MCID: OTP007
MIFTS: 38

Otopalatodigital Syndrome, Type Ii

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

Aliases & Classifications for Otopalatodigital Syndrome, Type Ii

MalaCards integrated aliases for Otopalatodigital Syndrome, Type Ii:

Name: Otopalatodigital Syndrome, Type Ii 57 13 40
Oto-Palato-Digital Syndrome, Type Ii 25 29 6
Otopalatodigital Syndrome Type 2 53 25 59
Faciopalatoosseous Syndrome 57 53 25
Cranioorodigital Syndrome 57 25 75
Fpo 57 53 25
Opd Ii Syndrome 57 59
Opd Syndrome 2 57 59
Opd2 57 75
Oto-Palato-Digital Syndrome Type 1 73
Oto-Palato-Digital Syndrome Type 2 53
Faciopalatoosseous Syndrome; Fpo 57
Cranio-Oro-Digital Syndrome 53
Otopalatodigital Syndrome 2 75
Opd Syndrome, Type 2 25
Taybi Syndrome 25
Andre Syndrome 53
Opd 2 Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
otopalatodigital syndrome type 2
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
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:

32
otopalatodigital syndrome, type ii:
Mortality/Aging stillbirth
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Otopalatodigital Syndrome, Type Ii

NIH Rare Diseases : 53 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 (see this term), 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; see these terms), 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 (see this term)/encephalocele, cerebellar hypoplasia, hydrocephalus), heart (congenital valvular heart defects), intestine, genitourinary system (hydronephrosis ± urethral valve/reflux, hypospadias, epispadias (see this term)). Congenital corneal opacities, bilobed tongue, deafness, and Dandy-Walker malformation have been reported in a minority of OPD2 cases. Congenital glaucoma (see this term) 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) (see these terms)).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 2 and rubinstein-taybi syndrome 1. 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

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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 all 13)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 2 12.4
2 rubinstein-taybi syndrome 1 12.4
3 chromosome 16p13.3 deletion syndrome, proximal 12.2
4 otopalatodigital syndrome, type i 11.3
5 pilomatrixoma 11.2
6 frontometaphyseal dysplasia 11.2
7 oto-palatal-digital syndrome 10.9
8 atelosteogenesis, type i 10.0
9 boomerang dysplasia 10.0
10 melnick-needles syndrome 10.0
11 atelosteogenesis 10.0
12 type i 10.0
13 omphalocele 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Respiratory:
respiratory failure

Abdomen Gastrointestinal:
omphalocele

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Kidneys:
hydronephrosis

Skeletal Pelvis:
congenital hip dislocation
hypoplastic ilia

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

Human phenotypes related to Otopalatodigital Syndrome, Type Ii:

59 32 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
9 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
12 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
14 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
15 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
16 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
17 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
18 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
19 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
20 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
21 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
22 abnormality of the pinna 59 32 hallmark (90%) Very frequent (99-80%) HP:0000377
23 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
24 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
25 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
26 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
27 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
28 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
29 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
30 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
31 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
32 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
33 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
34 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
35 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
36 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
37 tarsal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008368
38 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
39 omphalocele 59 32 frequent (33%) Frequent (79-30%) HP:0001539
40 abnormal vertebral segmentation and fusion 59 32 frequent (33%) Frequent (79-30%) HP:0005640
41 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
42 hypoplastic frontal sinuses 59 32 frequent (33%) Frequent (79-30%) HP:0002738
43 fibular aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002990
44 myelomeningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002475
45 oligodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000677
46 pierre-robin sequence 59 32 frequent (33%) Frequent (79-30%) HP:0000201
47 flared iliac wings 59 32 frequent (33%) Frequent (79-30%) HP:0002869
48 congenital glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001087
49 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
50 preaxial polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100258

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 29 FLNA

Anatomical Context for Otopalatodigital Syndrome, Type Ii

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

41
Bone, Heart, Brain, Kidney, Tongue

Publications for Otopalatodigital Syndrome, Type Ii

Articles related to Otopalatodigital Syndrome, Type Ii:

# Title Authors Year
1
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. ( 17264970 )
2007
2
Distraction in a case of otopalatodigital syndrome type II. ( 16759327 )
2006
3
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. ( 10377016 )
1999
4
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
5
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. ( 9268106 )
1997
6
Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. ( 8055140 )
1994
7
Otopalatodigital syndrome type II. ( 8487277 )
1993
8
Otopalatodigital syndrome type II associated with omphalocele: report of three cases. ( 8465856 )
1993
9
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. ( 2368807 )
1990
10
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:

75
# 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 495)
# 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.629G> T (p.Cys210Phe) single nucleotide variant Pathogenic rs137853318 GRCh37 Chromosome X, 153596100: 153596100
6 FLNA NM_001110556.1(FLNA): c.629G> T (p.Cys210Phe) single nucleotide variant Pathogenic rs137853318 GRCh38 Chromosome X, 154367732: 154367732
7 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh37 Chromosome X, 153578560: 153578560
8 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh38 Chromosome X, 154350192: 154350192
9 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh37 Chromosome X, 153577722: 153577722
10 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh38 Chromosome X, 154349354: 154349354
11 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh37 Chromosome X, 153587738: 153587738
12 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh38 Chromosome X, 154359370: 154359370
13 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh37 Chromosome X, 153585881: 153585881
14 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh38 Chromosome X, 154357513: 154357513
15 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh37 Chromosome X, 153587375: 153587375
16 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh38 Chromosome X, 154359007: 154359007
17 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh37 Chromosome X, 153587934: 153587934
18 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh38 Chromosome X, 154359566: 154359566
19 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh38 Chromosome X, 154364378: 154364378
20 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh37 Chromosome X, 153592746: 153592746
21 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh37 Chromosome X, 153593613: 153593613
22 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh38 Chromosome X, 154365245: 154365245
23 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh37 Chromosome X, 153593041: 153593041
24 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh38 Chromosome X, 154364673: 154364673
25 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh37 Chromosome X, 153590902: 153590902
26 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh38 Chromosome X, 154362534: 154362534
27 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh37 Chromosome X, 153588878: 153588878
28 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh38 Chromosome X, 154360510: 154360510
29 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh37 Chromosome X, 153588203: 153588203
30 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh38 Chromosome X, 154359835: 154359835
31 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh37 Chromosome X, 153587406: 153587406
32 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh38 Chromosome X, 154359038: 154359038
33 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh37 Chromosome X, 153586585: 153586585
34 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh38 Chromosome X, 154358217: 154358217
35 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh37 Chromosome X, 153578510: 153578510
36 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh38 Chromosome X, 154350142: 154350142
37 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh37 Chromosome X, 153578063: 153578063
38 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh38 Chromosome X, 154349695: 154349695
39 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh37 Chromosome X, 153577800: 153577800
40 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh38 Chromosome X, 154349432: 154349432
41 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh37 Chromosome X, 153595901: 153595901
42 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh38 Chromosome X, 154367533: 154367533
43 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh37 Chromosome X, 153595186: 153595186
44 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh38 Chromosome X, 154366818: 154366818
45 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh37 Chromosome X, 153594966: 153594966
46 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh38 Chromosome X, 154366598: 154366598
47 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh37 Chromosome X, 153581582: 153581582
48 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh38 Chromosome X, 154353214: 154353214
49 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh38 Chromosome X, 154358526: 154358526
50 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh37 Chromosome X, 153586894: 153586894

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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