Burn-Mckeown Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Burn-Mckeown Syndrome

MalaCards integrated aliases for Burn-Mckeown Syndrome:

Name: Burn-Mckeown Syndrome ⁵⁸ ²⁵ ²⁶ ⁷⁶ ³⁸ ³⁰ ⁶ ⁴¹ ⁷⁴

Oculootofacial Dysplasia ⁵⁸ ²⁶ ⁷⁶ ⁷⁴

Bmks ⁵⁸ ²⁵ ²⁶ ⁷⁶

Oofd ⁵⁸ ²⁶ ⁷⁶

Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance ²⁶

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome ²⁶

Oculootofacial Dysplasia; Oofd ⁵⁸

Oculo-Oto-Facial Dysplasia ²⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

burn-mckeown syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases Ear diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 608572

KEGG ³⁸ H01839

MeSH ⁴⁵ D002754 D003638 D006330 more

MedGen ⁴³ C1837822

UMLS ⁷⁴ C1835913 C1837822

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Summaries for Burn-Mckeown Syndrome

OMIM : ⁵⁸ Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (summary by Wieczorek et al., 2014). (608572)

MalaCards based summary : Burn-Mckeown Syndrome, also known as oculootofacial dysplasia, is related to choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome and choanal atresia, posterior. An important gene associated with Burn-Mckeown Syndrome is TXNL4A (Thioredoxin Like 4A), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include heart, skin and kidney, and related phenotypes are hypertelorism and mandibular prognathia

Genetics Home Reference : ²⁶ Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.

UniProtKB/Swiss-Prot : ⁷⁶ Burn-McKeown syndrome: A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal.

GeneReviews: NBK373577

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Related Diseases for Burn-Mckeown Syndrome

Diseases related to Burn-Mckeown Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	12.3
2	choanal atresia, posterior	10.4
3	alacrima, achalasia, and mental retardation syndrome	10.2
4	breast cancer	10.0
5	fish-eye disease	10.0
6	osteoporosis	10.0
7	suppressor of tumorigenicity 3	10.0
8	cerebrotendinous xanthomatosis	10.0
9	glioma	10.0
10	sulfite oxidase deficiency due to molybdenum cofactor deficiency	10.0

Graphical network of the top 20 diseases related to Burn-Mckeown Syndrome:

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Symptoms & Phenotypes for Burn-Mckeown Syndrome

Human phenotypes related to Burn-Mckeown Syndrome:

³³ (show all 26)

#	Description	HPO Source Accession
1	hypertelorism ³³	HP:0000316
2	mandibular prognathia ³³	HP:0000303
3	feeding difficulties in infancy ³³	HP:0008872
4	abnormality of metabolism/homeostasis ³³	HP:0001939
5	cleft palate ³³	HP:0000175
6	micrognathia ³³	HP:0000347
7	atrial septal defect ³³	HP:0001631
8	protruding ear ³³	HP:0000411
9	prominent nasal bridge ³³	HP:0000426
10	underdeveloped nasal alae ³³	HP:0000430
11	short philtrum ³³	HP:0000322
12	narrow mouth ³³	HP:0000160
13	conductive hearing impairment ³³	HP:0000405
14	renal hypoplasia ³³	HP:0000089
15	ventricular septal defect ³³	HP:0001629
16	blepharophimosis ³³	HP:0000581
17	thin vermilion border ³³	HP:0000233
18	preauricular skin tag ³³	HP:0000384
19	cleft upper lip ³³	HP:0000204
20	bifid uvula ³³	HP:0000193
21	lower eyelid coloboma ³³	HP:0000652
22	short palpebral fissure ³³	HP:0012745
23	2-3 toe syndactyly ³³	HP:0004691
24	hypomimic face ³³	HP:0000338
25	bilateral choanal atresia ³³	HP:0004502
26	bilateral choanal atresia/stenosis ³³	HP:0200138

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
lower eyelid coloboma
short palpebral fissures

Head And Neck Face:
micrognathia
short philtrum
hypomimic face
prominent chin

Head And Neck Nose:
prominent nasal bridge
choanal atresia or choanal stenosis, bilateral

Head And Neck Ears:
conductive hearing loss
hypoplastic alae nasi
prominent ears
preauricular tag

Neurologic Central Nervous System:
normal development

Laboratory Abnormalities:
abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
small mouth
thin lips
more

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Feet:
2-3 toe syndactyly

Abdomen Gastrointestinal:
feeding problems

Genitourinary Kidneys:
hypoplastic/dysplastic kidney

Clinical features from OMIM:

608572

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Drugs & Therapeutics for Burn-Mckeown Syndrome

Search Clinical Trials , NIH Clinical Center for Burn-Mckeown Syndrome

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Genetic Tests for Burn-Mckeown Syndrome

Genetic tests related to Burn-Mckeown Syndrome:

#	Genetic test	Affiliating Genes
1	Burn-Mckeown Syndrome ³⁰	TXNL4A

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Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

⁴²

Heart, Skin, Kidney

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Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

#	Title	Authors	Year
1	Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )	Goos J.A.C....Hurst J.A.	2017
2	Severe intellectual disability in a patient with Burn-McKeown syndrome. ( 28225383 )	Strang-Karlsson S....Douzgou S.	2017
3	Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. ( 25434003 )	Wieczorek D....Strom T.M.	2014
4	Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. ( 17022072 )	Wieczorek D....Gillessen-Kaesbach G.	2006
5	Two brothers with Burn-McKeown syndrome. ( 14564154 )	Wieczorek D....Gillessen-Kaesbach G.	2003
6	A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? ( 10319205 )	Toriello H.V....Higgins J.V.	1999
7	Burn-McKeown Syndrome ( 27413799 )	Pagon R.A....Stephens K.	1993

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Genes for Burn-Mckeown Syndrome

Genes/enhancers related to Burn-Mckeown Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TXNL4A	Thioredoxin Like 4A	Protein Coding	1048.61	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	25434003 27413799 16523509 (more) 1342861 14564154
1	TXNL4A::GH18J079986	TSS distance: +45.9kb Elite enhancer with elite association with TXNL4A			Curated enhancer-disease association ²⁴ ( 27569544 )	25434003

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Variations for Burn-Mckeown Syndrome

ClinVar genetic disease variations for Burn-Mckeown Syndrome:

⁶ (show all 23)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TXNL4A	NM_001305563.1(TXNL4A): c.-60-10913_-60-10880del	deletion	Pathogenic	rs535089924	GRCh37	Chromosome 18, 77748581: 77748614
2	TXNL4A	NM_001305563.1(TXNL4A): c.-60-10913_-60-10880del	deletion	Pathogenic	rs535089924	GRCh38	Chromosome 18, 79988581: 79988614
3	TXNL4A	NM_006701.4(TXNL4A): c.349G> T (p.Glu117Ter)	single nucleotide variant	Pathogenic	rs727502793	GRCh37	Chromosome 18, 77733765: 77733765
4	TXNL4A	NM_006701.4(TXNL4A): c.349G> T (p.Glu117Ter)	single nucleotide variant	Pathogenic	rs727502793	GRCh38	Chromosome 18, 79973765: 79973765
5	TXNL4A	NM_006701.4(TXNL4A): c.37C> T (p.Gln13Ter)	single nucleotide variant	Pathogenic	rs727502794	GRCh37	Chromosome 18, 77748356: 77748356
6	TXNL4A	NM_006701.4(TXNL4A): c.37C> T (p.Gln13Ter)	single nucleotide variant	Pathogenic	rs727502794	GRCh38	Chromosome 18, 79988356: 79988356
7	TXNL4A	NM_006701.4(TXNL4A): c.131delT (p.Val44Alafs)	deletion	Pathogenic	rs727502795	GRCh38	Chromosome 18, 79988262: 79988262
8	TXNL4A	NM_006701.4(TXNL4A): c.131delT (p.Val44Alafs)	deletion	Pathogenic	rs727502795	GRCh37	Chromosome 18, 77748262: 77748262
9	TXNL4A	NM_006701.4(TXNL4A): c.258_429del172 (p.Asn87Alafs)	deletion	Pathogenic		GRCh38	Chromosome 18, 79973685: 79977597
10	TXNL4A	NM_006701.4(TXNL4A): c.258_429del172 (p.Asn87Alafs)	deletion	Pathogenic		GRCh37	Chromosome 18, 77733685: 77737597
11	TXNL4A	NM_001305563.1(TXNL4A): c.-60-10914_-60-10880del	deletion	Pathogenic		GRCh37	Chromosome 18, 77748581: 77748636
12	TXNL4A	NM_001305563.1(TXNL4A): c.-60-10914_-60-10880del	deletion	Pathogenic		GRCh38	Chromosome 18, 79988581: 79988636
13	TXNL4A	NC_000018.9(TXNL4A): g.77748604_77748637del34	deletion	Pathogenic	rs786205699	GRCh38	Chromosome 18, 79988604: 79988637
14	TXNL4A	NC_000018.9(TXNL4A): g.77748604_77748637del34	deletion	Pathogenic	rs786205699	GRCh37	Chromosome 18, 77748604: 77748637
15	covers 17 genes, none of which curated to show dosage sensitivity	NC_000018.9: g.73376178_78077248del4701071	deletion	Pathogenic		GRCh37	Chromosome 18, 73376178: 78077248
16	TXNL4A	NC_000018.9: g.76841645_78077248del1235604	deletion	Pathogenic		GRCh37	Chromosome 18, 76841645: 78077248
17	TXNL4A	NC_000018.9: g.76854774_78077248del1222475	deletion	Pathogenic		GRCh37	Chromosome 18, 76854774: 78077248
18	TXNL4A	NM_001305563.1(TXNL4A): c.-60-959_44+638del	deletion	Pathogenic		GRCh38	Chromosome 18, 79976960: 79978660
19	TXNL4A	NM_001305563.1(TXNL4A): c.-60-959_44+638del	deletion	Pathogenic		GRCh37	Chromosome 18, 77736960: 77738660
20	TXNL4A	NM_006701.4(TXNL4A): c.153+3A> G	single nucleotide variant	Pathogenic	rs879255559	GRCh37	Chromosome 18, 77748237: 77748237
21	TXNL4A	NM_006701.4(TXNL4A): c.153+3A> G	single nucleotide variant	Pathogenic	rs879255559	GRCh38	Chromosome 18, 79988237: 79988237
22	TXNL4A	NM_006701.2: c.Exon 3 deletion	deletion	Pathogenic
23	TXNL4A	GRCh37/hg19 18q23(chr18: 77421290-77904990)x1	copy number loss	Pathogenic		GRCh37	Chromosome 18, 77421290: 77904990

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Expression for Burn-Mckeown Syndrome

Search GEO for disease gene expression data for Burn-Mckeown Syndrome.

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Pathways for Burn-Mckeown Syndrome

Pathways related to Burn-Mckeown Syndrome according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Spliceosome	hsa03040

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GO Terms for Burn-Mckeown Syndrome

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Sources for Burn-Mckeown Syndrome

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Burn-Mckeown Syndrome (BMKS)

Aliases & Classifications for Burn-Mckeown Syndrome

MalaCards integrated aliases for Burn-Mckeown Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Burn-Mckeown Syndrome

Related Diseases for Burn-Mckeown Syndrome

Diseases related to Burn-Mckeown Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Burn-Mckeown Syndrome:

Symptoms & Phenotypes for Burn-Mckeown Syndrome

Human phenotypes related to Burn-Mckeown Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Burn-Mckeown Syndrome

Genetic Tests for Burn-Mckeown Syndrome

Genetic tests related to Burn-Mckeown Syndrome:

Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

Genes for Burn-Mckeown Syndrome

Genes/enhancers related to Burn-Mckeown Syndrome (1 elite genes):

Variations for Burn-Mckeown Syndrome

ClinVar genetic disease variations for Burn-Mckeown Syndrome:

Expression for Burn-Mckeown Syndrome

Pathways for Burn-Mckeown Syndrome

Pathways related to Burn-Mckeown Syndrome according to KEGG:

GO Terms for Burn-Mckeown Syndrome

Sources for Burn-Mckeown Syndrome