OFC10
MCID: ORF028
MIFTS: 24

Orofacial Cleft 10 (OFC10)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 10

MalaCards integrated aliases for Orofacial Cleft 10:

Name: Orofacial Cleft 10 57 12 72 29 13 6
Ofc10 57 72
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 10 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 10 72
Nonsyndromic Cleft Lip with or Without Cleft Palate 10 12
Non-Syndromic Cleft Lip/palate 10 72
Non-Syndromic Orofacial Cleft 10 72
Orofacial Cleft, Type 10 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases

Miscellaneous:
based on a report of 1 patient


HPO:

31
orofacial cleft 10:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0080403
OMIM® 57 613705
OMIM Phenotypic Series 57 PS119530
MeSH 44 D002971
MedGen 41 C1866070
SNOMED-CT via HPO 68 304067009

Summaries for Orofacial Cleft 10

UniProtKB/Swiss-Prot : 72 Non-syndromic orofacial cleft 10: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 10, also known as ofc10, is related to orofacial cleft and cleft lip. An important gene associated with Orofacial Cleft 10 is SUMO1 (Small Ubiquitin Like Modifier 1), and among its related pathways/superpathways is Interferon gamma signaling. Related phenotypes are unilateral cleft lip and unilateral cleft palate

Disease Ontology : 12 An orofacial cleft that has material basis in mutation in the SUMO1 gene on chromosome 2q33.

More information from OMIM: 613705 PS119530

Related Diseases for Orofacial Cleft 10

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 9.7 SUMO1 IRF6
2 cleft lip 9.6 SUMO1 IRF6
3 tooth agenesis 9.6 SUMO1 IRF6
4 cleft palate, isolated 9.5 SUMO1 IRF6

Symptoms & Phenotypes for Orofacial Cleft 10

Human phenotypes related to Orofacial Cleft 10:

31
# Description HPO Frequency HPO Source Accession
1 unilateral cleft lip 31 HP:0100333
2 unilateral cleft palate 31 HP:0100334

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft lip, unilateral
cleft palate, unilateral

Laboratory Abnormalities:
karyotype 46,xx,t(2,8)(q33.1,q24.3)

Clinical features from OMIM®:

613705 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 10

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 10

Genetic Tests for Orofacial Cleft 10

Genetic tests related to Orofacial Cleft 10:

# Genetic test Affiliating Genes
1 Orofacial Cleft 10 29 SUMO1

Anatomical Context for Orofacial Cleft 10

Publications for Orofacial Cleft 10

Articles related to Orofacial Cleft 10:

# Title Authors PMID Year
1
SUMO1 haploinsufficiency leads to cleft lip and palate. 6 57
16990542 2006
2
Human genetic factors in nonsyndromic cleft lip and palate: an update. 61
17606301 2007

Variations for Orofacial Cleft 10

ClinVar genetic disease variations for Orofacial Cleft 10:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SUMO1 SUMO1, DEL Deletion Pathogenic 7629 GRCh37:
GRCh38:
2 SUMO1 NM_003352.8(SUMO1):c.*884A>G SNV Uncertain significance 333610 rs555380378 GRCh37: 2:203071092-203071092
GRCh38: 2:202206369-202206369
3 SUMO1 NM_003352.8(SUMO1):c.*475A>G SNV Uncertain significance 333613 rs754482827 GRCh37: 2:203071501-203071501
GRCh38: 2:202206778-202206778
4 SUMO1 NM_003352.8(SUMO1):c.*724A>G SNV Uncertain significance 333611 rs886055457 GRCh37: 2:203071252-203071252
GRCh38: 2:202206529-202206529
5 SUMO1 NM_003352.8(SUMO1):c.*545G>T SNV Uncertain significance 333612 rs747664973 GRCh37: 2:203071431-203071431
GRCh38: 2:202206708-202206708
6 SUMO1 NM_003352.8(SUMO1):c.*944G>C SNV Uncertain significance 333609 rs537401465 GRCh37: 2:203071032-203071032
GRCh38: 2:202206309-202206309
7 IRF6 NM_006147.4(IRF6):c.273A>T (p.Arg91Ser) SNV Uncertain significance 559487 rs1553248262 GRCh37: 1:209969799-209969799
GRCh38: 1:209796454-209796454
8 IRF6 NM_006147.4(IRF6):c.1175T>G (p.Val392Gly) SNV Uncertain significance 559496 rs1553247688 GRCh37: 1:209963016-209963016
GRCh38: 1:209789671-209789671
9 SUMO1 NM_003352.8(SUMO1):c.*814G>A SNV Uncertain significance 895351 GRCh37: 2:203071162-203071162
GRCh38: 2:202206439-202206439
10 SUMO1 NM_003352.8(SUMO1):c.*776A>T SNV Uncertain significance 895352 GRCh37: 2:203071200-203071200
GRCh38: 2:202206477-202206477
11 SUMO1 NM_003352.8(SUMO1):c.*753C>G SNV Uncertain significance 895353 GRCh37: 2:203071223-203071223
GRCh38: 2:202206500-202206500
12 SUMO1 NM_003352.8(SUMO1):c.88-8C>T SNV Uncertain significance 895354 GRCh37: 2:203079165-203079165
GRCh38: 2:202214442-202214442
13 SUMO1 NM_003352.8(SUMO1):c.-48C>T SNV Uncertain significance 896763 GRCh37: 2:203103222-203103222
GRCh38: 2:202238499-202238499
14 SUMO1 NM_003352.8(SUMO1):c.-83A>G SNV Uncertain significance 896764 GRCh37: 2:203103257-203103257
GRCh38: 2:202238534-202238534
15 IRF6 NM_006147.4(IRF6):c.514C>T (p.Pro172Ser) SNV Uncertain significance 559492 rs1553247899 GRCh37: 1:209965767-209965767
GRCh38: 1:209792422-209792422
16 IRF6 NM_006147.4(IRF6):c.595G>A (p.Glu199Lys) SNV Uncertain significance 559493 rs1553247888 GRCh37: 1:209965686-209965686
GRCh38: 1:209792341-209792341
17 SUMO1 NM_003352.8(SUMO1):c.*1038C>T SNV Uncertain significance 898330 GRCh37: 2:203070938-203070938
GRCh38: 2:202206215-202206215
18 SUMO1 NM_003352.8(SUMO1):c.-94G>A SNV Likely benign 896765 GRCh37: 2:203103268-203103268
GRCh38: 2:202238545-202238545
19 SUMO1 NM_003352.8(SUMO1):c.-32T>G SNV Likely benign 333615 rs182338962 GRCh37: 2:203103206-203103206
GRCh38: 2:202238483-202238483
20 IRF6 NM_006147.4(IRF6):c.362G>T (p.Gly121Val) SNV Benign 559488 rs1553248247 GRCh37: 1:209969710-209969710
GRCh38: 1:209796365-209796365
21 IRF6 NM_006147.4(IRF6):c.443A>G (p.Asp148Gly) SNV Benign 559489 rs1553248182 GRCh37: 1:209968700-209968700
GRCh38: 1:209795355-209795355
22 IRF6 NM_006147.4(IRF6):c.457T>G (p.Ser153Ala) SNV Benign 559490 rs1553248180 GRCh37: 1:209968686-209968686
GRCh38: 1:209795341-209795341
23 IRF6 NM_006147.4(IRF6):c.490C>G (p.Pro164Ala) SNV Benign 559491 rs1033149441 GRCh37: 1:209968653-209968653
GRCh38: 1:209795308-209795308
24 IRF6 NM_006147.4(IRF6):c.635G>A (p.Ser212Asn) SNV Benign 559494 rs1553247880 GRCh37: 1:209965646-209965646
GRCh38: 1:209792301-209792301
25 IRF6 NM_006147.4(IRF6):c.1173G>T (p.Leu391Phe) SNV Benign 559495 rs141653312 GRCh37: 1:209963018-209963018
GRCh38: 1:209789673-209789673

Expression for Orofacial Cleft 10

Search GEO for disease gene expression data for Orofacial Cleft 10.

Pathways for Orofacial Cleft 10

Pathways related to Orofacial Cleft 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 SUMO1 IRF6

GO Terms for Orofacial Cleft 10

Biological processes related to Orofacial Cleft 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 8.62 SUMO1 IRF6

Sources for Orofacial Cleft 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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