Details of Disease

General Information of Disease (ID: DISL8CE9)

Disease Name Otopalatodigital syndrome type 1
Synonyms
OPD syndrome; frontootopalatodigital osteodysplasia; otopalatodigital spectrum disorder; OPD1; OPD syndrome 1; oto-palato-digital syndrome type 1; OPD I syndrome; otopalatodigital syndrome, type 1; OPD 1 syndrome; otopalatodigital syndrome, type I, X-linked dominant; Taybi syndrome; otopalatodigital syndrome, type I
Definition
The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISS312C: Otopalatodigital syndrome
DISL8CE9: Otopalatodigital syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0010704
MESH ID
C536065
UMLS CUI
C0265251
OMIM ID
311300
MedGen ID
78542
Orphanet ID
90650
SNOMED CT ID
54036001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FLNA TTSTRZY Strong Biomarker [1]
FLNA TTSTRZY Definitive X-linked recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLNA OTYZ9JXM Definitive X-linked recessive [2]
OFD1 OTAZW5TK Definitive Biomarker [3]
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References

1 Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
2 A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. Am J Med Genet A. 2005 Feb 1;132A(4):386-90. doi: 10.1002/ajmg.a.30484.
3 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17.