OPD2
MCID: OTP007
MIFTS: 61

Otopalatodigital Syndrome, Type Ii (OPD2)

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 Ii

MalaCards integrated aliases for Otopalatodigital Syndrome, Type Ii:

Name: Otopalatodigital Syndrome, Type Ii 57 12 38
Otopalatodigital Syndrome Type 2 11 19 42 58 14
Faciopalatoosseous Syndrome 57 11 19 42
Oto-Palato-Digital Syndrome, Type Ii 42 28 5
Cranioorodigital Syndrome 57 42 73
Opd Ii Syndrome 57 11 58
Opd Syndrome 2 57 11 58
Opd2 57 11 73
Fpo 57 19 42
Oto-Palato-Digital Syndrome Type 2 11 19
Andre Syndrome 11 19
Oto-Palato-Digital Syndrome, Type 2 43
Oto-Palato-Digital Syndrome Type 1 71
Otopalatodigital Syndrome Type Ii 11
Cranio-Oro-Digital Syndrome 19
Otopalatodigital Syndrome 2 73
Opd Syndrome, Type 2 42
Taybi Syndrome 42
Opd 2 Syndrome 19

Characteristics:


Inheritance:

Otopalatodigital Syndrome, Type Ii: X-linked dominant 57
Otopalatodigital Syndrome Type 2: X-linked dominant 58

Prevelance:

Otopalatodigital Syndrome Type 2: <1/1000000 (Worldwide) 58

Age Of Onset:

Otopalatodigital Syndrome Type 2: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
otopalatodigital syndrome type i (opd1, ) is an allelic disorder
frontometaphyseal dysplasia (fmd, ) is an allelic disorder
melnick-needles syndrome (mns, ) is an allelic disorder
majority of patients are stillborn or die before 5 months of age
milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)
periventricular heterotopia is an allelic disorder


Classifications:

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


Summaries for Otopalatodigital Syndrome, Type Ii

MedlinePlus Genetics: 42 Otopalatodigital syndrome type 2 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 1, 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 2 also tends to cause problems in other areas of the body, such as the brain and heart.People with otopalatodigital syndrome type 2 have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin (micrognathia). Affected individuals often have abnormalities of the fingers and toes, such as unusual curvature of the fingers (camptodactyly) and shortened or absent thumbs and big toes. People with otopalatodigital syndrome type 2 usually have short stature, abnormally curved (bowed) bones in the arms and legs, and other abnormal or absent bones. Underdeveloped ribs can cause problems with breathing in affected individuals. Some people with this condition have an opening in the roof of the mouth (a cleft palate) or hearing loss.In addition to skeletal abnormalities, individuals with otopalatodigital syndrome type 2 may have developmental delay, increased fluid in the center of the brain (hydrocephalus), protrusion of the abdominal organs through the navel (omphalocele), heart defects, chest abnormalities, obstruction of the ducts between the kidneys and bladder (ureters), and, in males, opening of the urethra on the underside of the penis (hypospadias).Males with otopalatodigital syndrome type 2 generally have much more severe signs and symptoms compared to affected females. Males with this condition typically do not survive past infancy because of respiratory failure due to an underdeveloped rib cage.

MalaCards based summary: Otopalatodigital Syndrome, Type Ii, also known as otopalatodigital syndrome type 2, is related to frontometaphyseal dysplasia and terminal osseous dysplasia. An important gene associated with Otopalatodigital Syndrome, Type Ii is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and MAPK signaling pathway. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and brain, and related phenotypes are hearing impairment and skeletal dysplasia

OMIM®: 57 Otopalatodigital syndrome-2 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1; 305620), otopalatodigital syndrome-1 (OPD1; 311300), 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.' (304120) (Updated 08-Dec-2022)

Disease Ontology: 11 An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has material basis in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28.

GARD: 19 A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

Orphanet: 58 A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

UniProtKB/Swiss-Prot: 73 Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects.

Related Diseases for Otopalatodigital Syndrome, Type Ii

Diseases in the Otopalatodigital Syndrome Spectrum Disorder family:

Otopalatodigital Syndrome, Type Ii Otopalatodigital Syndrome, Type I

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

(show top 50) (show all 329)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 31.7 LOC107988032 FLNC FLNB FLNA
2 terminal osseous dysplasia 31.7 FLNC FLNB FLNA
3 otopalatodigital syndrome spectrum disorder 31.3 FLNC FLNB FLNA
4 periventricular nodular heterotopia 1 30.7 LOC107988032 FLNA
5 otopalatodigital syndrome, type i 30.7 FLNB FLNA
6 boomerang dysplasia 30.3 FLNC FLNB FLNA
7 atelosteogenesis 30.3 FLNC FLNB FLNA
8 omphalocele 30.1 PITX2 FLNA
9 melnick-needles syndrome 30.0 LOC107988032 FLNC FLNB FLNA
10 oto-palatal-digital syndrome 30.0 LOC107988032 FLNA
11 periventricular nodular heterotopia 30.0 FLNC FLNB FLNA
12 patent ductus arteriosus 1 29.9 PITX2 LOC107988032 FOXC1 FLNA
13 glaucoma 3, primary congenital, a 29.9 PITX2 FOXC1
14 atrial heart septal defect 29.7 PITX2 FOXC1 FLNA
15 axenfeld-rieger syndrome, type 3 29.6 PITX2 FOXC1
16 juvenile glaucoma 29.6 PITX2 FOXC1
17 anterior segment dysgenesis 1 29.6 PITX2 FOXC1
18 megalocornea 29.6 PITX2 FOXC1
19 peters-plus syndrome 29.4 PITX2 FOXC1 FLNA
20 chromosome 16p13.3 deletion syndrome, proximal 11.9
21 rubinstein-taybi syndrome 1 11.7
22 rubinstein-taybi syndrome 2 11.7
23 pilomatrixoma 11.3
24 frontometaphyseal dysplasia 1 11.2
25 menke-hennekam syndrome 1 11.1
26 menke-hennekam syndrome 2 11.1
27 floating-harbor syndrome 11.0
28 coffin-lowry syndrome 11.0
29 dysostosis 11.0
30 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
31 microcephaly 10.6
32 autism spectrum disorder 10.4
33 autism 10.3
34 intraocular pressure quantitative trait locus 10.3
35 atelosteogenesis, type iii 10.3
36 atelosteogenesis, type ii 10.3
37 hypospadias 10.3
38 cataract 10.3
39 flnb disorders 10.3
40 strabismus 10.3
41 scoliosis 10.3
42 cryptorchidism, unilateral or bilateral 10.3
43 atelosteogenesis, type i 10.2
44 hypertelorism 10.2
45 ptosis 10.2
46 pre-eclampsia 10.2
47 keloid disorder 10.2
48 medulloblastoma 10.2
49 gastroesophageal reflux 10.2
50 coloboma of macula 10.2

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



Diseases related to Otopalatodigital Syndrome, Type Ii

Symptoms & Phenotypes for Otopalatodigital Syndrome, Type Ii

Human phenotypes related to Otopalatodigital Syndrome, Type Ii:

58 30 (show top 50) (show all 99)
# 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 bowing of the long bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006487
7 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003196
8 cleft palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000175
9 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
10 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
11 narrow mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000160
12 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
13 broad forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000337
14 short thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009778
15 short hallux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010109
16 large fontanelles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000239
17 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000774
18 pulmonary hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002089
19 oligodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000677
20 anodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000674
21 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
22 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
23 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000238
24 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
25 thickened calvaria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002684
26 abnormal heart valve morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001654
27 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
28 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
29 hydronephrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000126
30 hypospadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000047
31 increased bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0011001
32 glossoptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000162
33 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0003042
34 camptodactyly of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0100490
35 cerebellar hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001321
36 omphalocele 58 30 Frequent (33%) Frequent (79-30%)
HP:0001539
37 short palm 58 30 Frequent (33%) Frequent (79-30%)
HP:0004279
38 abnormal vertebral segmentation and fusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0005640
39 hypoplastic frontal sinuses 58 30 Frequent (33%) Frequent (79-30%)
HP:0002738
40 fibular aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002990
41 pierre-robin sequence 58 30 Frequent (33%) Frequent (79-30%)
HP:0000201
42 ureteral obstruction 58 30 Frequent (33%) Frequent (79-30%)
HP:0006000
43 abnormal metacarpal morphology 30 Frequent (33%) HP:0005916
44 abnormal rib morphology 30 Frequent (33%) HP:0000772
45 flared iliac wing 30 Frequent (33%) HP:0002869
46 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
47 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
48 synostosis of carpal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005048
49 encephalocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002084
50 myelomeningocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002475

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hydrocephalus
mental retardation

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
small mouth

Growth Other:
postnatal growth retardation

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
thin, wavy clavicles
wavy, short ribs

Genitourinary Kidneys:
hydronephrosis

Chest External Features:
narrow chest

Abdomen Gastrointestinal:
omphalocele

Skeletal Limbs:
femoral bowing
tibial bowing
radial bowing
ulnar bowing
dense long bones
more
Skeletal Feet:
syndactyly
nonossified fifth metatarsal
hypoplastic metatarsals
rocker-bottom feet
short, broad halluces
more
Head And Neck Nose:
flat nasal bridge

Skeletal:
dysharmonic bone maturation

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Face:
prominent forehead
midface hypoplasia
severe micrognathia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears
conductive hearing loss

Skeletal Pelvis:
congenital hip dislocation
hypoplastic ilia

Genitourinary External Genitalia Male:
hypospadias

Skeletal Skull:
wormian bones
vertical clivus
midface hypoplasia
small mandible
sclerotic skull base
more
Respiratory:
respiratory failure

Skeletal Hands:
syndactyly
postaxial polydactyly
short, broad thumbs
flexed, overlapping fingers
second finger clinodactyly
more
Skeletal Spine:
spondylolysis
flattened vertebrae

Head And Neck Head:
large anterior fontanel

Clinical features from OMIM®:

304120 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Otopalatodigital Syndrome, Type Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.1 FLNA FLNB FLNC FOXC1 PITX2 UTRN

Drugs & Therapeutics for Otopalatodigital Syndrome, Type Ii

Drugs for Otopalatodigital Syndrome, Type Ii (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 Ii

Cochrane evidence based reviews: oto-palato-digital syndrome, type 2

Genetic Tests for Otopalatodigital Syndrome, Type Ii

Genetic tests related to Otopalatodigital Syndrome, Type Ii:

# Genetic test Affiliating Genes
1 Oto-Palato-Digital Syndrome, Type Ii 28 FLNA

Anatomical Context for Otopalatodigital Syndrome, Type Ii

Organs/tissues related to Otopalatodigital Syndrome, Type Ii:

MalaCards : Bone, Heart, Brain, Kidney, Spinal Cord, Adrenal Gland, Tongue
ODiseA: Kidney

Publications for Otopalatodigital Syndrome, Type Ii

Articles related to Otopalatodigital Syndrome, Type Ii:

(show top 50) (show all 771)
# Title Authors PMID Year
1
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 62 57 5
17431908 2007
2
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 62 57 5
17264970 2007
3
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 62 57 5
12612583 2003
4
Filamin A: phenotypic diversity. 57 5
15917206 2005
5
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 62 5
16596676 2006
6
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. 62 57
11398100 2001
7
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology. 62 57
11102922 2000
8
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 62 57
10706363 2000
9
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. 62 57
9409862 1997
10
Oto-palato-digital syndrome type II in two unrelated boys. 62 57
8026107 1994
11
Oto-palato-digital syndrome type II. 62 57
8031537 1994
12
Otopalatodigital syndrome type II. 62 57
8487277 1993
13
Otopalatodigital syndrome type II associated with omphalocele: report of three cases. 62 57
8465856 1993
14
Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification. 62 57
2114799 1990
15
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. 62 57
3976718 1985
16
The oto-palato-digital syndrome, proposed type II. 62 57
6614053 1983
17
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. 5
26059841 2016
18
47 patients with FLNA associated periventricular nodular heterotopia. 5
26471271 2015
19
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 5
20730588 2011
20
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 5
19773341 2009
21
Tracheomalacia in siblings with otopalatodigital syndrome. 57
18412116 2008
22
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 57
16926860 2007
23
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 5
16835913 2006
24
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 5
16684786 2006
25
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
26
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 57
15654694 2005
27
Molecular pathology of filamin A: diverse phenotypes, many functions. 5
15194946 2004
28
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 57
12503106 2003
29
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 57
1785627 1991
30
Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome. 57
7229752 1981
31
Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers. 57
896356 1977
32
A familial syndrome of cranial, facial, oral and limb anomalies. 57
975599 1976
33
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study. 62
36373849 2022
34
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. 62
36385105 2022
35
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome. 62
35275800 2022
36
Multimodal Imaging of Cone Dysfunction in Rubinstein-Taybi Syndrome. 62
36100534 2022
37
Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study. 62
35913016 2022
38
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life. 62
35803299 2022
39
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature. 62
35730128 2022
40
A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome. 62
35986282 2022
41
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype. 62
35266289 2022
42
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. 62
35388185 2022
43
Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus. 62
32557407 2022
44
Menke-Hennekam Syndrome: A Literature Review and a New Case Report. 62
35626936 2022
45
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation. 62
34849865 2022
46
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes. 62
34919300 2022
47
KMT2A: Umbrella Gene for Multiple Diseases. 62
35328068 2022
48
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. 62
33461977 2022
49
Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndrome. 62
34507883 2022
50
Oral and cephalometric study in Brazilian Rubinstein-Taybi syndrome patients. 62
34590347 2022

Variations for Otopalatodigital Syndrome, Type Ii

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type Ii:

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

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

73
# Symbol AA change Variation ID SNP ID
1 FLNA p.Glu254Lys VAR_015701 rs28935470
2 FLNA p.Gln170Pro VAR_015713 rs863223628
3 FLNA p.Arg196Gly VAR_015715
4 FLNA p.Ala200Ser VAR_015717
5 FLNA p.Ala273Pro VAR_015718
6 FLNA p.Thr555Lys VAR_015719 rs782611953
7 FLNA p.Cys1645Phe VAR_015723
8 FLNA p.Cys210Phe VAR_058720 rs137853318

Copy number variations for Otopalatodigital Syndrome, Type Ii from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260201 X 146900000 154913754 Copy number FLNA Oto-palato-digital type II

Expression for Otopalatodigital Syndrome, Type Ii

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

Pathways for Otopalatodigital Syndrome, Type Ii

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

# Super pathways Score Top Affiliating Genes
1 12.07 FLNC FLNB FLNA
2 11.89 FLNC FLNB FLNA
3 11.73 FLNC FLNB FLNA
4 11.06 FLNC FLNB FLNA
5 11.04 PITX2 FOXC1
6 10.91 FLNC FLNB FLNA
7 10.26 PITX2 FOXC1

GO Terms for Otopalatodigital Syndrome, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.86 UTRN SGCZ FLNC FLNB FLNA
2 Z disc GO:0030018 9.63 FLNC FLNB FLNA
3 sarcolemma GO:0042383 9.43 UTRN SGCZ FLNC
4 intracellular non-membrane-bounded organelle GO:0043232 8.8 FLNC FLNB FLNA

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

# Name GO ID Score Top Affiliating Genes
1 blood vessel remodeling GO:0001974 9.56 FOXC1 FLNA
2 cytoskeleton organization GO:0007010 9.33 FLNC FLNB FLNA
3 muscle cell development GO:0055001 9.13 SGCZ FLNC
4 actin cytoskeleton organization GO:0030036 9.1 UTRN FLNC FLNB FLNA

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor binding GO:0140297 9.55 PITX2 FOXC1 FLNA
2 actin binding GO:0003779 9.43 UTRN FLNC FLNB FLNA
3 actin filament binding GO:0051015 9.23 UTRN FLNC FLNB FLNA

Sources for Otopalatodigital Syndrome, Type Ii

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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