Disease #00366 (OFC5 (orofacial cleft, type 5 (OFC-5, cleft lip with/without cleft palate)), OMIM:608874)

Official abbreviation OFC5
Name orofacial cleft, type 5 (OFC-5, cleft lip with/without cleft palate)
OMIM ID 608874
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 24
Phenotype entries for this disease 24
Associated with 1 gene MSX1
Associated tissues -
Disease features -
Remarks -
Date created 2014-04-08 21:55:28 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00016406 - PubMed: Jezewski 2003 - ? ? Oman - - - - - OFC5 Cleft upper lip(HP:0000204) Cleft palate (HP:0000175) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016408 - PubMed: Jezewski 2003 3 cases ? ? Philippines - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) MSX1 MSX1 1 3 Elaine Lustosa Mendes
00016409 - PubMed: Jezewski 2003 - ? ? Chile - - - - - OFC5 unilateral cleft palate (HP:0000175)/cleft upper lip(HP:0000204) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016410 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Philippines - - - - - OFC5 Cleft palate (HP:0000175) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016411 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Denmark - - - - - OFC5 cleft lip (HP:410030) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016412 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Uruguay - - - - - OFC5 bilateral cleft lip/palate (HP:0002744) MSX1 MSX1 2 1 Elaine Lustosa Mendes
00016481 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 Oral cleft (HP:0000202) choanal atresia (HP:0000453) anophthalmia(HP:0000528) microphthalmia (HP:0000568), congenital cataracts (HP:0000519), pachygyria(HP:0001302), Intellectual disability(HP:0001249) Dipigmentation (HP:0007483) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016482 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 cleft palate (HP:0000175) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016483 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 cleft palate (HP:0000175) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016510 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 bilateral cleft lip/palate (HP:0002744) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016511 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Chile - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016512 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Philippines - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) MSX1 MSX1 1 1 Elaine Lustosa Mendes
00016534 - PubMed: Modesto 2006 Studied 52 patients (33 with orofacial cleft; 19 orofacial cleft and tooth agenesis) and 165 controls. ? ? United States - - - - - OFC5 Oral cleft (HP:0000202) Abnormal number of teeth(HP:0006483) MSX1 MSX1 1 52 Elaine Lustosa Mendes
00229446 - PubMed: Jezewski 2003 - - - Viet Nam - - - - - OFC5 cleft lip (HP:410030) MSX1 MSX1 1 1 Johan den Dunnen
00229447 - PubMed: Jezewski 2003 - - - Japan - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) MSX1 MSX1 1 1 Johan den Dunnen
00229448 - PubMed: Jezewski 2003 - - - Philippines - - - - - OFC5 bilateral cleft lip/palate (HP:0002744) MSX1 MSX1 1 1 Johan den Dunnen
00229449 - PubMed: Jezewski 2003 - - - Philippines - - - - - OFC5 cleft lip (HP:410030) MSX1 MSX1 1 1 Johan den Dunnen
00229541 Fam1 PubMed: Suzuki 2004 3 families /175 studied; 3-generation family, 3 affected (3M) F;M - Viet Nam - - - - - OFC5 - MSX1 MSX1 1 3 Johan den Dunnen
00229546 - PubMed: Vieira 2005 studies 1468 cleft cases - - Philippines - - - - - OFC5 - MSX1 MSX1 1 1 Johan den Dunnen
00229547 Fam PubMed: Vieira 2005 studies 1468 cleft cases; 5-generation family, 4 affected (F, 3M, two non-carriers), unaffected carrier relatives - - Philippines - - - - - OFC5 - MSX1 MSX1 1 1 Johan den Dunnen
00229549 Fam2 PubMed: Suzuki 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - OFC5 see paper; ... MSX1 MSX1 2 1 Johan den Dunnen
00229550 Fam3 PubMed: Suzuki 2004 2-generation family, 1 affected, unaffected heterozygous carrier mother F - Japan - - - - - OFC5 cleft palet MSX1 MSX1 1 1 Johan den Dunnen
00229551 - PubMed: Vieira 2004 studied 45 patients - - Chile - - - - - OFC5 orofacial cleft MSX1 MSX1 1 1 Johan den Dunnen
00229552 - PubMed: Vieira 2004 studied 45 patients - - Chile - - - - - OFC5 orofacial cleft MSX1 MSX1 1 1 Johan den Dunnen
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