OPD2
MCID: OTP007
MIFTS: 40

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 58 13 41
Oto-Palato-Digital Syndrome, Type Ii 26 30 6
Otopalatodigital Syndrome Type 2 54 26 60
Faciopalatoosseous Syndrome 58 54 26
Cranioorodigital Syndrome 58 26 76
Fpo 58 54 26
Opd Ii Syndrome 58 60
Opd Syndrome 2 58 60
Opd2 58 76
Oto-Palato-Digital Syndrome Type 1 74
Oto-Palato-Digital Syndrome Type 2 54
Faciopalatoosseous Syndrome; Fpo 58
Cranio-Oro-Digital Syndrome 54
Otopalatodigital Syndrome 2 76
Opd Syndrome, Type 2 26
Taybi Syndrome 26
Andre Syndrome 54
Opd 2 Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
otopalatodigital syndrome type 2
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
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:

33
otopalatodigital syndrome, type ii:
Clinical modifier stillbirth
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Otopalatodigital Syndrome, Type Ii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90652Disease definitionOtopalatodigital syndrome type 2 (OPD2) is 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.EpidemiologyTo date, more than 40 cases of 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 geneFLNA (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 oto-palato-digital syndrome, type ii, is related to rubinstein-taybi syndrome 1 and rubinstein-taybi syndrome 2. An important gene associated with Otopalatodigital Syndrome, Type Ii is FLNA (Filamin A). Affiliated tissues include bone, heart and brain, and related phenotypes are malar flattening and hypertelorism

Genetics Home Reference : 26 Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, 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 2 also tends to cause problems in other areas of the body, such as the brain and heart.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 Spectrum Disorders 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 113)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 12.7
2 rubinstein-taybi syndrome 2 12.6
3 chromosome 16p13.3 deletion syndrome, proximal 12.3
4 otopalatodigital syndrome, type i 11.8
5 pilomatrixoma 11.4
6 frontometaphyseal dysplasia 11.4
7 frontometaphyseal dysplasia 1 11.3
8 oto-palatal-digital syndrome 11.1
9 floating-harbor syndrome 11.1
10 coffin-lowry syndrome 11.1
11 atelosteogenesis, type iii 10.4
12 keloids 10.3
13 atelosteogenesis, type i 10.2
14 boomerang dysplasia 10.2
15 melnick-needles syndrome 10.2
16 atelosteogenesis 10.2
17 medulloblastoma 10.1
18 omphalocele 10.1
19 cleft tongue 10.1
20 coloboma of macula 10.0
21 scoliosis 10.0
22 autism 10.0
23 rothmund-thomson syndrome 10.0
24 menke-hennekam syndrome 1 10.0
25 menke-hennekam syndrome 2 10.0
26 leukemia 10.0
27 congenital hypothyroidism 10.0
28 sleep apnea 10.0
29 lymphoma 10.0
30 juvenile glaucoma 10.0
31 hypothyroidism 10.0
32 slipped capital femoral epiphysis 10.0
33 epiphysiolysis of the hip 10.0
34 anterior segment dysgenesis 1 9.8
35 gastroesophageal reflux 9.8
36 cleft palate, isolated 9.8
37 cornelia de lange syndrome 1 9.8
38 hirschsprung disease 1 9.8
39 myositis 9.8
40 nevus, epidermal 9.8
41 pheochromocytoma 9.8
42 piebald trait 9.8
43 polydactyly, postaxial, type a1 9.8
44 retinal detachment 9.8
45 spondylolisthesis 9.8
46 anus, imperforate 9.8
47 chiari malformation type ii 9.8
48 glaucoma 3, primary congenital, a 9.8
49 familial mediterranean fever 9.8
50 neuroblastoma 1 9.8

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:

60 33 (show top 50) (show all 98)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
4 prominent supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0000336
5 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
6 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
7 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
8 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
9 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
10 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
11 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
12 abnormality of the pinna 60 33 hallmark (90%) Very frequent (99-80%) HP:0000377
13 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
14 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
15 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
16 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
17 short hallux 60 33 hallmark (90%) Very frequent (99-80%) HP:0010109
18 pulmonary hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002089
19 oligodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000677
20 short thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009778
21 anodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000674
22 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
23 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
24 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
25 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
26 thickened calvaria 60 33 frequent (33%) Frequent (79-30%) HP:0002684
27 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162
28 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
29 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
30 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
31 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
32 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
33 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
34 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
35 increased bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0011001
36 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
37 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
38 omphalocele 60 33 frequent (33%) Frequent (79-30%) HP:0001539
39 abnormal vertebral segmentation and fusion 60 33 frequent (33%) Frequent (79-30%) HP:0005640
40 hypoplastic frontal sinuses 60 33 frequent (33%) Frequent (79-30%) HP:0002738
41 fibular aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002990
42 pierre-robin sequence 60 33 frequent (33%) Frequent (79-30%) HP:0000201
43 flared iliac wings 60 33 frequent (33%) Frequent (79-30%) HP:0002869
44 ureteral obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0006000
45 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
46 abnormal heart valve morphology 33 frequent (33%) HP:0001654
47 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
48 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
49 synostosis of carpal bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0005048
50 tarsal synostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008368

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

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

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
small mouth

Skeletal Skull:
wormian bones
midface hypoplasia
small mandible
sclerotic skull base
late closure of large anterior fontanel
more
Growth Other:
postnatal growth retardation

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Kidneys:
hydronephrosis

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

Skeletal:
dysharmonic bone maturation

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

Neurologic Central Nervous System:
hydrocephalus
mental retardation

Head And Neck Face:
prominent forehead
midface hypoplasia
severe micrognathia

Chest External Features:
narrow chest

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
congenital hip dislocation
hypoplastic ilia

Respiratory:
respiratory failure

Abdomen Gastrointestinal:
omphalocele

Skeletal Hands:
syndactyly
postaxial polydactyly
short, broad thumbs
flexed, overlapping fingers
second finger clinodactyly
more
Head And Neck Nose:
flat nasal bridge

Skeletal Spine:
spondylolysis
flattened vertebrae

Clinical features from OMIM:

304120

Drugs & Therapeutics for Otopalatodigital Syndrome, Type Ii

Search Clinical Trials , NIH Clinical Center for Otopalatodigital Syndrome, Type Ii

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 30 FLNA

Anatomical Context for Otopalatodigital Syndrome, Type Ii

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

42
Bone, Heart, Brain, Tongue, Kidney, B Cells, T Cells

Publications for Otopalatodigital Syndrome, Type Ii

Articles related to Otopalatodigital Syndrome, Type Ii:

(show all 15)
# Title Authors Year
1
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. ( 19773341 )
2009
2
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. ( 17264970 )
2007
3
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. ( 17431908 )
2007
4
Distraction in a case of otopalatodigital syndrome type II. ( 16759327 )
2006
5
Filamin A: phenotypic diversity. ( 15917206 )
2005
6
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology. ( 11102922 )
2000
7
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. ( 10377016 )
1999
8
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. ( 9409862 )
1997
9
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. ( 9268106 )
1997
10
Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. ( 8055140 )
1994
11
Otopalatodigital syndrome type II associated with omphalocele: report of three cases. ( 8465856 )
1993
12
Otopalatodigital syndrome type II. ( 8487277 )
1993
13
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. ( 2368807 )
1990
14
Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification. ( 2114799 )
1990
15
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. ( 3976718 )
1985

Variations for Otopalatodigital Syndrome, Type Ii

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

76
# 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

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type Ii:

6 (show top 50) (show all 689)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.760G> A (p.Glu254Lys) single nucleotide variant Pathogenic rs28935470 GRCh37 Chromosome X, 153595873: 153595873
2 FLNA NM_001110556.1(FLNA): c.760G> A (p.Glu254Lys) single nucleotide variant Pathogenic rs28935470 GRCh38 Chromosome X, 154367505: 154367505
3 FLNA NM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu) single nucleotide variant Pathogenic rs28935473 GRCh37 Chromosome X, 153588567: 153588567
4 FLNA NM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu) single nucleotide variant Pathogenic rs28935473 GRCh38 Chromosome X, 154360199: 154360199
5 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh37 Chromosome X, 153588606: 153588606
6 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh38 Chromosome X, 154360238: 154360238
7 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh37 Chromosome X, 153596246: 153596246
8 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh38 Chromosome X, 154367878: 154367878
9 FLNA NM_001110556.1(FLNA): c.629G> T (p.Cys210Phe) single nucleotide variant Pathogenic rs137853318 GRCh37 Chromosome X, 153596100: 153596100
10 FLNA NM_001110556.1(FLNA): c.629G> T (p.Cys210Phe) single nucleotide variant Pathogenic rs137853318 GRCh38 Chromosome X, 154367732: 154367732
11 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh37 Chromosome X, 153594535: 153594535
12 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh38 Chromosome X, 154366167: 154366167
13 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh37 Chromosome X, 153594384: 153594384
14 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh38 Chromosome X, 154366016: 154366016
15 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
16 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
17 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh37 Chromosome X, 153589736: 153589736
18 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh38 Chromosome X, 154361368: 154361368
19 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh37 Chromosome X, 153588840: 153588840
20 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh38 Chromosome X, 154360472: 154360472
21 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh37 Chromosome X, 153588784: 153588784
22 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh38 Chromosome X, 154360416: 154360416
23 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh37 Chromosome X, 153587654: 153587654
24 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh38 Chromosome X, 154359286: 154359286
25 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh37 Chromosome X, 153585827: 153585827
26 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh38 Chromosome X, 154357459: 154357459
27 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh37 Chromosome X, 153583007: 153583007
28 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh38 Chromosome X, 154354639: 154354639
29 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh37 Chromosome X, 153581714: 153581714
30 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh38 Chromosome X, 154353346: 154353346
31 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh37 Chromosome X, 153580676: 153580676
32 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh38 Chromosome X, 154352308: 154352308
33 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh37 Chromosome X, 153596066: 153596066
34 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh38 Chromosome X, 154367698: 154367698
35 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh37 Chromosome X, 153580576: 153580576
36 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh38 Chromosome X, 154352208: 154352208
37 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh37 Chromosome X, 153595225: 153595225
38 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh38 Chromosome X, 154366857: 154366857
39 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh37 Chromosome X, 153595205: 153595205
40 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh38 Chromosome X, 154366837: 154366837
41 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh37 Chromosome X, 153594582: 153594582
42 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh38 Chromosome X, 154366214: 154366214
43 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh37 Chromosome X, 153593616: 153593616
44 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh38 Chromosome X, 154365248: 154365248
45 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh37 Chromosome X, 153589838: 153589838
46 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh38 Chromosome X, 154361470: 154361470
47 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh37 Chromosome X, 153594728: 153594728
48 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh38 Chromosome X, 154366360: 154366360
49 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh37 Chromosome X, 153593497: 153593497
50 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh38 Chromosome X, 154365129: 154365129

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

7
# CNVD ID Chromosom 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

GO Terms for Otopalatodigital Syndrome, Type Ii

Sources for Otopalatodigital Syndrome, Type Ii

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