MCID: OCL040
MIFTS: 23

Oculomaxillofacial Dysostosis

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Oculomaxillofacial Dysostosis

MalaCards integrated aliases for Oculomaxillofacial Dysostosis:

Name: Oculomaxillofacial Dysostosis 53 59 29 6 73
Oculomaxillofacial Dysplasia with Oblique Facial Clefts 53
Richieri Costa Gorlin Syndrome 53
Richieri-Costa-Gorlin Syndrome 59
Oblique Facial Clefts 53

Classifications:



External Ids:

Orphanet 59 ORPHA1794
MESH via Orphanet 45 C537736
UMLS via Orphanet 74 C1838348
ICD10 via Orphanet 34 Q75.1
UMLS 73 C1838348

Summaries for Oculomaxillofacial Dysostosis

MalaCards based summary : Oculomaxillofacial Dysostosis, also known as oculomaxillofacial dysplasia with oblique facial clefts, is related to facial clefting, oblique, 1. An important gene associated with Oculomaxillofacial Dysostosis is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include bone and eye, and related phenotypes are median cleft lip and abnormality of the dentition

Related Diseases for Oculomaxillofacial Dysostosis

Diseases related to Oculomaxillofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 facial clefting, oblique, 1 11.1

Symptoms & Phenotypes for Oculomaxillofacial Dysostosis

Human phenotypes related to Oculomaxillofacial Dysostosis:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 median cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0000161
2 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
3 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
4 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
8 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
9 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
10 facial cleft 59 32 frequent (33%) Frequent (79-30%) HP:0002006
11 abnormality of the humerus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003063
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
14 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
15 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
16 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
17 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
18 sparse or absent eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0200102
19 abnormality of the nose 59 Frequent (79-30%)
20 abnormality of the eyelid 59 Occasional (29-5%)
21 abnormality of the eyelashes 59 Frequent (79-30%)

Drugs & Therapeutics for Oculomaxillofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Oculomaxillofacial Dysostosis

Genetic Tests for Oculomaxillofacial Dysostosis

Genetic tests related to Oculomaxillofacial Dysostosis:

# Genetic test Affiliating Genes
1 Oculomaxillofacial Dysostosis 29 SPECC1L

Anatomical Context for Oculomaxillofacial Dysostosis

MalaCards organs/tissues related to Oculomaxillofacial Dysostosis:

41
Bone, Eye

Publications for Oculomaxillofacial Dysostosis

Articles related to Oculomaxillofacial Dysostosis:

# Title Authors Year
1
Oblique facial clefts in Johanson-Blizzard syndrome. ( 26989884 )
2016
2
Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis. ( 25357034 )
2014
3
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. ( 21703590 )
2011
4
[Skeleton reconstruction of oblique facial clefts using mandibular outer table]. ( 16011188 )
2005
5
Oblique facial clefting associated with unicoronal synostosis. ( 11358094 )
2001
6
Oblique facial clefts: a report of Tessier numbers 3, 4, 5, and 9 clefts. ( 8399272 )
1993
7
Translocation (1;22) in a child with bilateral oblique facial clefts. ( 3398011 )
1988

Variations for Oculomaxillofacial Dysostosis

ClinVar genetic disease variations for Oculomaxillofacial Dysostosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPECC1L NM_015330.4(SPECC1L): c.1244A> C (p.Gln415Pro) single nucleotide variant Pathogenic rs387907108 GRCh37 Chromosome 22, 24718192: 24718192
2 SPECC1L NM_015330.4(SPECC1L): c.1244A> C (p.Gln415Pro) single nucleotide variant Pathogenic rs387907108 GRCh38 Chromosome 22, 24322224: 24322224

Expression for Oculomaxillofacial Dysostosis

Search GEO for disease gene expression data for Oculomaxillofacial Dysostosis.

Pathways for Oculomaxillofacial Dysostosis

GO Terms for Oculomaxillofacial Dysostosis

Sources for Oculomaxillofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....