OPD2
MCID: OTP007
MIFTS: 46

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 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 74
Fpo 57 53 25
Opd Ii Syndrome 57 59
Opd Syndrome 2 57 59
Opd2 57 74
Oto-Palato-Digital Syndrome Type 1 72
Oto-Palato-Digital Syndrome Type 2 53
Faciopalatoosseous Syndrome; Fpo 57
Cranio-Oro-Digital Syndrome 53
Otopalatodigital Syndrome 2 74
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:
Clinical modifier stillbirth
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 304120
MESH via Orphanet 45 C538089
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1844696
Orphanet 59 ORPHA90652
MedGen 42 C1844696
UMLS 72 C0265251

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: 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 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). 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 malar flattening and hypertelorism

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. 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). The base of the skull may be thickened. Some people with this disorder have hearing loss. Affected individuals are usually of short stature and may have abnormalities of the fingers and toes, such as unusual curvature of the fingers (camptodactyly) and shortened or absent thumbs and big toes. They may have bowed limbs; underdeveloped, irregular ribs that may cause problems with breathing; and other abnormal or absent bones. Some may be born with an opening in the roof of the mouth (a cleft palate). 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 than do females. Males with the disorder usually do not live beyond their first year, because their underdeveloped rib cage does not allow sufficient lung expansion for breathing.

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 : 74 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 261)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 12.8
2 rubinstein-taybi syndrome 2 12.8
3 chromosome 16p13.3 deletion syndrome, proximal 12.5
4 frontometaphyseal dysplasia 11.8
5 pilomatrixoma 11.8
6 floating-harbor syndrome 11.5
7 frontometaphyseal dysplasia 1 11.5
8 oto-palatal-digital syndrome 11.3
9 coffin-lowry syndrome 11.2
10 alacrima, achalasia, and mental retardation syndrome 10.5
11 microcephaly 10.5
12 atelosteogenesis, type iii 10.4
13 atelosteogenesis, type ii 10.4
14 hypospadias 10.4
15 respiratory failure 10.4
16 flnb-related disorders 10.4
17 intraocular pressure quantitative trait locus 10.3
18 strabismus 10.3
19 mechanical strabismus 10.3
20 scoliosis 10.3
21 atelosteogenesis, type i 10.2
22 boomerang dysplasia 10.2
23 melnick-needles syndrome 10.2
24 atelosteogenesis 10.2
25 otopalatodigital spectrum disorders 10.2
26 hypertelorism 10.2
27 cryptorchidism, unilateral or bilateral 10.2
28 patent ductus arteriosus 1 10.2
29 ptosis 10.2
30 medulloblastoma 10.2
31 pre-eclampsia 10.2
32 keloid disorder 10.2
33 coloboma of macula 10.2
34 sleep apnea 10.2
35 epicanthus 10.1
36 constipation 10.1
37 hypotonia 10.1
38 cleft palate, isolated 10.1
39 otopalatodigital syndrome, type i 10.1
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
41 omphalocele 10.1
42 anodontia 10.1
43 periventricular nodular heterotopia 10.1
44 hereditary spherocytosis 10.1
45 cleft tongue 10.1
46 obsolete: otopalatodigital syndrome 10.1
47 gastroesophageal reflux 10.0
48 keloid formation 10.0
49 autism 10.0
50 neuroblastoma 1 10.0

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:

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 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
5 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
6 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
7 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
8 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
9 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
10 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
11 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
12 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
13 abnormality of the pinna 59 32 hallmark (90%) Very frequent (99-80%) HP:0000377
14 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
15 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
16 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
17 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
18 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
19 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
20 oligodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000677
21 anodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000674
22 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
23 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
24 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
25 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
26 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
27 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
28 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
29 abnormal heart valve morphology 59 32 frequent (33%) Frequent (79-30%) HP:0001654
30 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
31 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
32 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
33 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
34 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
35 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
36 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
37 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
38 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
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 hypoplastic frontal sinuses 59 32 frequent (33%) Frequent (79-30%) HP:0002738
42 fibular aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002990
43 pierre-robin sequence 59 32 frequent (33%) Frequent (79-30%) HP:0000201
44 flared iliac wings 59 32 frequent (33%) Frequent (79-30%) HP:0002869
45 ureteral obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0006000
46 abnormal cardiac septum morphology 32 frequent (33%) HP:0001671
47 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
48 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
49 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
50 tarsal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008368

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
vertical clivus
midface hypoplasia
small mandible
sclerotic skull base
more
Growth Other:
postnatal growth retardation

Genitourinary External Genitalia Male:
hypospadias

Respiratory:
respiratory failure

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 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

Genitourinary Kidneys:
hydronephrosis

Abdomen Gastrointestinal:
omphalocele

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

Drugs & Therapeutics for Otopalatodigital Syndrome, Type Ii

Drugs for Otopalatodigital Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# 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 Tranquilizing Agents Phase 2
4 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Antimanic Agents Phase 2
7 Histone Deacetylase Inhibitors Phase 2
8 Psychotropic Drugs Phase 2
9 Anticonvulsants Phase 2

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

Search 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, Lung, Tongue, Eye

Publications for Otopalatodigital Syndrome, Type Ii

Articles related to Otopalatodigital Syndrome, Type Ii:

(show all 37)
# Title Authors PMID Year
1
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 38 8 71
17264970 2007
2
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 8 71
17431908 2007
3
Filamin A: phenotypic diversity. 8 71
15917206 2005
4
Otopalatodigital Spectrum Disorders 38 71
20301567 2005
5
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology. 38 8
11102922 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. 38 8
9409862 1997
7
Oto-palato-digital syndrome type II in two unrelated boys. 38 8
8026107 1994
8
Oto-palato-digital syndrome type II. 38 8
8031537 1994
9
Otopalatodigital syndrome type II. 38 8
8487277 1993
10
Otopalatodigital syndrome type II associated with omphalocele: report of three cases. 38 8
8465856 1993
11
Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification. 38 8
2114799 1990
12
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. 38 8
3976718 1985
13
The oto-palato-digital syndrome, proposed type II. 38 8
6614053 1983
14
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 71
19773341 2009
15
Tracheomalacia in siblings with otopalatodigital syndrome. 8
18412116 2008
16
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 8
16926860 2007
17
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 8
15654694 2005
18
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 8
12612583 2003
19
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 8
12503106 2003
20
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. 8
11398100 2001
21
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 8
10706363 2000
22
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 8
1785627 1991
23
Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome. 8
7229752 1981
24
Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers. 8
896356 1977
25
A familial syndrome of cranial, facial, oral and limb anomalies. 8
975599 1976
26
Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II. 38
26401283 2015
27
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 38
17638618 2007
28
Asphyxiating thoracic dystrophy with facial dysmorphism. 38
17202643 2006
29
Distraction in a case of otopalatodigital syndrome type II. 38
16759327 2006
30
[Oto-palato-digital syndrome, type II]. 38
11528829 2001
31
Coexistence of oto-palato-digital syndrome type II and Arnold-Chiari I malformation in an infant. 38
10522528 1999
32
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. 38
10377016 1999
33
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. 38
9268106 1997
34
Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. 38
8055140 1994
35
Multiple congenital anomalies associated with an oto-palato-digital syndrome type II. 38
8110417 1993
36
Oto-palato-digital syndrome type II. Report of two related cases. 38
1523048 1992
37
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. 38
2368807 1990

Variations for Otopalatodigital Syndrome, Type Ii

ClinVar genetic disease variations for Otopalatodigital Syndrome, Type Ii:

6 (show top 50) (show all 416)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA): c.3668C> T (p.Pro1223Leu) single nucleotide variant Pathogenic rs1060500716 X:153588495-153588495 X:154360127-154360127
2 FLNA NM_001110556.2(FLNA): c.5988_5989del (p.Cys1997fs) deletion Pathogenic rs1060500718 X:153581697-153581698 X:154353329-154353330
3 FLNA NM_001110556.2(FLNA): c.4840_4852del (p.Gly1614fs) deletion Pathogenic rs1557177086 X:153585895-153585907 X:154357527-154357539
4 FLNA NM_001110556.2(FLNA): c.999_1008dup (p.Asp337delinsArgGlnTer) duplication Pathogenic rs1557179357 X:153594987-153594996 X:154366619-154366628
5 FLNA NM_001110556.2(FLNA): c.3814del (p.Arg1272fs) deletion Pathogenic rs1557177636 X:153588265-153588265 X:154359897-154359897
6 FLNA NM_001110556.2(FLNA): c.3529G> T (p.Glu1177Ter) single nucleotide variant Pathogenic rs1557177738 X:153588634-153588634 X:154360266-154360266
7 FLNA NM_001110556.2(FLNA): c.760G> A (p.Glu254Lys) single nucleotide variant Pathogenic rs28935470 X:153595873-153595873 X:154367505-154367505
8 FLNA NM_001110556.2(FLNA): c.3596C> T (p.Ser1199Leu) single nucleotide variant Pathogenic rs28935473 X:153588567-153588567 X:154360199-154360199
9 FLNA NM_001110556.2(FLNA): c.629G> T (p.Cys210Phe) single nucleotide variant Pathogenic rs137853318 X:153596100-153596100 X:154367732-154367732
10 FLNA NM_001110556.2(FLNA): c.3865G> T (p.Gly1289Ter) single nucleotide variant Pathogenic X:153588214-153588214 X:154359846-154359846
11 FLNA NM_001110556.2(FLNA): c.2565+1G> A single nucleotide variant Pathogenic X:153590785-153590785 X:154362417-154362417
12 FLNA NM_001110556.2(FLNA): c.7872_7873del (p.Glu2625fs) deletion Pathogenic X:153577288-153577289 X:154348923-154348924
13 FLNA NM_001110556.2(FLNA): c.5879dup (p.Met1960fs) duplication Pathogenic X:153581807-153581807 X:154353439-154353439
14 FLNA NM_001110556.2(FLNA): c.2452del (p.Ala818fs) deletion Pathogenic X:153590899-153590899 X:154362531-154362531
15 FLNA NM_001110556.2(FLNA): c.5643del (p.Asn1881fs) deletion Pathogenic X:153582326-153582326 X:154353958-154353958
16 FLNA NM_001110556.2(FLNA): c.3296_3304delinsTCGG (p.Gly1099fs) indel Pathogenic X:153588859-153588867 X:154360491-154360499
17 FLNA NM_001110556.2(FLNA): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic/Likely pathogenic X:153596053-153596053 X:154367685-154367685
18 FLNA NM_001110556.2(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 X:153588606-153588606 X:154360238-154360238
19 FLNA NM_001110556.2(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797045044 X:153586596-153586596 X:154358228-154358228
20 FLNA NM_001110556.2(FLNA): c.5686+1G> C single nucleotide variant Likely pathogenic rs1557176315 X:153582282-153582282 X:154353914-154353914
21 FLNA NM_001110556.2(FLNA): c.4143-1G> T single nucleotide variant Likely pathogenic rs1557177485 X:153587775-153587775 X:154359407-154359407
22 FLNA NM_001110556.2(FLNA): c.4596_4598+5del deletion Likely pathogenic rs1557177279 X:153586808-153586815 X:154358440-154358447
23 FLNA NM_001110556.2(FLNA): c.4142+1G> A single nucleotide variant Likely pathogenic X:153587851-153587851 X:154359483-154359483
24 FLNA NM_001110556.2(FLNA): c.7362G> A (p.Thr2454=) single nucleotide variant Conflicting interpretations of pathogenicity rs369179210 X:153578207-153578207 X:154349839-154349839
25 FLNA NM_001110556.2(FLNA): c.3708C> T (p.Gly1236=) single nucleotide variant Conflicting interpretations of pathogenicity rs200363918 X:153588455-153588455 X:154360087-154360087
26 FLNA NM_001110556.2(FLNA): c.6993C> T (p.Asp2331=) single nucleotide variant Conflicting interpretations of pathogenicity rs201153928 X:153579979-153579979 X:154351611-154351611
27 FLNA NM_001110556.2(FLNA): c.5218-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs370196495 X:153583083-153583083 X:154354715-154354715
28 FLNA NM_001110556.2(FLNA): c.3330G> A (p.Ala1110=) single nucleotide variant Conflicting interpretations of pathogenicity rs781917512 X:153588833-153588833 X:154360465-154360465
29 FLNA NM_001110556.2(FLNA): c.1450C> T (p.Arg484Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61730768 X:153593834-153593834 X:154365466-154365466
30 FLNA NM_001110556.2(FLNA): c.7092C> A (p.Ile2364=) single nucleotide variant Conflicting interpretations of pathogenicity rs782591917 X:153579341-153579341 X:154350973-154350973
31 FLNA NM_001110556.2(FLNA): c.4106C> T (p.Thr1369Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs376774130 X:153587888-153587888 X:154359520-154359520
32 FLNA NM_001110556.2(FLNA): c.7779_7780insTTCGGGG (p.Val2594fs) insertion Conflicting interpretations of pathogenicity rs1557175195 X:153577381-153577382 X:154349013-154349014
33 FLNA NM_001110556.2(FLNA): c.1997C> T (p.Ala666Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374295965 X:153592919-153592919 X:154364551-154364551
34 FLNA NM_001110556.2(FLNA): c.1900C> G (p.Arg634Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs111516546 X:153593016-153593016 X:154364648-154364648
35 FLNA NM_001110556.2(FLNA): c.3036G> A (p.Ser1012=) single nucleotide variant Conflicting interpretations of pathogenicity rs373908435 X:153589847-153589847 X:154361479-154361479
36 FLNA NM_001110556.2(FLNA): c.2389G> A (p.Ala797Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201073998 X:153591044-153591044 X:154362676-154362676
37 FLNA NM_001110556.2(FLNA): c.7389G> A (p.Ser2463=) single nucleotide variant Conflicting interpretations of pathogenicity rs373103712 X:153578180-153578180 X:154349812-154349812
38 FLNA NM_001110556.2(FLNA): c.65A> G (p.Asp22Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs782598729 X:153599549-153599549 X:154371181-154371181
39 FLNA NM_001110556.2(FLNA): c.4475-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199652065 X:153586940-153586940 X:154358572-154358572
40 FLNA NM_001110556.2(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 X:153596246-153596246 X:154367878-154367878
41 FLNA NM_001110556.2(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 X:153594384-153594384 X:154366016-154366016
42 FLNA NM_001110556.2(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 X:153588784-153588784 X:154360416-154360416
43 FLNA NM_001110556.2(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 X:153587654-153587654 X:154359286-154359286
44 FLNA NM_001110556.2(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 X:153589736-153589736 X:154361368-154361368
45 FLNA NM_001110556.2(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 X:153593497-153593497 X:154365129-154365129
46 FLNA NM_001110556.2(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 X:153594582-153594582 X:154366214-154366214
47 FLNA NM_001110556.2(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 X:153593616-153593616 X:154365248-154365248
48 FLNA NM_001110556.2(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 X:153589838-153589838 X:154361470-154361470
49 FLNA NM_001110556.2(FLNA): c.2725G> A (p.Val909Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199911951 X:153590448-153590448 X:154362080-154362080
50 FLNA NM_001110556.2(FLNA): c.2178C> T (p.Asn726=) single nucleotide variant Conflicting interpretations of pathogenicity rs371501734 X:153592492-153592492 X:154364124-154364124

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

74
# 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 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

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