OPD2
MCID: OTP007
MIFTS: 56

Otopalatodigital Syndrome, Type Ii (OPD2)

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

Aliases & Classifications for Otopalatodigital Syndrome, Type Ii

MalaCards integrated aliases for Otopalatodigital Syndrome, Type Ii:

Name: Otopalatodigital Syndrome, Type Ii 57 13 39
Otopalatodigital Syndrome Type 2 12 20 43 58 15
Faciopalatoosseous Syndrome 57 12 20 43
Oto-Palato-Digital Syndrome, Type Ii 43 29 6
Cranioorodigital Syndrome 57 43 73
Opd Ii Syndrome 57 12 58
Opd Syndrome 2 57 12 58
Opd2 57 12 73
Fpo 57 20 43
Oto-Palato-Digital Syndrome Type 2 12 20
Andre Syndrome 12 20
Oto-Palato-Digital Syndrome, Type 2 44
Oto-Palato-Digital Syndrome Type 1 71
Otopalatodigital Syndrome Type Ii 12
Faciopalatoosseous Syndrome; Fpo 57
Cranio-Oro-Digital Syndrome 20
Otopalatodigital Syndrome 2 73
Opd Syndrome, Type 2 43
Taybi Syndrome 43
Opd 2 Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
otopalatodigital syndrome type 2
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked dominant

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


HPO:

31
otopalatodigital syndrome, type ii:
Onset and clinical course stillbirth
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 Ii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90652DefinitionA 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.EpidemiologyTo date, more than 40 cases of Otopalatodigital syndrome type 2 (OPD2) have been described in the literature.Clinical descriptionOPD2 is a congenital disorder. Intrauterine growth is usually normal and affected infants have large anterior fontanels, and facial dysmorphism including broad forehead and lateral fullness of the supraorbital ridge, hypertelorism, downslanting palpebral fissures, stubby nose with a flat root, midfacial hypoplasia, microstomia (with typical down turned bow of the upper lip), micrognathia, Pierre Robin sequence, posterior cleft palate (submucosal cleft palate or cleft velum), glossoptosis, malformed and/or apparently low-set ears. Additional features include skeletal anomalies: pectus deformity, short limbs, campomelia, fibular agenesis, flexion contractures of elbows, knees, rocker bottom or equinovarus feet, syndactyly (usually involving fingers III and IV in the hands and toes II to V in the feet), camptodactyly of fingers, and absent halluces. Extraskeletal malformations include malformations of the central nervous system (myelomeningocele /encephalocele, cerebellar hypoplasia, hydrocephalus), heart (congenital valvular heart defects), intestine, genitourinary system (hydronephrosis ? urethral valve/reflux, hypospadias, epispadias). Congenital corneal opacities, bilobed tongue, deafness, and Dandy-Walker malformation have been reported in a minority of OPD2 cases. Congenital glaucoma and cataracts have been described in one patient. Psychomotor development varies from normal to mild intellectual disability. Carrier females with OPD2 can be asymptomatic or exhibit a phenotype that can extend from a mild subclinical osteodysplasia to a presentation indistinguishable from that of affected males. Prognosis of OPD2 is poor and perinatal death is common, secondary to cardio respiratory failure.EtiologyOPD2 is caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. However the pathogenesis is still elusive. OPD2 is allelic with 4 other skeletal dysplasias (OPD1, Melnick-Needles syndrome (MNS), terminal osseous dysplasia - pigmentary defects (TOD) and frontometaphyseal dysplasia (FMD)).Genetic counselingOPD2 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 are less severely affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Otopalatodigital Syndrome, Type Ii, also known as otopalatodigital syndrome type 2, is related to terminal osseous dysplasia and frontometaphyseal dysplasia 1. An important gene associated with Otopalatodigital Syndrome, Type Ii is FLNA (Filamin A), and among its related pathways/superpathways are Proteoglycans in cancer and Heart Development. The drugs Valproic acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and bone, and related phenotypes are hearing impairment and skeletal dysplasia

Disease Ontology : 12 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.

MedlinePlus Genetics : 43 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.

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 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Otopalatodigital syndrome 2: 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 280)
# Related Disease Score Top Affiliating Genes
1 terminal osseous dysplasia 32.2 LOC107988032 FLNA
2 frontometaphyseal dysplasia 1 32.1 LOC107988032 FLNA
3 frontometaphyseal dysplasia 31.3 RFLNB POLR1C LOC107988032 FLNC FLNB FLNA
4 boomerang dysplasia 30.6 FLNC FLNB FLNA
5 atelosteogenesis 30.6 FLNC FLNB FLNA
6 melnick-needles syndrome 30.4 LOC107988032 FLNC FLNB FLNA
7 oto-palatal-digital syndrome 30.3 LOC107988032 FLNA
8 blood group, i system 30.2 LOC107988032 FLNA
9 otopalatodigital syndrome, type i 30.2 RFLNB FLNB FLNA
10 coloboma of macula 30.1 POLR1C PITX2 FOXC1
11 skeletal dysplasias 30.1 FLNB FLNA
12 juvenile glaucoma 30.1 PITX2 FOXC1
13 megalocornea 29.9 PITX2 FOXC1
14 anterior segment dysgenesis 1 29.9 PITX2 FOXC1
15 cleft palate, isolated 29.9 POLR1C PITX2 FLNB FLNA
16 periventricular nodular heterotopia 29.6 LOC107988032 FLNC FLNB FLNA FILIP1
17 chromosome 16p13.3 deletion syndrome, proximal 11.9
18 rubinstein-taybi syndrome 1 11.7
19 rubinstein-taybi syndrome 2 11.7
20 pilomatrixoma 11.2
21 menke-hennekam syndrome 1 11.0
22 menke-hennekam syndrome 2 11.0
23 floating-harbor syndrome 11.0
24 coffin-lowry syndrome 11.0
25 dysostosis 11.0
26 alacrima, achalasia, and mental retardation syndrome 10.6
27 microcephaly 10.5
28 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 10.3 LOC107988032 FLNA
29 flna-related periventricular nodular heterotopia 10.3 LOC107988032 FLNA
30 fg syndrome 2 10.3 LOC107988032 FLNA
31 intraocular pressure quantitative trait locus 10.3
32 periventricular nodular heterotopia 1 10.3 LOC107988032 FLNA
33 atelosteogenesis, type iii 10.3
34 atelosteogenesis, type ii 10.3
35 hypospadias 10.3
36 cataract 10.3
37 flnb disorders 10.3
38 strabismus 10.3
39 mechanical strabismus 10.3
40 cardiac valvular dysplasia, x-linked 10.3 LOC107988032 FLNA
41 scoliosis 10.3
42 atelosteogenesis, type i 10.2
43 hypertelorism 10.2
44 cryptorchidism, unilateral or bilateral 10.2
45 patent ductus arteriosus 1 10.2
46 ptosis 10.2
47 pre-eclampsia 10.2
48 keloid disorder 10.2
49 axenfeld-rieger syndrome, type 2 10.2 PITX2 FOXC1
50 acquired color blindness 10.2 PITX2 FOXC1

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 31 (show top 50) (show all 95)
# 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 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
7 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
8 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
9 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
12 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
13 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
14 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
15 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
16 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
17 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
18 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
19 oligodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000677
20 abnormality of the pinna 58 31 hallmark (90%) Very frequent (99-80%) HP:0000377
21 anodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000674
22 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
23 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
24 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
25 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
26 thickened calvaria 58 31 frequent (33%) Frequent (79-30%) HP:0002684
27 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
28 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
29 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
30 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
31 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
32 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
33 increased bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0011001
34 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
35 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
36 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
37 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
38 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
39 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539
40 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
41 abnormal vertebral segmentation and fusion 58 31 frequent (33%) Frequent (79-30%) HP:0005640
42 hypoplastic frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002738
43 fibular aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002990
44 pierre-robin sequence 58 31 frequent (33%) Frequent (79-30%) HP:0000201
45 flared iliac wings 58 31 frequent (33%) Frequent (79-30%) HP:0002869
46 ureteral obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0006000
47 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
48 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
49 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
50 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

MGI Mouse Phenotypes related to Otopalatodigital Syndrome, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.1 CTSH FLNA FLNB FLNC FOXC1 PITX2

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

Interventional clinical trials:


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

Search NIH Clinical Center for Otopalatodigital Syndrome, Type 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 29 FLNA

Anatomical Context for Otopalatodigital Syndrome, Type Ii

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

40
Heart, Tongue, Bone

Publications for Otopalatodigital Syndrome, Type Ii

Articles related to Otopalatodigital Syndrome, Type Ii:

(show all 33)
# 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. 6 57 61
17431908 2007
2
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6 57
17264970 2007
3
Filamin A: phenotypic diversity. 6 57
15917206 2005
4
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. 57 61
11398100 2001
5
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 57 61
10706363 2000
6
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. 57 61
9409862 1997
7
Otopalatodigital syndrome type II. 57 61
8487277 1993
8
Otopalatodigital syndrome type II associated with omphalocele: report of three cases. 61 57
8465856 1993
9
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 6
19773341 2009
10
Tracheomalacia in siblings with otopalatodigital syndrome. 57
18412116 2008
11
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 57
16926860 2007
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
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 57
12612583 2003
14
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 57
12503106 2003
15
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology. 57
11102922 2000
16
Oto-palato-digital syndrome type II in two unrelated boys. 57
8026107 1994
17
Oto-palato-digital syndrome type II. 57
8031537 1994
18
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 57
1785627 1991
19
Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification. 57
2114799 1990
20
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. 57
3976718 1985
21
The oto-palato-digital syndrome, proposed type II. 57
6614053 1983
22
Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome. 57
7229752 1981
23
Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers. 57
896356 1977
24
A familial syndrome of cranial, facial, oral and limb anomalies. 57
975599 1976
25
Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation. 61
27625837 2013
26
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. 61
21412975 2011
27
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 61
20186808 2010
28
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
29
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. 61
17009344 2006
30
Distraction in a case of otopalatodigital syndrome type II. 61
16759327 2006
31
X-Linked Otopalatodigital Spectrum Disorders 61
20301567 2005
32
Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. 61
15378534 2004
33
Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. 61
8055140 1994

Variations for Otopalatodigital Syndrome, Type Ii

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type Ii:

6 (show top 50) (show all 609)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) SNV Pathogenic 11773 rs137853318 X:153596100-153596100 X:154367732-154367732
2 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 X:153588495-153588495 X:154360127-154360127
3 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 X:153581697-153581698 X:154353329-154353330
4 FLNA NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) SNV Pathogenic 11759 rs28935473 X:153588567-153588567 X:154360199-154360199
5 LOC107988032 NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 X:153577381-153577382 X:154349013-154349014
6 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 X:153585895-153585907 X:154357527-154357539
7 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 X:153594986-153594987 X:154366618-154366619
8 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 X:153588634-153588634 X:154360266-154360266
9 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 X:153588265-153588265 X:154359897-154359897
10 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 X:153588606-153588606 X:154360238-154360238
11 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 X:153582326-153582326 X:154353958-154353958
12 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 X:153596053-153596053 X:154367685-154367685
13 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 X:153586596-153586596 X:154358228-154358228
14 LOC107988032 NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 X:153577288-153577289 X:154348920-154348921
15 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 X:153581806-153581807 X:154353438-154353439
16 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 X:153588214-153588214 X:154359846-154359846
17 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 X:153590899-153590899 X:154362531-154362531
18 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 X:153588859-153588867 X:154360491-154360499
19 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 X:153590785-153590785 X:154362417-154362417
20 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 X:153594961-153594961 X:154366593-154366593
21 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 X:153582022-153582022 X:154353654-154353654
22 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 X:153594745-153594745 X:154366377-154366377
23 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 X:153583193-153583193 X:154354825-154354825
24 LOC107988032 NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) Microsatellite Pathogenic 938503 X:153577873-153577874 X:154349505-154349506
25 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) Deletion Pathogenic 940733 X:153592978-153592984 X:154364610-154364616
26 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 941466 X:153588421-153588421 X:154360053-154360053
27 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic 234717 rs782308324 X:153578477-153578477 X:154350109-154350109
28 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) Duplication Pathogenic 959608 X:153591149-153591150 X:154362781-154362782
29 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) Deletion Pathogenic 964600 X:153580732-153580732 X:154352364-154352364
30 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic 967048 X:153594817-153594817 X:154366449-154366449
31 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic 959369 X:153585923-153585923 X:154357555-154357555
32 FLNA NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) SNV Pathogenic 11756 rs28935470 X:153595873-153595873 X:154367505-154367505
33 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic 11772 rs137853317 X:153596246-153596246 X:154367878-154367878
34 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 11772 rs137853317 X:153596246-153596246 X:154367878-154367878
35 LOC107988032 NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) Microsatellite Likely pathogenic 854776 X:153577388-153577390 X:154349020-154349022
36 FLNA NM_001110556.2(FLNA):c.2827-2A>C SNV Likely pathogenic 859086 X:153590157-153590157 X:154361789-154361789
37 FLNA NM_001110556.2(FLNA):c.1065+1G>T SNV Likely pathogenic 841425 X:153594929-153594929 X:154366561-154366561
38 FLNA NM_001110556.2(FLNA):c.4142+1G>A SNV Likely pathogenic 662049 rs1603360906 X:153587851-153587851 X:154359483-154359483
39 FLNA NM_001110556.2(FLNA):c.4596_4598+5del Deletion Likely pathogenic 464993 rs1557177279 X:153586808-153586815 X:154358440-154358447
40 FLNA NM_001110556.2(FLNA):c.4143-1G>T SNV Likely pathogenic 464989 rs1557177485 X:153587775-153587775 X:154359407-154359407
41 FLNA NM_001110556.2(FLNA):c.5686+1G>C SNV Likely pathogenic 533566 rs1557176315 X:153582282-153582282 X:154353914-154353914
42 FLNA NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) SNV Uncertain significance 533567 rs1557175646 X:153579378-153579378 X:154351010-154351010
43 FLNA NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) SNV Uncertain significance 533568 rs1557178932 X:153593582-153593582 X:154365214-154365214
44 FLNA NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) SNV Uncertain significance 533569 rs1557177627 X:153588218-153588218 X:154359850-154359850
45 FLNA NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) SNV Uncertain significance 435211 rs1557175878 X:153580284-153580284 X:154351916-154351916
46 FLNA NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) SNV Uncertain significance 533570 rs1557175818 X:153579999-153579999 X:154351631-154351631
47 LOC107988032 NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) SNV Uncertain significance 533571 rs782341270 X:153577261-153577261 X:154348893-154348893
48 FLNA NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) SNV Uncertain significance 423675 rs781827791 X:153594681-153594681 X:154366313-154366313
49 FLNA NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) SNV Uncertain significance 533572 rs1557178045 X:153589918-153589918 X:154361550-154361550
50 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain significance 533573 rs369668866 X:153588903-153588903 X:154360535-154360535

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:

7
# 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 11.44 FLNC FLNB FLNA
2 10.82 PITX2 FOXC1
3 10.53 FLNC FLNB FLNA

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 actin cytoskeleton GO:0015629 9.26 RFLNB FLNB FLNA FILIP1
2 actin filament bundle GO:0032432 9.16 RFLNB FLNA
3 Z disc GO:0030018 8.92 ITGB1BP2 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 epithelial to mesenchymal transition GO:0001837 9.32 RFLNB FLNA
2 positive regulation of protein import into nucleus GO:0042307 9.26 FLNA EFCAB7
3 blood vessel remodeling GO:0001974 9.16 FOXC1 FLNA
4 actin cytoskeleton organization GO:0030036 9.13 RFLNB FLNB FLNA
5 cell junction assembly GO:0034329 8.62 FLNC FLNA

Sources for Otopalatodigital Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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