2 H2AC18 EP300 CREBBP CREB1
3
Show member pathways
11.88 HDAC2 EP300 CREBBP
4 11.67 FLNB FLNA EP300 CREBBP
5
Show member pathways
11.56 EP300 CREBBP CREB1
6 11.56 MECP2 MBD1 EP300 CREBBP CREB1
7 11.51 MECP2 KDM3B HDAC2 EP300 CREBBP CHD7
8 11.5 HDAC2 EP300 CREB1
9 11.31 CREB1 CREBBP EP300
10 11.29 HDAC2 FLNB FLNA EP300 CREBBP
11 11.2 MBD1 EP300 CREBBP
12 11 HDAC2 EP300 CREBBP
13 10.91 CREBBP CREB1
14 10.85 EP300 CREBBP
15 10.81 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 8.92 RFLNB FLNA

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

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.73 RFLNB IQSEC2 FLNB FLNA
2 histone acetylation GO:0016573 9.63 MECP2 EP300 CREBBP
3 DNA-templated transcription elongation GO:0006354 9.5 KDM3B EP300 CREBBP
4 rhythmic process GO:0048511 9.35 HDAC2 EP300 CREBBP CREB1
5 N-terminal peptidyl-lysine acetylation GO:0018076 8.92 EP300 CREBBP

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.97 HDAC2 EP300 CREBBP CREB1
2 promoter-specific chromatin binding GO:1990841 9.88 MECP2 HDAC2 CHD7
3 peptide-lysine-N-acetyltransferase activity GO:0061733 9.62 EP300 CREBBP
4 double-stranded methylated DNA binding GO:0010385 9.56 MECP2 MBD1
5 acetyltransferase activity GO:0016407 9.55 NAA11 EP300 CREBBP
6 methyl-CpG binding GO:0008327 9.43 MECP2 MBD1 LHX4
7 peptide N-acetyltransferase activity GO:0034212 8.92 EP300 CREBBP

Sources for Otopalatodigital Syndrome, Type I

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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