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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Craniofacial Dysostosis (D003394)
..Starting node ..Mandibulofacial Dysostosis (D008342)
Child Nodes:
........Acrofacial dysostosis Catania form (C538182)
........Acrofacial dysostosis Rodriguez type (C538183)
........Acrofacial dysostosis, Nager type (C538184)
........Acrofacial dysostosis, Palagonia type (C538185)
........Acrofrontofacionasal dysostosis syndrome (C538186)
........Acromelic Frontonasal Dysostosis (C566345)
........Branchial arch syndrome X-linked (C537102)
........Fara Chlupackova syndrome (C537074)
........Genee-Wiedemann syndrome (C537680)
........Goldenhar Syndrome (D006053) 1
........Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
........Mandibulofacial Dysostosis with Mental Deficiency (C565420)
........Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant (C564267)
........Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive (C535707)
........Opitz Reynolds Fitzgerald syndrome (C535713)
........Patterson Stevenson syndrome (C536311) 1
........Richieri Costa Guion-Almeida syndrome (C535676)
........TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Sister Nodes:
..Bazopoulou Kyrkanidou syndrome (C537664)
..Cote Katsantoni syndrome (C536449)
..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..Craniometaphyseal dysplasia, autosomal recessive type (C536570)
..Crouzon Syndrome With Acanthosis Nigricans (C567382)
..Freeman-Sheldon syndrome (C535483)
..Hallermann's Syndrome (D006210) 1
..Hypertelorism (D006972) 32
..Hypomandibular faciocranial dysostosis (C537154)
..Kaplan Plauchu Fitch syndrome (C536892)
..Mandibulofacial Dysostosis (D008342) 20
..Maxillofacial Dysostosis (C563599)
..Oculomaxillofacial dysostosis (C537736)
..Tricho-dento-osseous syndrome 1 (C536550)
..Whistling face syndrome, recessive form (C536699)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6765

Name:

Mandibulofacial Dysostosis

Definition:

A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)

Alternative IDs:

OMIM:154500

ParentIDs:

MESH:D003394

TreeNumbers:

C05.116.099.370.231.576 |C05.660.207.231.576 |C16.131.621.207.231.576

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: D008342
MeSH: D008342
OMIM: 154500;

Genes: TCOF1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000197	Abnormal parotid gland morphology
3	HP:0030680	Abnormality of cardiovascular system morphology
4	HP:0000413	Atresia of the external auditory canal	HP:0040284
5	HP:0007633	Bilateral microphthalmos
6	HP:0000453	Choanal atresia	HP:0040284
7	HP:0000175	Cleft palate	HP:0040284
8	HP:0000185	Cleft soft palate
9	HP:0000405	Conductive hearing impairment	HP:0040284
10	HP:0000028	Cryptorchidism
11	HP:0000494	Downslanted palpebral fissures	HP:0040284
12	HP:0009555	Hypoplasia of the pharynx
13	HP:0001249	Intellectual disability	HP:0040284
14	HP:0007678	Lacrimal duct stenosis
15	HP:0000652	Lower eyelid coloboma
16	HP:0000272	Malar flattening	HP:0040284
17	HP:0000347	Micrognathia	HP:0040284
18	HP:0008551	Microtia	HP:0040284
19	HP:0000160	Narrow mouth
20	HP:0009554	Preauricular hair displacement	HP:0040284
21	HP:0000384	Preauricular skin tag
22	HP:0000508	Ptosis
23	HP:0007776	Sparse lower eyelashes
24	HP:0000486	Strabismus
25	HP:0000636	Upper eyelid coloboma	HP:0040284
26	HP:0000572	Visual loss
27	HP:0000154	Wide mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001135244.1(TCOF1):c.-59G>A	6949	TCOF1	Likely benign	151344563	RCV000190962;	N	MedGen:CN119605,OMIM:154500	5	149737251	149737251	NM_001135244.1:c.-59G>A		NC_000005.9:g.149737251G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.108+62_108+68del	6949	TCOF1	Likely benign	151344564	RCV000190964;	N	MedGen:CN119605,OMIM:154500	5	149737479	149737485	NM_001135244.1:c.108+62_108+68del		NC_000005.9:g.149737479_149737485delGCCCGCG	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.109-28T>C	6949	TCOF1	Likely benign	144149485	RCV000190967;	N	MedGen:CN119605,OMIM:154500	5	149740691	149740691	NM_001135244.1:c.109-28T>C		NC_000005.9:g.149740691T>C	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.149A>G (p.Tyr50Cys)	6949	TCOF1	Pathogenic	28941769	RCV000004170;	N	MedGen:CN119605,OMIM:154500	5	149740759	149740759	NM_000356.3:c.149A>G	NP_000347.2:p.Tyr50Cys	NC_000005.9:g.149740759A>G	OMIM Allelic Variant:606847.0005	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.305-52A>G	6949	TCOF1	Benign	41287124	RCV000190978;	N	MedGen:CN119605,OMIM:154500	5	149747355	149747355	NM_001135244.1:c.305-52A>G		NC_000005.9:g.149747355A>G	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.376_378+15del18	6949	TCOF1	Pathogenic	587776584	RCV000004173;	N	MedGen:CN119605,OMIM:154500	5	149747478	149747495	NM_000356.3:c.376_378+15del18			OMIM Allelic Variant:606847.0008	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.386_387delCA (p.Thr129Argfs)	6949	TCOF1	Pathogenic	797046037	RCV000192389;	N	MedGen:CN119605,OMIM:154500	5	149748286	149748287	NM_000356.3:c.386_387delCA	NP_000347.2:p.Thr129Argfs	NC_000005.9:g.149748286_149748287delCA	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.422dupA (p.His141Glnfs)	6949	TCOF1	Pathogenic	587776580	RCV000004167;	N	MedGen:CN119605,OMIM:154500	5	149748322	149748322	NM_000356.3:c.422dupA	NP_000347.2:p.His141Glnfs		OMIM Allelic Variant:606847.0002	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.497_500delATAC (p.Asn166Ilefs)	6949	TCOF1	Pathogenic	587776581	RCV000004168;	N	MedGen:CN119605,OMIM:154500	5	149748397	149748400	NM_000356.3:c.497_500delATAC	NP_000347.2:p.Asn166Ilefs		OMIM Allelic Variant:606847.0003	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.579G>A (p.Ala193=)	6949	TCOF1	Likely benign	142965998	RCV000190979;	N	MedGen:CN119605,OMIM:154500	5	149749105	149749105	NM_001135244.1:c.579G>A	NP_001128716.1:p.Ala193=	NC_000005.9:g.149749105G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.754C>T (p.Gln252Ter)	6949	TCOF1	Pathogenic	119470016	RCV000004166;	N	MedGen:CN119605,OMIM:154500	5	149753851	149753851	NM_000356.3:c.754C>T	NP_000347.2:p.Gln252Ter	NC_000005.9:g.149753851C>T	OMIM Allelic Variant:606847.0001	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1028G>A (p.Ser343Asn)	6949	TCOF1	Likely benign	144327167	RCV000190963;	N	MedGen:CN119605,OMIM:154500	5	149753894	149753894	NM_001135244.1:c.1028G>A	NP_001128716.1:p.Ser343Asn	NC_000005.9:g.149753894G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1083+39G>A	6949	TCOF1	Benign	56113366	RCV000190965;	N	MedGen:CN119605,OMIM:154500	5	149753988	149753988	NM_001135244.1:c.1083+39G>A		NC_000005.9:g.149753988G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1086G>A (p.Ala362=)	6949	TCOF1	Likely benign	151344568	RCV000190966;	N	MedGen:CN119605,OMIM:154500	5	149754182	149754182	NM_001135244.1:c.1086G>A	NP_001128716.1:p.Ala362=	NC_000005.9:g.149754182G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1242C>T (p.Ser414=)	6949	TCOF1	Likely benign	151344569	RCV000190968;	N	MedGen:CN119605,OMIM:154500	5	149754338	149754338	NM_001135244.1:c.1242C>T	NP_001128716.1:p.Ser414=	NC_000005.9:g.149754338C>T	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1278+60G>C	6949	TCOF1	Benign	143713714	RCV000190969;	N	MedGen:CN119605,OMIM:154500	5	149754434	149754434	NM_001135244.1:c.1278+60G>C		NC_000005.9:g.149754434G>C	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1281G>A (p.Ala427=)	6949	TCOF1	Likely benign	113299143	RCV000190970; RCV000194722;	N	MedGen:CN119605,OMIM:154500; MedGen:CN169374	5	149754519	149754519	NM_001135244.1:c.1281G>A	NP_001128716.1:p.Ala427=	NC_000005.9:g.149754519G>A	-	CN169374 not specified; CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.1406_1409delAGAG (p.Glu469Alafs)	6949	TCOF1	Pathogenic	587777313	RCV000114943;	N	MedGen:CN119605,OMIM:154500	5	149755050	149755053	NM_000356.3:c.1406_1409delAGAG	NP_000347.2:p.Glu469Alafs		OMIM Allelic Variant:606847.0010	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.1408_1409delAG (p.Ser470Glnfs)	6949	TCOF1	Pathogenic	587776583	RCV000004171;	N	MedGen:CN119605,OMIM:154500	5	149755052	149755053	NM_000356.3:c.1408_1409delAG	NP_000347.2:p.Ser470Glnfs		OMIM Allelic Variant:606847.0006	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1854G>A (p.Ala618=)	6949	TCOF1	Likely benign	151344570	RCV000190971;	N	MedGen:CN119605,OMIM:154500	5	149755433	149755433	NM_001135244.1:c.1854G>A	NP_001128716.1:p.Ala618=	NC_000005.9:g.149755433G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.1953T>C (p.Thr651=)	6949	TCOF1	Likely benign	151344571	RCV000190972;	N	MedGen:CN119605,OMIM:154500	5	149755704	149755704	NM_001135244.1:c.1953T>C	NP_001128716.1:p.Thr651=	NC_000005.9:g.149755704T>C	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.2142+22C>T	6949	TCOF1	Likely benign	151344572	RCV000190973;	N	MedGen:CN119605,OMIM:154500	5	149755915	149755915	NM_001135244.1:c.2142+22C>T		NC_000005.9:g.149755915C>T	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu)	6949	TCOF1	Uncertain significance	150515843	RCV000190974;	N	MedGen:CN119605,OMIM:154500	5	149759198	149759198	NM_001135244.1:c.2762C>T	NP_001128716.1:p.Pro921Leu	NC_000005.9:g.149759198C>T	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.2859+26A>G	6949	TCOF1	Likely benign	151344574	RCV000190975;	N	MedGen:CN119605,OMIM:154500	5	149759321	149759321	NM_001135244.1:c.2859+26A>G		NC_000005.9:g.149759321A>G	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.2859+3303G>A	6949	TCOF1	Benign	112447402	RCV000190976;	N	MedGen:CN119605,OMIM:154500	5	149762598	149762598	NM_001135244.1:c.2859+3303G>A		NC_000005.9:g.149762598G>A	-	CN119605 154500 Treacher collins syndrome 1
NM_001135244.1(TCOF1):c.2859+3389G>T	6949	TCOF1	Likely benign	151344575	RCV000190977;	N	MedGen:CN119605,OMIM:154500	5	149762684	149762684	NM_001135244.1:c.2859+3389G>T		NC_000005.9:g.149762684G>T	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.2731C>T (p.Arg911Ter)	6949	TCOF1	Pathogenic	119470017	RCV000004172;	N	MedGen:CN119605,OMIM:154500	5	149767567	149767567	NM_000356.3:c.2731C>T	NP_000347.2:p.Arg911Ter	NC_000005.9:g.149767567C>T	OMIM Allelic Variant:606847.0007	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.2876dupG (p.Ser959Argfs)	6949	TCOF1	Pathogenic	587777314	RCV000114944;	N	MedGen:CN119605,OMIM:154500	5	149769510	149769510	NM_000356.3:c.2876dupG	NP_000347.2:p.Ser959Argfs		OMIM Allelic Variant:606847.0011	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.3297C>T (p.Pro1099=)	6949	TCOF1	Likely benign	149395927	RCV000190954;	N	MedGen:CN119605,OMIM:154500	5	149772281	149772281	NM_000356.3:c.3297C>T	NP_000347.2:p.Pro1099=	NC_000005.9:g.149772281C>T	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.3369+64dupT	6949	TCOF1	Likely benign	151344577	RCV000190955;	N	MedGen:CN119605,OMIM:154500	5	149772417	149772417	NM_000356.3:c.3369+64dupT		NC_000005.9:g.149772417dupT	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.3550+8A>G	6949	TCOF1	Likely benign	151344578	RCV000190956;	N	MedGen:CN119605,OMIM:154500	5	149773123	149773123	NM_000356.3:c.3550+8A>G		NC_000005.9:g.149773123A>G	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.3711A>C (p.Ser1237=)	6949	TCOF1	Likely benign	146509895	RCV000190957;	N	MedGen:CN119605,OMIM:154500	5	149776005	149776005	NM_000356.3:c.3711A>C	NP_000347.2:p.Ser1237=	NC_000005.9:g.149776005A>C	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.4064_4065delATinsGA (p.Asp1355Gly)	6949	TCOF1	Likely benign	151344580	RCV000190958;	N	MedGen:CN119605,OMIM:154500	5	149776358	149776359	NM_000356.3:c.4064_4065delATinsGA	NP_000347.2:p.Asp1355Gly	NC_000005.9:g.149776358_149776359delATinsGA	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.4134delA (p.Glu1379Lysfs)	6949	TCOF1	Pathogenic	587776585	RCV000004174;	N	MedGen:CN119605,OMIM:154500	5	149777939	149777939	NM_000356.3:c.4134delA	NP_000347.2:p.Glu1379Lysfs		OMIM Allelic Variant:606847.0009	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.4138_4142delAAGAA (p.Lys1380Glufs)	6949	TCOF1	Pathogenic	587776582	RCV000004169;	N	MedGen:CN119605,OMIM:154500	5	149777943	149777947	NM_000356.3:c.4138_4142delAAGAA	NP_000347.2:p.Lys1380Glufs		OMIM Allelic Variant:606847.0004	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.4146_4148delGAA (p.Lys1383del)	6949	TCOF1	Uncertain significance	151344581	RCV000190959;	N	MedGen:CN119605,OMIM:154500	5	149777951	149777953	NM_000356.3:c.4146_4148delGAA	NP_000347.2:p.Lys1383del	NC_000005.9:g.149777951_149777953delGAA	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.4209+106G>T	6949	TCOF1	Likely benign	151344582	RCV000190960;	N	MedGen:CN119605,OMIM:154500	5	149778120	149778120	NM_000356.3:c.4209+106G>T		NC_000005.9:g.149778120G>T	-	CN119605 154500 Treacher collins syndrome 1
NM_000356.3(TCOF1):c.4209+108C>A	6949	TCOF1	Benign	111365835	RCV000190961;	N	MedGen:CN119605,OMIM:154500	5	149778122	149778122	NM_000356.3:c.4209+108C>A		NC_000005.9:g.149778122C>A	-	CN119605 154500 Treacher collins syndrome 1