Details of Disease

General Information of Disease (ID: DIS4O7OQ)

Disease Name Orofaciodigital syndrome type II
Synonyms
orofaciodigital syndrome 2; orofaciodigital syndrome II; oral facial digital syndrome type 2; Ofds 2; oral-Facial-digital syndrome, type 2; orofaciodigital syndrome type 2; OFD syndrome 2; oral facial digital syndrome 2; OFD2; oral-facial-digital syndrome type 2; MOHR syndrome; Mohr syndrome
Definition Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
Disease Hierarchy
DISSB296: Orofaciodigital syndrome
DISRBNBF: Short rib dysplasia
DIS4O7OQ: Orofaciodigital syndrome type II
Disease Identifiers
MONDO ID
MONDO_0009642
MESH ID
D009958
UMLS CUI
C0026363
OMIM ID
252100
MedGen ID
10077
Orphanet ID
2751
SNOMED CT ID
1779005

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
NEK1 TTO5QT2 Supportive Autosomal recessive [1]
NEK1 TTO5QT2 Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEK1 OTBUCUW6 Supportive Autosomal recessive [1]
C2CD3 OTC52E7V Strong Biomarker [3]
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References

1 Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17.
2 NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin.Sci Rep. 2017 Jul 14;7(1):5445. doi: 10.1038/s41598-017-05325-w.
3 The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014 Aug;46(8):905-11. doi: 10.1038/ng.3031. Epub 2014 Jul 6.