OFC1
MCID: ORF048
MIFTS: 30

Orofacial Cleft 1 (OFC1)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 1

MalaCards integrated aliases for Orofacial Cleft 1:

Name: Orofacial Cleft 1 57 12 15 70
Orofacial Cleft-1 57 13
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 1 57
Nonsyndromic Cleft Lip with or Without Cleft Palate 1 12
Orofacial Cleft, Nonsyndromic; Ofc 57
Cleft Lip/palate, Nonsyndromic 57
Orofacial Cleft, Nonsyndromic 57
Nonsyndromic Cleft Lip Palate 6
Otofaciocervical Syndrome 1 70
Ofc1 57
Ofc 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)


HPO:

31
orofacial cleft 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0080395
OMIM® 57 119530
OMIM Phenotypic Series 57 PS119530
MedGen 41 C1861537
UMLS 70 C1861537 C3714941

Summaries for Orofacial Cleft 1

OMIM® : 57 Nonsyndromic cleft lip with or without cleft palate is a complex disease with a wide phenotypic spectrum ranging from notches of the vermilion and/or grooves in the philtrum to complete unilateral and bilateral clefts of the lip and palate (summary by Neiswanger et al., 2007). (119530) (Updated 05-Apr-2021)

MalaCards based summary : Orofacial Cleft 1, also known as orofacial cleft-1, is related to orofacial cleft and cleft lip. An important gene associated with Orofacial Cleft 1 is ACSS2 (Acyl-CoA Synthetase Short Chain Family Member 2). Affiliated tissues include brain, and related phenotypes are cleft palate and cleft upper lip

Disease Ontology : 12 An orofacial cleft characterized by autosomal dominant inheritance that has material basis in variation in chromosome region 6p24.3.

Related Diseases for Orofacial Cleft 1

Graphical network of the top 20 diseases related to Orofacial Cleft 1:



Diseases related to Orofacial Cleft 1

Symptoms & Phenotypes for Orofacial Cleft 1

Human phenotypes related to Orofacial Cleft 1:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 cleft upper lip 31 HP:0000204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
nonsyndromic cleft lip with or without cleft palate

Clinical features from OMIM®:

119530 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 1

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 1

Genetic Tests for Orofacial Cleft 1

Anatomical Context for Orofacial Cleft 1

MalaCards organs/tissues related to Orofacial Cleft 1:

40
Brain

Publications for Orofacial Cleft 1

Articles related to Orofacial Cleft 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. 6
27229527 2016
2
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 57
22863734 2012
3
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. 57
20087401 2010
4
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 57
20436469 2010
5
Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate. 57
19921634 2009
6
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. 57
19779022 2009
7
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. 57
18716610 2009
8
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. 57
18413325 2008
9
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. 57
17497721 2007
10
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA. 57
17337617 2007
11
Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. 57
17160896 2007
12
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. 57
16415175 2006
13
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. 57
16327884 2005
14
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. 57
15185170 2004
15
Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. 57
15054400 2004
16
Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families. 57
14755461 2004
17
Nonsyndromic cleft lip and palate: four chromosomal regions of interest. 57
14755463 2004
18
Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. 57
14755462 2004
19
Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. 57
15218257 2004
20
Multiplex relative risk and estimation of the number of loci underlying an inherited disease. 57
12454800 2002
21
Structural brain abnormalities in adult males with clefts of the lip and/or palate. 57
11839951 2002
22
Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. 57
11810291 2002
23
Analysis of the candidate genes responsible for non-syndromic cleft lip and palate in Japanese people. 57
10918043 2000
24
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. 57
10798365 2000
25
Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate. 57
9244439 1997
26
Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. 57
9108119 1997
27
Clinical and epidemiologic studies of cleft lip and palate in the Philippines. 57
9003905 1997
28
Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands. 57
8834050 1996
29
Face facts: genes, environment, and clefts. 57
7668246 1995
30
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. 57
7711723 1995
31
Cephalometric evidence for a dominantly inherited predisposition to cleft lip-cleft palate in a single large kindred. 57
8160754 1994
32
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A. 57
8099257 1993
33
Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus. 57
8488830 1993
34
Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. 57
1307687 1992
35
Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. 57
1642234 1992
36
Complex segregation analysis of nonsyndromic cleft lip and palate. 57
1882845 1991
37
Dominantly inherited cleft lip and palate. 57
2231656 1990
38
Linkage strategies for genetically complex traits. I. Multilocus models. 57
2301392 1990
39
Dominantly inherited cleft lip and palate in two families. 57
2738901 1989
40
An autosomal dominant mutation of facial development in a transgenic mouse. 57
3409558 1988
41
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. 57
2888553 1987
42
Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition. 57
3572999 1987
43
Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. 57
3788974 1986
44
Genetic analysis in families with van der Woude syndrome. 57
4019732 1985
45
A three generation family study of cleft lip with or without cleft palate. 57
7120312 1982
46
Genetic counseling in cleft lip and cleft palate. 57
7291357 1981
47
Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against genetic linkage. 57
6930992 1980
48
Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. 57
7395925 1980
49
Facial clefts in Danish twins. 57
282023 1979
50
Syndromes with cleft lip and cleft palate. 57
281275 1978

Variations for Orofacial Cleft 1

ClinVar genetic disease variations for Orofacial Cleft 1:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACSS2 NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala) SNV Pathogenic 617833 rs59088485 GRCh37: 20:33509608-33509608
GRCh38: 20:34921805-34921805
2 PHYH NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) SNV Likely pathogenic 617834 rs145404396 GRCh37: 10:13337497-13337497
GRCh38: 10:13295497-13295497
3 PHYH NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) Duplication Likely pathogenic 444210 rs566116760 GRCh37: 10:13320305-13320306
GRCh38: 10:13278305-13278306
4 PHYH NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) SNV Likely pathogenic 198539 rs62619919 GRCh37: 10:13325784-13325784
GRCh38: 10:13283784-13283784
5 HKDC1 NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) SNV Likely pathogenic 617835 rs201518882 GRCh37: 10:71007342-71007342
GRCh38: 10:69247586-69247586
6 HKDC1 NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter) SNV Likely pathogenic 617836 rs759709025 GRCh37: 10:71020980-71020980
GRCh38: 10:69261224-69261224
7 VWA8 NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu) SNV Likely pathogenic 617837 rs73464952 GRCh37: 13:42189142-42189142
GRCh38: 13:41615006-41615006
8 VWA8 NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter) SNV Likely pathogenic 617838 rs370112959 GRCh37: 13:42245135-42245135
GRCh38: 13:41670999-41670999
9 VWA8 NM_015058.2(VWA8):c.3676-7T>C SNV Likely pathogenic 617839 rs1566417012 GRCh37: 13:42266081-42266081
GRCh38: 13:41691945-41691945
10 VWA8 NM_015058.2(VWA8):c.2451G>A (p.Thr817=) SNV Likely pathogenic 617840 rs372532526 GRCh37: 13:42306267-42306267
GRCh38: 13:41732131-41732131
11 VWA8 NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) SNV Likely pathogenic 617841 rs138075452 GRCh37: 13:42385421-42385421
GRCh38: 13:41811285-41811285

Expression for Orofacial Cleft 1

Search GEO for disease gene expression data for Orofacial Cleft 1.

Pathways for Orofacial Cleft 1

GO Terms for Orofacial Cleft 1

Cellular components related to Orofacial Cleft 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.62 VWA8 PHYH

Sources for Orofacial Cleft 1

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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