FPO
MCID: OTP004
MIFTS: 34

Oto-Palato-Digital Syndrome Type 1 (FPO) malady

Neuronal, Ear, Bone, Fetal categories

Summaries for Oto-Palato-Digital Syndrome Type 1

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Otopalatodigital syndrome type 1 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 2, 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).

MalaCards: Oto-Palato-Digital Syndrome Type 1, also known as otopalatodigital syndrome type 1, is related to rubinstein-taybi syndrome and oto-palato-digital syndrome type 2, and has symptoms including large fontanelle/delayed fontanelle closure, frontal bossing/prominent forehead and hypertelorism. An important gene associated with Oto-Palato-Digital Syndrome Type 1 is FLNA (filamin A, alpha). Affiliated tissues include heart and kidney.

Description from OMIM:47 311300,304120

Aliases & Classifications for Oto-Palato-Digital Syndrome Type 1

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Ear, Bone


Characteristics (Orphanet epidemiological data):

49
taybi syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
otopalatodigital syndrome type 1:
Inheritance: X-linked dominant


Aliases & Descriptions:

oto-palato-digital syndrome type 1 43 22 61
otopalatodigital syndrome type 1 43 20 21 49
taybi syndrome 43 21 49
otopalatodigital syndrome, type i 47 61
otopalatodigital syndrome, type ii 61
faciopalatoosseous syndrome 21
cranioorodigital syndrome 21
otopalatodigital syndrome 49
opd syndrome, type 1 21
opd syndrome 1 43
opd syndrome 43
opd1 43
fpo 21


External Ids:

ICD10 via Orphanet26 Q87.0

Related Diseases for Oto-Palato-Digital Syndrome Type 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Oto-Palato-Digital Syndrome Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1rubinstein-taybi syndrome11.2
2oto-palato-digital syndrome type 210.5
3oto-palatal-digital syndrome10.5
4micro syndrome10.5
5rubinstein-taybi syndrome 210.4
6keloids10.3
7chromosome 16p deletion10.3
8otopalatodigital spectrum disorders10.2
9dandy-walker syndrome10.2
10char syndrome10.2
11mental retardation10.2
12rubinstein-taybi syndrome due to 16p13.3 microdeletion10.2
13boomerang dysplasia10.2
14atelosteogenesis10.2
15frontometaphyseal dysplasia10.2
16melnick-needles syndrome10.2
17congenital hypothyroidism10.1
18coloboma10.1
19hypoplastic left heart syndrome10.1
20slipped capital femoral epiphysis10.1
21crebbp-related rubinstein-taybi syndrome10.1
22ep300-related rubinstein-taybi syndrome10.1
23sleep apnea10.1
24omphalocele10.1
25smith-lemli-opitz syndrome10.0
26pituitary hypoplasia10.0
27kimura disease10.0
28pilomatrixoma10.0
29spondylolisthesis10.0
30familial mediterranean fever10.0
31tracheal stenosis10.0
32piebaldism10.0
33brachydactyly10.0
34west syndrome10.0
35eosinophilic esophagitis10.0
36polydactyly10.0
37meningoencephalitis10.0
38microcephaly10.0
39tethered spinal cord syndrome10.0
40juvenile glaucoma10.0
41protein s deficiency10.0
42eosinophilic gastritis10.0
43cleft palate10.0
44myositis ossificans10.0
45hypoglycemia10.0
46echolalia10.0
47hirschsprung's disease10.0
48churg-strauss syndrome10.0
49protein c deficiency10.0
50coffin-lowry syndrome10.0

Graphical network of the top 20 diseases related to Oto-Palato-Digital Syndrome Type 1:



Diseases related to oto-palato-digital syndrome type 1

Clinical Features for Oto-Palato-Digital Syndrome Type 1

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

311300,304120

Clinical synopsis from OMIM:

311300

Symptoms:

49 (show all 56)
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flattened nose
  • high nasal bridge
  • microstomia/little mouth
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • terminal/third phalangeal bone of fingers hypoplasia
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • x-linked dominant inheritance
  • x-linked recessive inheritance
  • prominent occiput/occipital bossing
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • flat face
  • prominent supraorbital ridge
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anodontia/oligodontia/hypodontia
  • hearing loss/hypoacusia/deafness
  • short rib cage/thorax
  • pectus excavatum
  • anomalies of the ribs
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • carpal bones fusion/synostosis
  • metacarpal anomalies/archibald's sign
  • thumb anomalies (excluding hypoplasia)
  • osteosclerosis/osteopetrosis/bone condensation
  • bowed diaphysis/diaphyses/long bones
  • elbow dislocation
  • short stature/dwarfism/nanism
  • hypoplastic mandibula/partial absence of the mandibula
  • anomalies of teeth and dentition
  • scoliosis
  • spina bifida occulta
  • abnormal vertebral size/shape
  • omphalocele/exomphalos
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • absent/small fingernails/anonychia of hands
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • stillbirth/neonatal death
  • broad nose/nasal bridge
  • short big toe
  • wide space between 1st-2nd toes
  • frontal sinus agenesis/anomaly
  • short hand/brachydactyly
  • thumb hypoplasia/aplasia/absence
  • proximally set thumb
  • anomalies of spine, vertebrae and pelvis
  • tarsal anomaly/fusion/synostosis

Drugs & Therapeutics for Oto-Palato-Digital Syndrome Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Oto-Palato-Digital Syndrome Type 1

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Oto-Palato-Digital Syndrome Type 1:

id Genetic test Affiliating Genes
1 Otopalatodigital Syndrome, Type I20 FLNA
2 Oto-palato-digital Syndrome, Type I22

Anatomical Context for Oto-Palato-Digital Syndrome Type 1

Sources:
33MalaCards
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MalaCards organs/tissues related to Oto-Palato-Digital Syndrome Type 1:

33
Heart, Kidney

Animal Models for Oto-Palato-Digital Syndrome Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Oto-Palato-Digital Syndrome Type 1

Genetic Variations for Oto-Palato-Digital Syndrome Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Oto-Palato-Digital Syndrome Type 1:

63
id Symbol AA change Variation SNP ID
1FLNAp.Pro207LeuVAR_015700rs28935469
2FLNAp.Leu172PheVAR_015714
3FLNAp.Arg196TrpVAR_015716
4FLNAp.Asp203TyrVAR_031308

Expression for genes affiliated with Oto-Palato-Digital Syndrome Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oto-Palato-Digital Syndrome Type 1

Search GEO for disease gene expression data for Oto-Palato-Digital Syndrome Type 1.

Pathways for genes affiliated with Oto-Palato-Digital Syndrome Type 1

Compounds for genes affiliated with Oto-Palato-Digital Syndrome Type 1

GO Terms for genes affiliated with Oto-Palato-Digital Syndrome Type 1

Products for genes affiliated with Oto-Palato-Digital Syndrome Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oto-Palato-Digital Syndrome Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet