Orofacial Cleft disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Orofacial Cleft

MalaCards integrated aliases for Orofacial Cleft:

Name: Orofacial Cleft ¹¹ ⁵ ¹⁴

Cleft, Orofacial ³⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0050567

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Summaries for Orofacial Cleft

Disease Ontology: ¹¹ A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.

MalaCards based summary: Orofacial Cleft, also known as cleft, orofacial, is related to orofacial cleft 10 and orofacial cleft 5. An important gene associated with Orofacial Cleft is LRP6 (LDL Receptor Related Protein 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Development of ureteric collection system. The drugs Difluocortolone and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, b lymphoblasts and bone, and related phenotypes are limbs/digits/tail and digestive/alimentary

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Related Diseases for Orofacial Cleft

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)

#	Related Disease	Score	Top Affiliating Genes
1	orofacial cleft 10	33.4	SUMO1 OFCC1 MSX1
2	orofacial cleft 5	33.3	OFCC1 MSX1
3	orofacial cleft 1	33.3	OFCC1 OFC1
4	orofacial cleft 4	33.3	TP63 SUMO1 OFC4
5	orofacial cleft 11	33.3	OFCC1 BMP4
6	orofacial cleft 15	33.2	OFCC1 DLX4
7	cleft palate, isolated	33.2	TP63 SUMO1 PRODH OFC1 NECTIN1 MSX1
8	cleft lip	33.1	TP63 SUMO1 OFC3 OFC1 NECTIN1 MSX1
9	cleft lip with or without cleft palate	32.6	OFC1 NECTIN1 MSX1 GDF11
10	cleft lip/palate	32.0	TP63 NECTIN1 MSX1 IRF6 DLX4 BMP4
11	orofacial clefting syndrome	31.3	LRP6 GDF11 FST
12	tooth agenesis	31.3	TP63 SUMO1 NECTIN1 MSX1 LRP6 IRF6
13	isolated cleft lip	31.2	TP63 NECTIN1 MSX1 IRF6
14	van der woude syndrome	31.2	TP63 NECTIN1 MSX1 IRF6 BMP4
15	cleft lip and alveolus	30.9	TP63 NECTIN1 MSX1 IRF6
16	ankyloglossia with or without tooth anomalies	30.6	TP63 MSX1 IRF6
17	atrial heart septal defect	30.4	PRODH MSX1 BMP4
18	orofacial cleft 6	11.7
19	cleft lip/palate-ectodermal dysplasia syndrome	11.7
20	orofacial cleft 8	11.7
21	orofacial cleft 2	11.6
22	orofacial cleft 3	11.6
23	orofacial cleft 9	11.6
24	orofacial cleft 12	11.6
25	tooth agenesis, selective, 1	11.6
26	orofacial cleft 13	11.5
27	orofacial cleft 14	11.5
28	microphthalmia, syndromic 6	11.3
29	otofaciocervical syndrome 1	11.2
30	otofaciocervical syndrome 2, with t-cell deficiency	11.1
31	rapp-hodgkin syndrome	11.1
32	facial clefting, oblique, 1	11.0
33	chromosome 2q35 duplication syndrome	10.6	TP63 NECTIN1 MSX1 LRP6 IRF6 BMP4
34	ectodermal dysplasia 1, hypohidrotic, x-linked	10.6	TP63 NECTIN1 MSX1 BMP4
35	branchiooculofacial syndrome	10.6	OFCC1 MSX1 IRF6 BMP4
36	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	10.6	TP63 NECTIN1 MSX1 BMP4
37	physical disorder	10.6	PRODH MSX1 IRF6 BMP4
38	syngnathia	10.5	MSX1 IRF6 BMP4
39	popliteal pterygium syndrome	10.5	NECTIN1 MSX1 IRF6
40	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	10.5	TP63 NECTIN1 IRF6
41	chromosome 10q23 deletion syndrome	10.5	MSX1 BMP4
42	fissured tongue	10.5	TP63 IRF6
43	ectodermal dysplasia 13, hair/tooth type	10.5	MSX1 LRP6
44	anodontia	10.4	MSX1 LRP6
45	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	10.4	MSX1 IRF6
46	ankyloblepharon-ectodermal defects-cleft lip/palate	10.3	TP63 IRF6
47	clouston syndrome	10.2	TP63 NECTIN1
48	dental caries	10.2
49	hypertelorism	10.0
50	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.0

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

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Symptoms & Phenotypes for Orofacial Cleft

MGI Mouse Phenotypes related to Orofacial Cleft:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.8	BMP4 GDF11 IRF6 LRP6 MSX1 PRODH
2	digestive/alimentary	MP:0005381	9.76	BMP4 FST GDF11 IRF6 LRP6 MSX1
3	craniofacial	MP:0005382	9.65	BMP4 FST GDF11 IRF6 LRP6 MSX1
4	skeleton	MP:0005390	9.28	BMP4 FST GDF11 IRF6 LRP6 MSX1

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Drugs & Therapeutics for Orofacial Cleft

Drugs for Orofacial Cleft (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Difluocortolone

Approved, Investigational, Withdrawn

2607-06-9

14445457 11954369

2

Levoleucovorin

Approved, Experimental, Investigational

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Synonyms:

(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate

(6R)-Leucovorin

(6R,2'S)-Folinic acid

(6R,S)-5-Formyltetrahydrofolate

(6S)-5-Formyl-5,6,7,8-tetrahydrofolate

(6S)-5-FORMYL-5,6,7,8-TETRAHYDROFOLIC ACID

(6S)-5-Formyltetrahydrofolate

(6S)-5-FORMYLTETRAHYDROFOLIC ACID

(6S)-Folinate

(6S)-FOLINIC ACID

(6S)-LEUCOVORIN

(S)-LEUCOVORIN

[6R]-5-formyl-5,6,7,8-tetrahydrofolate

10-Formyl-7,8-dihydrofolate

10-Formyl-7,8-dihydrofolic acid

5 Formyltetrahydrofolate

5 Formyltetrahydropteroylglutamate

5-Formlyl-5,6,7,8-tetrahydrofolate,calcium salt

5-Formyl-(6S)-tetrahydrofolic acid

5-Formyl-5,6,7,8-tetrahydrofolate

5-Formyl-5,6,7,8-tetrahydrofolic acid

5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid

5-Formyltetrahydrofolate

5-Formyltetrahydrofolic acid

5-Formyltetrahydropteroylglutamate

5-Formyltetrahydropteroylglutamic acid

5-formylTHF

6 S Leucovorin

6R-Leucovorin

6S Leucovorin

6S-Leucovorin

6-S-Leucovorin

Acid, folinic

Acide folinique

Acido folinico

ácido levofolínico

Calcium citrovorum factor

Calcium folinate

Calcium leucovorin

CF

Citrovorum factor

Dextrofolinic acid

Factor, citrovorum

Folinate

Folinate, calcium

Folinic acid

Folinic acid calcium salt

Folinic acid calcium salt USP27

Folinic acid SF

Folinic acid-SF

FUSILEV

KHAPZORY

Kunyrin

L(-)-5-Formyl-5,6,7,8-tetrahydrofolate

L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid

Leucal

Leucoverin

Leucovorin

Leucovorin calcium

Leucovorin folinic acid

Leucovorin, (D)-isomer

Leucovorin, (DL)-isomer

Leucovorin, (R)-isomer

Leucovorin, (S)-isomer

Leucovorin, calcium

Leucovorin, calcium (1:1) salt

Leucovorin, calcium (1:1) salt, (DL)-isomer

Leucovorin, calcium (1:1) salt, (S)-isomer

Leucovorin, calcium (1:1) salt, pentahydrate

Leucovorin, monopotassium salt, (S)-isomer

Leucovorin, monosodium salt

Leucovorin, monosodium salt, (S)-isomer

Leucovorinum

Leukovorin

Leukovorum

Levo leucovorin

LEVOFOLENE

Levofolinate

LEVOFOLINIC ACID

Levoleucovorin

Levo-leucovorin

L-Folinate

L-FOLINIC ACID

LFP-754

L-Leucovorin

L-N-[P-[[(2-amino-5-Formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-glutamic acid

Monosodium salt leucovorin

N(5)-Formyltetrahydrofolate

N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid

N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamate

N-[4-({[(6S)-2-AMINO-5-FORMYL-4-OXO-1,4,5,6,7,8-HEXAHYDROPTERIDIN-6-YL]METHYL}AMINO)BENZOYL]-L-GLUTAMIC ACID

N-{[4-({[(6R)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)phenyl]carbonyl}-L-glutamic acid

N5-Formyl-5,6,7,8-tetrahydrofolate

N5-Formyl-5,6,7,8-tetrahydrofolic acid

N5-Formyltetrahydrofolate

N5-Formyltetrahydrofolic acid

N5-Formyl-THF

Pteroyl-D-glutamate

Rescuvolin

S Leucovorin

S-Leucovorin

Welcovorin

Wellcovorin

3

Folic acid

Approved, Nutraceutical, Vet_approved

59-30-3

6037

4

Diflucortolone valerate

3058

5

Hormones

6

Hormone Antagonists

7

glucocorticoids

8

Anti-Inflammatory Agents

9

Folate

10

Vitamin B9

11

Vitamin B Complex

Interventional clinical trials:

#	Name	Status	NCT ID	Drugs
1	Three-dimensional Development of the Palate in Bilateral Orofacial Cleft Newborns One Year After Early Neonatal Cheiloplasty: Classic and Geometric Morphometric Evaluation	Unknown status	NCT03839290
2	Risk Association of Orofacial Cleft and Glucocorticoids Exposure During Pregnancy: a Meta-analysis	Completed	NCT03788863	Diflucortolone valerate (BAY866146)
3	Neural Network to Calculate Morphology of the Cleft Palate to Reduce Cleft Lip and Palate Treatment Burden.	Recruiting	NCT04342234
4	Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC	Recruiting	NCT03065686
5	Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population	Terminated	NCT00341068

Search NIH Clinical Center for Orofacial Cleft

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Genetic Tests for Orofacial Cleft

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Anatomical Context for Orofacial Cleft

Organs/tissues related to Orofacial Cleft:

MalaCards : Whole Blood, B Lymphoblasts, Bone, Heart, Pituitary, Kidney

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Publications for Orofacial Cleft

Articles related to Orofacial Cleft:

(show top 50) (show all 464)

#	Title	Authors	PMID	Year
1	Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. ⁵	Cox TC...Roscioli T	31215115	2019
2	Do Orofacial Clefts Impair Breastfeeding and Increase the Prevalence of Anemia? ⁶²	Miranda-Filho AEF...Marques NCT	34755566	2023
3	Six-year Burden of Care for Nonsyndromic Unilateral Cleft Lip and Palate Patients: A Comparison Between Cleft Centers and Noncleft Centers. ⁶²	Janssen PL...Dagum AB	34786981	2023
4	Speech Outcomes of a National Cohort of Children with Orofacial Cleft at 5 and 10 Years of age. ⁶²	Morrison MM...Thompson JMD	34672811	2022
5	Investigation of exposure to heavy metals (Hg, Pb, Cd, Co, and Cr) as the cause of congenital anomaly cases (orofacial cleft) in infants. ⁶²	Oginawati K...Fahimah N	35748989	2022
6	Inhibition of the 3-hydroxy-3-methyl-glutaryl-CoA reductase diminishes the survival and size of chondrocytes during orofacial morphogenesis in zebrafish. ⁶²	Signore IA...Colombo A	36320166	2022
7	Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis. ⁶²	Purohit MR...Hussain SA	34904448	2022
8	A Narrative Review on Non-Invasive Diagnostic Tools for the Analysis of Dental Arches in Orofacial Cleft Patients. ⁶²	Jorge PK...Soares S	36291469	2022
9	Limited Access to Alveolar Bone Graft Surgery Following Primary Cleft Lip and Palate Repair in Indonesia: A Questionnaire-Based Qualitative Study. ⁶²	Bangun K...Atmodiwirjo P	36217224	2022
10	A392V and R945X mutations cause orofacial clefts via impairing PTCH1 function. ⁶²	He Q...Zhao H	36265746	2022
11	Maternal Stressful Life Events During the Periconceptional Period and Orofacial Clefts: A Systematic Review and Meta-Analysis. ⁶²	Tran C...Sharp G	35014881	2022
12	Correlation of Dental Anomalies with Cleft Type and Gender in Non-Syndromic Oral Cleft Patients: A Cross-Sectional Study. ⁶²	Papaefthymiou Dds P...Yilmaz Dds PhD HN	36121923	2022
13	Null Association Between Isolated Orofacial Clefts and Sleep Duration: A Cohort Study From the Japan Environment and Children's Study. ⁶²	Sato Y...Japan Environment and Children's Study (JECS) Group	36163681	2022
14	Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis. ⁶²	Fell M...Lewis S	34569861	2022
15	The usefulness of cone beam computed tomography according to age in cleft lip and palate. ⁶²	Dinu C...Baciu? M	36415532	2022
16	Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong. ⁶²	Li YY...Cao Y	36128746	2022
17	The Periodontal Status of Orofacial Cleft Patients: A Systematic Review and Meta-Analysis. ⁶²	Sahni V...Jain A	36130097	2022
18	Body Dysmorphic Disorder in Adult Patients With an Orofacial Cleft: An Unseen Psychological Burden. ⁶²	Stepp WH...Drake AF	36054769	2022
19	Care Barriers for Patients With Nonsyndromic Orofacial Clefts in Saudi Arabia: A Cross-Sectional Study. ⁶²	Allaf H...Sabbagh H	34189936	2022
20	Chromatin conformation of human oral epithelium can identify orofacial cleft missing functional variants. ⁶²	Xiao Y...Liu H	36008388	2022
21	Prenatal Diagnosis of Cleft and Craniofacial Conditions: An International Analysis of Practice Patterns. ⁶²	Morales CZ...Swanson J	35758434	2022
22	Feasibility of Social Media Recruitment for Orofacial Cleft Genetic Research. ⁶²	Carlock G...Leslie EJ	34121473	2022
23	The Evaluation of FGFR1, FGFR2 and FOXO1 in Orofacial Cleft Tissue. ⁶²	Goida J...Pilmane M	35455561	2022
24	Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes. ⁶²	Mukhopadhyay N...Marazita ML	35191549	2022
25	Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus. ⁶²	Awotoye W...Butali A	34689653	2022
26	Analysis of Environmental Exposures for Nonsyndromic Cleft Lip and/or Palate: A Case-Control Study. ⁶²	Ahmed Sakran K...He D	35865051	2022
27	Mutations in Van Der Woude Families From Ethiopia. ⁶²	Eshete M...Butali A	34643600	2022
28	Seasonal Variation of Nonsyndromic Orofacial Clefts in Northern Chinese Population. ⁶²	Hao Y...Jiao X	34538782	2022
29	Subphenotypes in Non-Syndromic Orofacial Cleft Patients Based on the Tooth Agenesis Code (TAC). ⁶²	Konstantonis D...Vastardis H	35327809	2022
30	Childhood Experiences and Perspectives of Individuals With Orofacial Clefts: A Qualitative Systematic Review. ⁶²	Jensen ED...Jamieson LM	35254151	2022
31	Cleft Care in a Developing Country: An Assessment of Knowledge and Attitudes of Patients/Parents of Children With an Orofacial Cleft to Orthodontic Treatment. ⁶²	daCosta OO...Ogbonna CM	33715465	2022
32	Advances in research regarding the roles of non-coding RNAs in non-syndromic cleft lip with or without cleft palate: A systematic review. ⁶²	Wei Y...Pan Y	34864430	2022
33	Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models. ⁶²	Jaruga A...Tylzanowski P	35055138	2022
34	E-liquids and vanillin flavoring disrupts retinoic acid signaling and causes craniofacial defects in Xenopus embryos. ⁶²	Dickinson AJG...Howton DA	34543654	2022
35	Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis. ⁶²	Lan Y...Jiang R	35461563	2022
36	Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney. ⁶²	Biwei H...Weiwei C	36386837	2022
37	Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis. ⁶²	Slavec L...Gersak K	35075162	2022
38	Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk. ⁶²	Carlson JC...Leslie EJ	35223824	2022
39	Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study. ⁶²	Fashina A...Butali A	35990505	2022
40	Correlation between burden and sleep quality in informal caregivers of infants with orofacial cleft. ⁶²	Batista NT...Trettene ADS	36383793	2022
41	Managing Bilateral Oro-Sino-Orbital Fistulae in the Setting of Bilateral Tessier IV Clefts. ⁶²	Pontell ME...Golinko MS	34320573	2022
42	Prevalence of malnutrition among children at primary cleft surgery: A cross-sectional analysis of a global database. ⁶²	Delage B...Sheeran P	35265326	2022
43	Consistent downregulation of the cleft lip/palate-associated genes IRF6 and GRHL3 in carcinomas. ⁶²	Parisi L...Degen M	36457487	2022
44	Long-term treatment outcomes from the perspective of a patient with unilateral cleft lip and palate. ⁶²	Fowler P...Snape L	34969802	2021
45	Assessment of dental anxiety using modified dental anxiety scale among adults with cleft lip and/or palate. ⁶²	Aljohani M...Yates J	34938052	2021
46	Birth prevalence of orofacial cleft in a tertiary hospital in Riyadh, Saudi Arabia: A retrospective audit. ⁶²	AlHayyan WA...AlGhanim SA	34938037	2021
47	Association between variants around IRF6 and non-syndromic orofacial cleft in Western Han Chinese. ⁶²	Zhang S...Jia Z	34894020	2021
48	A Challenging Period After Repair: Etiology and Follow-Up Rates of the Patients With Cleft Lip and Palate in Intensive Care Unit. ⁶²	Kara M...Ozgur F	34231508	2021
49	Seasonal Influence on the Numbers of Gender-Related Orofacial Cleft Conceptions in the Netherlands. ⁶²	van der Lek LM...Moues-Vink CM	33467910	2021
50	A spatial analysis of birth defects in Texas, 1999-2011. ⁶²	Tang IW...Vieira VM	34240569	2021

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Genes for Orofacial Cleft

Genes related to Orofacial Cleft (9 elite genes):

(show top 50) (show all 176)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LRP6	LDL Receptor Related Protein 6	Protein Coding	405.44	Pathogenic ⁵ DISEASES inferred ¹⁴
2	OFC1	Orofacial Cleft 1	Genetic Locus	67.43	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
3	OFC2	Orofacial Cleft 2	Genetic Locus	67.07	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
4	OFC12	Orofacial Cleft 12	Genetic Locus	58.31	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
5	OFC13	Orofacial Cleft 13	Genetic Locus	58.31	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
6	OFC14	Orofacial Cleft 14	Genetic Locus	58.31	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
7	OFC3	Orofacial Cleft 3	Genetic Locus	58.31	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
8	OFC4	Orofacial Cleft 4	Genetic Locus	58.31	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
9	OFC9	Orofacial Cleft 9	Genetic Locus	58.31	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
10	IRF6	Interferon Regulatory Factor 6	Protein Coding	35.31	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
11	OFCC1	Orofacial Cleft 1 Candidate 1 (Pseudogene)	RNA Gene	32.84	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Gene name Proteins (show sections)
12	GDF11	Growth Differentiation Factor 11	Protein Coding	30.09	Likely pathogenic ⁵ DISEASES inferred ¹⁴	31215115
13	FST	Follistatin	Protein Coding	30.05	Likely pathogenic ⁵ DISEASES inferred ¹⁴	31215115
14	BMP4	Bone Morphogenetic Protein 4	Protein Coding	24.49	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
15	TP63	Tumor Protein P63	Protein Coding	24.13	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
16	SUMO1	Small Ubiquitin Like Modifier 1	Protein Coding	21.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
17	MSX1	Msh Homeobox 1	Protein Coding	16.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
18	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	14.68	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
19	DLX4	Distal-Less Homeobox 4	Protein Coding	12.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
20	PRODH	Proline Dehydrogenase 1	Protein Coding	10	DISEASES inferred ¹⁴ ¹⁴
21	DGCR5	DiGeorge Syndrome Critical Region Gene 5	RNA Gene	9.94	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
22	H2AC18	H2A Clustered Histone 18	Protein Coding	9.65	DISEASES inferred ¹⁴ ¹⁴
23	MIR140	MicroRNA 140	RNA Gene	8.98	DISEASES inferred ¹⁴ ¹⁴
24	TBX22	T-Box Transcription Factor 22	Protein Coding	8.08	DISEASES inferred ¹⁴
25	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	8.03	DISEASES inferred ¹⁴
26	PAX9	Paired Box 9	Protein Coding	7.84	DISEASES inferred ¹⁴
27	FGF8	Fibroblast Growth Factor 8	Protein Coding	7.76	DISEASES inferred ¹⁴
28	VAX1	Ventral Anterior Homeobox 1	Protein Coding	7.68	DISEASES inferred ¹⁴
29	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	7.66	DISEASES inferred ¹⁴
30	FOXE1	Forkhead Box E1	Protein Coding	7.65	DISEASES inferred ¹⁴
31	NHLH1	Nescient Helix-Loop-Helix 1	Protein Coding	7.6	DISEASES inferred ¹⁴
32	OSR2	Odd-Skipped Related Transciption Factor 2	Protein Coding	7.47	DISEASES inferred ¹⁴
33	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	7.44	DISEASES inferred ¹⁴
34	GRHL3	Grainyhead Like Transcription Factor 3	Protein Coding	7.35	DISEASES inferred ¹⁴
35	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	7.33	DISEASES inferred ¹⁴
36	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	7.19	DISEASES inferred ¹⁴
37	MIR449C	MicroRNA 449c	RNA Gene	7.17	DISEASES inferred ¹⁴ ¹⁴
38	CLPTM1L	CLPTM1 Like	Protein Coding	7.13	DISEASES inferred ¹⁴
39	SATB2	SATB Homeobox 2	Protein Coding	7.09	DISEASES inferred ¹⁴
40	FGF10	Fibroblast Growth Factor 10	Protein Coding	7.04	DISEASES inferred ¹⁴
41	TBX1	T-Box Transcription Factor 1	Protein Coding	7.03	DISEASES inferred ¹⁴
42	MSX2	Msh Homeobox 2	Protein Coding	7.03	DISEASES inferred ¹⁴
43	ARHGAP29	Rho GTPase Activating Protein 29	Protein Coding	6.99	DISEASES inferred ¹⁴
44	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	6.99	DISEASES inferred ¹⁴
45	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	6.96	DISEASES inferred ¹⁴
46	DLX5	Distal-Less Homeobox 5	Protein Coding	6.96	DISEASES inferred ¹⁴
47	SOX9	SRY-Box Transcription Factor 9	Protein Coding	6.94	DISEASES inferred ¹⁴
48	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	6.93	DISEASES inferred ¹⁴
49	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	6.92	DISEASES inferred ¹⁴ ¹⁴
50	LHX8	LIM Homeobox 8	Protein Coding	6.91	DISEASES inferred ¹⁴

Sources

Variations for Orofacial Cleft

ClinVar genetic disease variations for Orofacial Cleft:

⁵ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LRP6	NM_002336.3(LRP6):c.4593del (p.Cys1532fs)	DEL	Pathogenic	225147	rs869320635	GRCh37: 12:12274309-12274309 GRCh38: 12:12121375-12121375
2	GDF11	NM_005811.5(GDF11):c.893G>A (p.Arg298Gln)	SNV	Likely Pathogenic	982234	rs1878258280	GRCh37: 12:56143335-56143335 GRCh38: 12:55749551-55749551
3	FST	NM_013409.3(FST):c.167G>A (p.Cys56Tyr)	SNV	Likely Pathogenic	982235	rs1747328996	GRCh37: 5:52778791-52778791 GRCh38: 5:53482961-53482961
4	LRP6	NM_002336.3(LRP6):c.1620G>T (p.Leu540Phe)	SNV	Uncertain Significance	225155	rs869320642	GRCh37: 12:12318155-12318155 GRCh38: 12:12165221-12165221
5	LRP6	NM_002336.3(LRP6):c.3365A>C (p.Asp1122Ala)	SNV	Uncertain Significance	225158	rs869320645	GRCh37: 12:12300332-12300332 GRCh38: 12:12147398-12147398
6	LRP6	NM_002336.3(LRP6):c.2058C>G (p.Ile686Met)	SNV	Uncertain Significance	225156	rs869320643	GRCh37: 12:12315348-12315348 GRCh38: 12:12162414-12162414
7	LRP6	NM_002336.3(LRP6):c.4136G>A (p.Gly1379Asp)	SNV	Uncertain Significance	225159	rs869320646	GRCh37: 12:12279801-12279801 GRCh38: 12:12126867-12126867
8	LRP6	NM_002336.3(LRP6):c.2995G>C (p.Gly999Arg)	SNV	Uncertain Significance	225157	rs869320644	GRCh37: 12:12302087-12302087 GRCh38: 12:12149153-12149153
9	LRP6	NM_002336.3(LRP6):c.4298C>T (p.Ser1433Leu)	SNV	Uncertain Significance	225160	rs869320647	GRCh37: 12:12279639-12279639 GRCh38: 12:12126705-12126705
10	LRP6	NM_002336.3(LRP6):c.1004G>T (p.Arg335Leu)	SNV	Uncertain Significance	225154	rs869320641	GRCh37: 12:12334346-12334346 GRCh38: 12:12181412-12181412
11	BMP4	NM_001202.6(BMP4):c.148_149insAAT	INSERT	Uncertain Significance	313342	rs796563569	GRCh37: 14:54416601-54416602 GRCh38: 14:53949883-53949884
12	BMP4	NM_001202.6(BMP4):c.148_149del	DEL	Uncertain Significance	313338	rs140085940	GRCh37: 14:54416601-54416602 GRCh38: 14:53949883-53949884
13	BMP4	NM_001202.6(BMP4):c.148_149insAT	INSERT	Uncertain Significance	313339	rs796563569	GRCh37: 14:54416601-54416602 GRCh38: 14:53949883-53949884
14	BMP4	NM_001202.6(BMP4):c.215A>G (p.Gln72Arg)	SNV	Uncertain Significance	313354	rs771047931	GRCh37: 14:54418726-54418726 GRCh38: 14:53952008-53952008
15	BMP4	NM_001202.6(BMP4):c.*150del	DEL	Uncertain Significance	313337	rs878985651	GRCh37: 14:54416600-54416600 GRCh38: 14:53949882-53949882
16	BMP4	NM_001202.6(BMP4):c.145_149del	DEL	Uncertain Significance	313340	rs886050539	GRCh37: 14:54416601-54416605 GRCh38: 14:53949883-53949887
17	BMP4	NM_001202.6(BMP4):c.148_149insT	INSERT	Uncertain Significance	313341	rs796563569	GRCh37: 14:54416601-54416602 GRCh38: 14:53949883-53949884
18	BMP4	NM_001202.6(BMP4):c.*149G>A	SNV	Uncertain Significance	313345	rs74495140	GRCh37: 14:54416601-54416601 GRCh38: 14:53949883-53949883
19	BMP4	NM_001202.6(BMP4):c.148_149insAG	INSERT	Uncertain Significance	313343	rs796563569	GRCh37: 14:54416601-54416602 GRCh38: 14:53949883-53949884
20	BMP4	NM_001202.6(BMP4):c.146_148dup	DUP	Uncertain Significance	313344	rs1555339771	GRCh37: 14:54416601-54416602 GRCh38: 14:53949883-53949884
21	BMP4	NM_001202.6(BMP4):c.370+12C>T	SNV	Uncertain Significance	313351	rs368426865	GRCh37: 14:54418559-54418559 GRCh38: 14:53951841-53951841
22	BMP4	NM_001202.6(BMP4):c.*251C>T	SNV	Uncertain Significance	313336	rs573118445	GRCh37: 14:54416499-54416499 GRCh38: 14:53949781-53949781
23	CDH1	NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)	SNV	Likely Benign	127933	rs139866691	GRCh37: 16:68772239-68772239 GRCh38: 16:68738336-68738336

Sources

Expression for Orofacial Cleft

Search GEO for disease gene expression data for Orofacial Cleft.

Sources

Pathways for Orofacial Cleft

Pathways directly related to Orofacial Cleft:

#	Pathway	Source
1	Defective B3GALTL causes PpS	Reactome ⁶⁶

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

#	Super pathways	Score	Top Affiliating Genes
1	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.38	TP63 MSX1 IRF6 BMP4
2	Development of ureteric collection system ⁷⁴	10.99	GDF11 FST BMP4
3	Hair follicle development: cytodifferentiation - part 3 of 3 ⁷⁴	10.66	TP63 MSX1 FST BMP4
4	Hypothetical craniofacial development pathway ⁷⁴ Show member pathways p63 transcription factor network ⁶¹	10.21	TP63 IRF6

Sources

GO Terms for Orofacial Cleft

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	10.02	TP63 GDF11 FST BMP4
2	BMP signaling pathway	GO:0030509	9.95	MSX1 FST BMP4
3	cranial skeletal system development	GO:1904888	9.84	TP63 IRF6
4	BMP signaling pathway involved in heart development	GO:0061312	9.8	MSX1 BMP4
5	embryonic hindlimb morphogenesis	GO:0035116	9.8	TP63 MSX1 BMP4
6	ameloblast differentiation	GO:0036305	9.73	FST BMP4
7	keratinocyte proliferation	GO:0043616	9.73	TP63 IRF6 FST
8	prostatic bud formation	GO:0060513	9.71	TP63 BMP4
9	epithelial to mesenchymal transition involved in endocardial cushion formation	GO:0003198	9.69	MSX1 BMP4
10	cloacal septation	GO:0060197	9.67	BMP4 TP63
11	embryonic limb morphogenesis	GO:0030326	9.63	TP63 MSX1 BMP4
12	roof of mouth development	GO:0060021	9.56	SUMO1 MSX1 IRF6 GDF11
13	anatomical structure formation involved in morphogenesis	GO:0048646	9.52	TP63 BMP4
14	camera-type eye morphogenesis	GO:0048593	9.46	NECTIN1 GDF11 BMP4
15	odontogenesis of dentin-containing tooth	GO:0042475	9.23	TP63 MSX1 FST BMP4

Sources

Sources for Orofacial Cleft

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ORF002 MIFTS: 42	Orofacial Cleft Categories: Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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