Details of Disease | DrugMAP

General Information of Disease (ID: DISHMBG5)

Disease Name	Otopalatodigital syndrome type 2
Synonyms	otopalatodigital syndrome, type 2; cranioorodigital syndrome; cranio-oro-digital syndrome; FPO; oto-palato-digital syndrome type 2; otopalatodigital syndrome, type II; Andre syndrome; faciopalatoosseous syndrome; OPD2; otopalatodigital syndrome, type II, X-linked dominant; OPD syndrome 2; OPD 2 syndrome; Otopalatodigital Syndrome Type I and II; OPD II syndrome
Definition	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.
Disease Hierarchy	DISS312C: Otopalatodigital syndrome DISHMBG5: Otopalatodigital syndrome type 2
Disease Identifiers	MONDO ID MONDO_0010571 MESH ID C538089 UMLS CUI C1844696 OMIM ID 304120 MedGen ID 337064 Orphanet ID 90652 SNOMED CT ID 42432003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FLNA	TTSTRZY	Definitive	X-linked	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLNA	OTYZ9JXM	Definitive	X-linked	[1]
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References

1	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.