Details of Disease | DrugMAP

General Information of Disease (ID: DISWHOML)

Disease Name	Orofaciodigital syndrome IV
Synonyms	Ofd syndrome with tibial defects; oral facial digital syndrome 4; Ofds 4; orofaciodigital syndrome 4; Ofd syndrome, Baraitser-Burn type; oral-Facial-digital syndrome, type 4; orofaciodigital syndrome with tibial dysplasia; OFD syndrome 4; oral facial digital syndrome type 4; OFD4; oral-facial-digital syndrome type 4; orofaciodigital syndrome IV; Baraitser-Burn syndrome; orofaciodigital syndrome type IV; Mohr-Majewski syndrome; orofaciodigital syndrome type 4
Definition	Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
Disease Hierarchy	DISSB296: Orofaciodigital syndrome DISRBNBF: Short rib dysplasia DISH7BRI: Thoracic malformation DISWHOML: Orofaciodigital syndrome IV
Disease Identifiers	MONDO ID MONDO_0009794 MESH ID C537133 UMLS CUI C0406727 OMIM ID 258860 MedGen ID 98358 Orphanet ID 2753 SNOMED CT ID 239031000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TCTN3	OTZSHERV	Definitive	Autosomal recessive	[1]
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References

1	TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.