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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: Choanal Atresia (D002754)
Parent Node: Deafness (D003638)
Parent Node: Facies (D019066)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Burn-Mckeown syndrome (C537411)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1543

Name:

Burn-Mckeown syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D002754|MESH:D003638|MESH:D006330|MESH:D019066

TreeNumbers:

C08.460.171/C537411 |C08.695.271/C537411 |C09.218.458.341.186/C537411 |C09.603.171/C537411 |C10.597.751.418.341.186/C537411 |C14.240.400/C537411 |C14.280.400/C537411 |C16.131.240.400/C537411 |C16.131.740.271/C537411 |C23.550.291.812/C537411 |C23.888.592.763.393.34

Synonyms:

Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance

Slim Mappings:

Reference:

MedGen: C537411
MeSH: C537411
OMIM: 608572;

Genes: TXNL4A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0001631	Atrial septal defect
5	HP:0000193	Bifid uvula
6	HP:0004502	Bilateral choanal atresia
7	HP:0200138	Bilateral choanal atresia/stenosis
8	HP:0000581	Blepharophimosis
9	HP:0000175	Cleft palate
10	HP:0000204	Cleft upper lip
11	HP:0000405	Conductive hearing impairment
12	HP:0008872	Feeding difficulties in infancy
13	HP:0000316	Hypertelorism
14	HP:0000338	Hypomimic face
15	HP:0000652	Lower eyelid coloboma
16	HP:0000303	Mandibular prognathia
17	HP:0000347	Micrognathia
18	HP:0000160	Narrow mouth
19	HP:0000384	Preauricular skin tag
20	HP:0000426	Prominent nasal bridge
21	HP:0000411	Protruding ear
22	HP:0000089	Renal hypoplasia
23	HP:0012745	Short palpebral fissure
24	HP:0000322	Short philtrum
25	HP:0000233	Thin vermilion border
26	HP:0000430	Underdeveloped nasal alae
27	HP:0001629	Ventricular septal defect

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
NC_000018.9:g.76841645_78077248del1235604	-1	-	Pathogenic	-1	RCV000170541;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	76841645	78077248	-	-		-	C1837822 608572 Burn-Mckeown syndrome
NC_000018.9:g.76854774_78077248del1222475	-1	-	Pathogenic	-1	RCV000170538;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	76854774	78077248	-	-		-	C1837822 608572 Burn-Mckeown syndrome
NC_000018.9:g.77421290_77904990del483701	-1	-	Pathogenic	-1	RCV000170540;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77421290	77904990	-	-		-	C1837822 608572 Burn-Mckeown syndrome
NC_000018.9:g.73376178_78077248del4701071	-1	more than 10	Pathogenic	-1	RCV000170542;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	73376178	78077248	-	-		-	C1837822 608572 Burn-Mckeown syndrome
NM_006701.4(TXNL4A):c.258_429del172 (p.Asn87Alafs)	10907	TXNL4A	Pathogenic	-1	RCV000149587;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77733685	77733856	NM_006701.4:c.258_429del172	NP_006692.1:p.Asn87Alafs		OMIM Allelic Variant:611595.0005	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.136G>T (p.Glu46Ter)	10907	TXNL4A	Pathogenic	727502793	RCV000149584; RCV000170535;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77733765	77733765	NM_001305563.1:c.136G>T	NP_001292492.1:p.Glu46Ter	NC_000018.9:g.77733765C>A	OMIM Allelic Variant:611595.0002	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.136G>T (p.Glu46Ter)	10907	TXNL4A	Pathogenic	727502793	RCV000149584; RCV000170535;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77733765	77733765	NM_001305563.1:c.136G>T	NP_001292492.1:p.Glu46Ter	NC_000018.9:g.77733765C>A	OMIM Allelic Variant:611595.0002	C1837822 608572 Burn-Mckeown syndrome
NC_000018.10:g.(?_79973783)_(79973853_79977598)del	10907	TXNL4A	Pathogenic	-1	RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77733783	77737598	-	-		-	C1837822 608572 Burn-Mckeown syndrome
NM_006701.4(TXNL4A):c.131delT (p.Val44Alafs)	10907	TXNL4A	Pathogenic	727502795	RCV000149586; RCV000170539;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748262	77748262	NM_006701.4:c.131delT	NP_006692.1:p.Val44Alafs	NC_000018.9:g.77748262delA	OMIM Allelic Variant:611595.0004	C1837822 608572 Burn-Mckeown syndrome
NM_006701.4(TXNL4A):c.131delT (p.Val44Alafs)	10907	TXNL4A	Pathogenic	727502795	RCV000149586; RCV000170539;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748262	77748262	NM_006701.4:c.131delT	NP_006692.1:p.Val44Alafs	NC_000018.9:g.77748262delA	OMIM Allelic Variant:611595.0004	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10655C>T	10907	TXNL4A	Pathogenic	727502794	RCV000149585; RCV000170536;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748356	77748356	NM_001305563.1:c.-60-10655C>T		NC_000018.9:g.77748356G>A	OMIM Allelic Variant:611595.0003	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10655C>T	10907	TXNL4A	Pathogenic	727502794	RCV000149585; RCV000170536;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748356	77748356	NM_001305563.1:c.-60-10655C>T		NC_000018.9:g.77748356G>A	OMIM Allelic Variant:611595.0003	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del	10907	TXNL4A	Pathogenic	535089924	RCV000149583; RCV000170535; RCV000170536; RCV000170538; RCV000170539; RCV000170540; RCV000170541; RCV000170542; RCV000170543;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748614	NM_001305563.1:c.-60-10913_-60-10880del		NC_000018.9:g.77748581_77748614del34	OMIM Allelic Variant:611595.0001	C1837822 608572 Burn-Mckeown syndrome
NM_001305563.1(TXNL4A):c.-60-10914_-60-10880del	10907	TXNL4A	Pathogenic	-1	RCV000149588;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748581	77748636	NM_001305563.1:c.-60-10914_-60-10880del			OMIM Allelic Variant:611595.0006	C1837822 608572 Burn-Mckeown syndrome
NC_000018.9(TXNL4A):g.77748604_77748637del34	10907	TXNL4A	Pathogenic	786205699	RCV000170537;	N	MedGen:C1837822,OMIM:608572,ORPHA:1200	18	77748604	77748637	NM_001305563.1:c.-60-10936_-60-10903del		NC_000018.9:g.77748604_77748637del34	-	C1837822 608572 Burn-Mckeown syndrome