Details of Disease

General Information of Disease (ID: DISSWR9C)

Disease Name Oculodentodigital dysplasia
Synonyms
oculodentodigital syndrome; oculo-dento-digital syndrome; ODDD; Meyer-Schwickerath syndrome; odd syndrome; ODDD syndrome; oculodentoosseous dysplasia; oculo-dento-digital dysplasia; Oculo-Dento-Digital Dysplasia; oculodentodigital dysplasia
Definition Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISB52BH: Eye disorder
DISLRS4M: Ectodermal dysplasia
DIS5Z8U6: Skeletal dysplasia
DISSWR9C: Oculodentodigital dysplasia
Disease Identifiers
MONDO ID
MONDO_0008111
MESH ID
C563160
UMLS CUI
C0812437
OMIM ID
164200
MedGen ID
167236
Orphanet ID
2710
SNOMED CT ID
31291009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADRA1D TT34BHT Strong Genetic Variation [1]
PLIN1 TTIV27N Strong Genetic Variation [2]
GJA1 TT4F7SL Definitive Semidominant [3]
GJA1 TT4F7SL Definitive Genetic Variation [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SUFU OT0IRYG1 Disputed GermlineCausalMutation [5]
EYA4 OTINGR3Z Strong Altered Expression [6]
PTCH1 OTMG07H5 Strong GermlineCausalMutation [7]
PTCH2 OTOQ0K9V Strong GermlineCausalMutation [8]
GJA1 OTT94MKL Definitive Semidominant [3]
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References

1 Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.Am J Med Genet A. 2004 Jun 1;127A(2):152-7. doi: 10.1002/ajmg.a.20614.
2 Connexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence.Biomolecules. 2019 Sep 11;9(9):474. doi: 10.3390/biom9090474.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family.J Glaucoma. 2019 Apr;28(4):357-362. doi: 10.1097/IJG.0000000000001190.
5 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.
6 EYA4, a novel vertebrate gene related to Drosophila eyes absent.Hum Mol Genet. 1999 Jan;8(1):11-23. doi: 10.1093/hmg/8.1.11.
7 Nevoid basal cell carcinoma syndrome (Gorlin syndrome).Orphanet J Rare Dis. 2008 Nov 25;3:32. doi: 10.1186/1750-1172-3-32.
8 Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.Fam Cancer. 2013 Dec;12(4):611-4. doi: 10.1007/s10689-013-9623-1.