OPD1
MCID: OTP006
MIFTS: 60

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 56 13 39
Otopalatodigital Syndrome Type 1 12 52 25 58 15
Taybi Syndrome 12 74 52 25 58
Oto-Palato-Digital Syndrome Type 1 12 52 43 71
Opd Syndrome 1 56 12 52 58
Opd1 56 12 52 73
Oto-Palato-Digital Syndrome, Type I 25 29 6
Opd I Syndrome 56 12 58
Otopalatodigital Syndrome Type I 12
Faciopalatoosseous Syndrome 25
Otopalatodigital Syndrome 1 73
Cranioorodigital Syndrome 25
Opd Syndrome, Type 1 25
Opd Syndrome 52
Fpo 25

Characteristics:

Orphanet epidemiological data:

58
otopalatodigital syndrome type 1
Inheritance: X-linked dominant;

OMIM:

56
Inheritance:
x-linked dominant

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


HPO:

31
otopalatodigital syndrome, type i:
Inheritance x-linked dominant inheritance


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

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Otopalatodigital Syndrome, Type I, also known as otopalatodigital syndrome type 1, is related to rubinstein-taybi syndrome 1 and frontometaphyseal dysplasia. 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, heart and eye, 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.

Genetics Home Reference : 25 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, and Melnick-Needles syndrome. 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 and/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 small, flat nose. Affected individuals also have hearing loss and chest deformities. They have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; and unusually long second toes. Affected individuals may be born with an opening in the roof of the mouth (a cleft palate). They may have mildly bowed 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. Males with this disorder often have more severe signs and symptoms than do females, who may show only the characteristic facial features.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Rubinstein-Taybi syndrome (RTS), is a condition characterized by short stature, moderate to severe... 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 264)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 34.6 EP300 CREBBP
2 frontometaphyseal dysplasia 33.0 RFLNB FLNB FLNA
3 chromosome 16p13.3 deletion syndrome, proximal 32.3 MECP2 H3-2 H2AC18 GLYATL1 EP300 CREBBP
4 otopalatodigital syndrome, type ii 32.3 TRIP12 FLNB FLNA
5 coffin-lowry syndrome 31.9 MECP2 H2AC18 CREB1
6 boomerang dysplasia 30.4 FLNB FLNA
7 atelosteogenesis 30.2 FLNB FLNA
8 chronic dacryocystitis 29.9 TRIP12 FLNA
9 cleft palate, isolated 29.9 H2AC18 FLNB FLNA ALX1
10 scoliosis 29.5 MECP2 FLNB FLNA CREBBP
11 cornelia de lange syndrome 29.3 MECP2 H3-2 H2AC18 EP300 CREBBP
12 rubinstein-taybi syndrome 2 12.8
13 pilomatrixoma 11.8
14 oto-palatal-digital syndrome 11.7
15 floating-harbor syndrome 11.5
16 frontometaphyseal dysplasia 1 11.4
17 melnick-needles syndrome 11.4
18 acrocraniofacial dysostosis 11.3
19 alacrima, achalasia, and mental retardation syndrome 10.6
20 microcephaly 10.5
21 thumb deformity 10.4 EP300 CREBBP
22 intraocular pressure quantitative trait locus 10.3
23 strabismus 10.3
24 mechanical strabismus 10.3
25 cryptorchidism, unilateral or bilateral 10.2
26 patent ductus arteriosus 1 10.2
27 ptosis 10.2
28 medulloblastoma 10.2
29 pre-eclampsia 10.2
30 keloid disorder 10.2
31 nut midline carcinoma 10.2 H2AC18 EP300 CREBBP
32 leukemia, acute monocytic 10.2 H2AC18 EP300 CREBBP
33 human t-cell leukemia virus type 2 10.2 EP300 CREBBP CREB1
34 human t-cell leukemia virus type 1 10.2 EP300 CREBBP CREB1
35 coloboma of macula 10.2
36 myopathy, myofibrillar, 5 10.1 FLNB FLNA
37 epicanthus 10.1
38 autism 10.1
39 sleep apnea 10.1
40 constipation 10.1
41 hypotonia 10.1
42 yunis-varon syndrome 10.1
43 frontometaphyseal dysplasia 2 10.1
44 brachydactyly 10.1
45 x-linked otopalatodigital spectrum disorders 10.1
46 hypertelorism 10.1
47 fetal alcohol spectrum disorder 10.1 MECP2 H2AC18 CREB1
48 congenital nervous system abnormality 10.1 MECP2 H2AC18 FLNA
49 gastroesophageal reflux 10.0
50 keloid formation 10.0

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 scoliosis 31 HP:0002650
29 short nose 31 HP:0003196
30 short stature 31 HP:0004322
31 frontal bossing 31 HP:0002007
32 prominent occiput 31 HP:0000269
33 flat face 31 HP:0012368
34 narrow mouth 31 HP:0000160
35 short 4th metacarpal 31 HP:0010044
36 short 5th metacarpal 31 HP:0010047
37 pectus excavatum 31 HP:0000767
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:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Skeletal Spine:
scoliosis
small pedicles

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

Head And Neck Head:
prominent supraorbital ridges
prominent occiput

Head And Neck Face:
frontal bossing
flat face

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

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.53 KDM3B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.53 TRIP12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.53 EP300
4 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.53 TRIP12
5 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.53 EP300 KDM3B TRIP12
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.53 EP300
7 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.53 TRIP12
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.53 TRIP12
9 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.53 EP300
10 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.53 EP300
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.53 EP300
12 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.53 KDM3B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.53 EP300
14 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.53 KDM3B

MGI Mouse Phenotypes related to Otopalatodigital Syndrome, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 ALX1 CARM1 CREB1 CREBBP EP300 FLNA
2 craniofacial MP:0005382 9.8 ALX1 CREBBP EP300 FLNA FLNB MECP2
3 normal MP:0002873 9.76 ALX1 CREB1 CREBBP EP300 FLNA MECP2
4 respiratory system MP:0005388 9.56 ALX1 CARM1 CREB1 CREBBP EP300 FLNA
5 skeleton MP:0005390 9.23 ALX1 CREB1 CREBBP FLNA FLNB MECP2

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 Psychotropic Drugs Phase 2
3 Histone Deacetylase Inhibitors Phase 2
4 Anticonvulsants Phase 2
5 Neurotransmitter Agents 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 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:

40
Bone, Heart, Eye, Kidney, Brain, Spinal Cord, Thyroid

Publications for Otopalatodigital Syndrome, Type I

Articles related to Otopalatodigital Syndrome, Type I:

(show top 50) (show all 681)
# Title Authors PMID Year
1
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6 56
16596676 2006
2
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 56 6
15940695 2005
3
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 56 6
15654694 2005
4
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 6 56
12612583 2003
5
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 56
16926860 2007
6
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
7
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 56
16538226 2006
8
X-Linked Otopalatodigital Spectrum Disorders 6
20301567 2005
9
Filamin A: phenotypic diversity. 6
15917206 2005
10
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 56
12503106 2003
11
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. 56
11398100 2001
12
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 56
10706363 2000
13
Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28). 56
1733165 1992
14
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28. 56
1757098 1991
15
[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form]. 56
3265608 1988
16
Oto-Palato-Digital syndrome in four generations of a large family. 56
3791682 1986
17
The oto-palato-digital syndrome, proposed type II. 56
6614053 1983
18
Otopalatodigital syndrome: radiologic findings in the hand and foot. 56
4469976 1974
19
Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females. 56
5012690 1972
20
The roentgenographic features of the oto-palato-digital (OPD) syndrome. 56
6023901 1967
21
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. 56
6019437 1967
22
Sex-linked cleft palate. Report of a family and review of 77 kindreds. 56
5911825 1966
23
Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease. 56
13919903 1962
24
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. 61
32476269 2020
25
Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus. 61
32557407 2020
26
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation. 61
32562237 2020
27
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells. 61
31504229 2020
28
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
29
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome. 61
32321550 2020
30
Rubinstein-Taybi Syndrome: A Rare Case Report. 61
32477995 2020
31
Non-vascularized toe phalanx transfer for correction of severe clinodactyly of the thumb in Rubinstein-Taybi syndrome. 61
32164471 2020
32
CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome. 61
32386048 2020
33
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies. 61
31924266 2020
34
Syndromes associated with multiple pilomatricomas: When should clinicians be concerned? 61
31618803 2020
35
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. 61
32181026 2020
36
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly. 61
31637876 2019
37
Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings. 61
31942422 2019
38
The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration. 61
31806049 2019
39
Two cases of neuroangiostrongyliasis: A rare disease because rarely considered or rarely diagnosed? 61
30945367 2019
40
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients. 61
31566936 2019
41
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations. 61
31491690 2019
42
Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation. 61
30086887 2019
43
Anaesthetic implications of Rubinstein-Taybi syndrome. 61
30684926 2019
44
[Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome]. 61
31515782 2019
45
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome. 61
31137009 2019
46
Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. 61
30183454 2019
47
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. 61
30789376 2019
48
Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication. 61
30921089 2019
49
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene. 61
30614040 2019
50
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. 61
30892814 2019

Variations for Otopalatodigital Syndrome, Type I

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type I:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)SNV Pathogenic 11755 rs28935469 X:153596212-153596212 X:154367844-154367844
2 FLNA NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr)SNV Pathogenic 11766 rs137853314 X:153596225-153596225 X:154367857-154367857
3 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)SNV Conflicting interpretations of pathogenicity 11772 rs137853317 X:153596246-153596246 X:154367878-154367878
4 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)SNV Conflicting interpretations of pathogenicity 533577 rs782400832 X:153581143-153581143 X:154352775-154352775
5 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)SNV Conflicting interpretations of pathogenicity 588552 rs782445995 X:153589909-153589909 X:154361541-154361541
6 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)SNV Conflicting interpretations of pathogenicity 625949 rs1448428046 X:153591069-153591069 X:154362701-154362701
7 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)SNV Uncertain significance 625950 rs1569551838 X:153594700-153594700 X:154366332-154366332
8 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)SNV Uncertain significance 625951 rs1569551874 X:153596338-153596338 X:154367970-154367970
9 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)SNV Uncertain significance 625948 rs1557177412 X:153587512-153587512 X:154359144-154359144
10 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)SNV Uncertain significance 432226 rs1297013254 X:153592416-153592416 X:154364048-154364048
11 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)SNV Uncertain significance 435203 rs781984274 X:153580593-153580593 X:154352225-154352225
12 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)SNV Uncertain significance 465015 rs782275601 X:153580296-153580296 X:154351928-154351928
13 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)SNV Uncertain significance 93756 rs371677498 X:153588840-153588840 X:154360472-154360472
14 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)SNV Uncertain significance 198133 rs192609440 X:153595186-153595186 X:154366818-154366818
15 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)SNV Uncertain significance 211024 rs797045581 X:153580599-153580599 X:154352231-154352231
16 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)SNV Uncertain significance 213491 rs782447567 X:153596263-153596263 X:154367895-154367895
17 FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)SNV Uncertain significance 392335 rs201762017 X:153577858-153577858 X:154349490-154349490
18 FLNA NM_001110556.2(FLNA):c.2309A>G (p.Asn770Ser)SNV Likely benign 488377 rs1557178374 X:153591124-153591124 X:154362756-154362756
19 FLNA NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)SNV not provided 440936 rs1557178957 X:153593624-153593624 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 KDM3B H2AC18 EP300 CREBBP CARM1
2
Show member pathways
12.28 FLNA EP300 CREBBP CREB1
3
Show member pathways
11.89 CREBBP CREB1 CARM1
4
Show member pathways
11.88 EP300 CREBBP CREB1 CARM1
5 11.86 EP300 CREBBP CARM1
6
Show member pathways
11.76 EP300 CREBBP CREB1
7 11.76 MECP2 KDM3B EP300 CREBBP CARM1
8 11.74 EP300 CREBBP CREB1
9 11.67 MECP2 EP300 CREBBP CREB1
10 11.6 EP300 CREBBP CREB1
11 11.56 EP300 CREBBP CREB1
12
Show member pathways
11.5 EP300 CREBBP CARM1
13 11.45 EP300 CREBBP CREB1
14 11.34 EP300 CREBBP CREB1
15
Show member pathways
11.29 EP300 CREBBP CREB1
16 11.29 FLNB FLNA EP300 CREBBP
17 11.24 EP300 CREBBP CARM1
18 10.98 FLNA EP300 CREBBP CREB1 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 nucleus GO:0005634 9.4 TRIP12 MECP2 KDM3B H3-2 H2AC18 FLNB
2 chromatin GO:0000785 9.13 MECP2 KDM3B CREB1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.8 MECP2 KDM3B EP300 CREBBP CREB1 CARM1
2 positive regulation of transcription, DNA-templated GO:0045893 9.72 MECP2 EP300 CREBBP CREB1 ALX1
3 rhythmic process GO:0048511 9.65 EP300 CREBBP CREB1
4 histone methylation GO:0016571 9.46 MECP2 CARM1
5 glutamine metabolic process GO:0006541 9.43 MECP2 GLYATL1
6 positive regulation of transcription of Notch receptor target GO:0007221 9.4 EP300 CREBBP
7 protein acetylation GO:0006473 9.37 EP300 CREBBP
8 histone acetylation GO:0016573 9.33 MECP2 EP300 CREBBP
9 response to hypoxia GO:0001666 9.26 MECP2 EP300 CREBBP CREB1
10 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 9.43 EP300 CREBBP CREB1
2 acetyltransferase activity GO:0016407 9.32 EP300 CREBBP
3 peptide-lysine-N-acetyltransferase activity GO:0061733 9.16 EP300 CREBBP
4 RNA polymerase II activating transcription factor binding GO:0001102 9.13 EP300 CREBBP CREB1
5 transcription factor binding GO:0008134 9.02 MECP2 FLNA EP300 CREBBP CREB1

Sources for Otopalatodigital Syndrome, Type I

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