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 ⁵⁷ ²⁴ ²⁵ ⁷⁵ ³⁷ ²⁹ ⁶ ⁴⁰ ⁷³

Oculootofacial Dysplasia ⁵⁷ ²⁵ ⁷⁵ ⁷³

Bmks ⁵⁷ ²⁴ ²⁵ ⁷⁵

Oofd ⁵⁷ ²⁵ ⁷⁵

Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance ²⁵

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome ²⁵

Oculootofacial Dysplasia; Oofd ⁵⁷

Oculo-Oto-Facial Dysplasia ²⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

burn-mckeown syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 608572

MedGen ⁴² C1837822

MeSH ⁴⁴ D002754 D003638 D006330 more

KEGG ³⁷ H01839

UMLS ⁷³ C1837822 C1835913

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Summaries for Burn-Mckeown Syndrome

OMIM : ⁵⁷ 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 burns. 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 : ²⁵ 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 : ⁷⁵ 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	12.1
2	burns	10.5
3	choanal atresia, posterior	10.2
4	alacrima, achalasia, and mental retardation syndrome	10.0
5	suppressor of tumorigenicity 3	9.9
6	cervicitis	9.9
7	glioma	9.9

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

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Symptoms & Phenotypes for Burn-Mckeown Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Burn-Mckeown Syndrome:

³² (show all 26)

#	Description	HPO Source Accession
1	hypertelorism ³²	HP:0000316
2	mandibular prognathia ³²	HP:0000303
3	feeding difficulties in infancy ³²	HP:0008872
4	abnormality of metabolism/homeostasis ³²	HP:0001939
5	cleft palate ³²	HP:0000175
6	micrognathia ³²	HP:0000347
7	atrial septal defect ³²	HP:0001631
8	protruding ear ³²	HP:0000411
9	prominent nasal bridge ³²	HP:0000426
10	underdeveloped nasal alae ³²	HP:0000430
11	short philtrum ³²	HP:0000322
12	narrow mouth ³²	HP:0000160
13	conductive hearing impairment ³²	HP:0000405
14	renal hypoplasia ³²	HP:0000089
15	ventricular septal defect ³²	HP:0001629
16	blepharophimosis ³²	HP:0000581
17	thin vermilion border ³²	HP:0000233
18	preauricular skin tag ³²	HP:0000384
19	cleft upper lip ³²	HP:0000204
20	bifid uvula ³²	HP:0000193
21	lower eyelid coloboma ³²	HP:0000652
22	short palpebral fissure ³²	HP:0012745
23	2-3 toe syndactyly ³²	HP:0004691
24	hypomimic face ³²	HP:0000338
25	bilateral choanal atresia ³²	HP:0004502
26	bilateral choanal atresia/stenosis ³²	HP:0200138

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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 ²⁹	TXNL4A

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Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

⁴¹

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	1048.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ 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 ²³ ( 27569544 )	25434003

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Variations for Burn-Mckeown Syndrome

ClinVar genetic disease variations for Burn-Mckeown Syndrome:

⁶

(show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TXNL4A	NM_001305563.1(TXNL4A): c.-60-10913_-60-10880del34	deletion	Pathogenic	rs535089924	GRCh37	Chromosome 18, 77748581: 77748614
2	TXNL4A	NM_001305563.1(TXNL4A): c.-60-10913_-60-10880del34	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: g.76841645_78077248del1235604	deletion	no interpretation for the single variant		GRCh37	Chromosome 18, 76841645: 78077248
14	TXNL4A	NC_000018.10: g.(?_79973783)_(79973853_79977598)del	deletion	no interpretation for the single variant		GRCh37	Chromosome 18, 77733783: 77737598
15	TXNL4A	NC_000018.10: g.(?_79973783)_(79973853_79977598)del	deletion	no interpretation for the single variant		GRCh38	Chromosome 18, 79973783: 79977598
16	TXNL4A	NC_000018.9(TXNL4A): g.77748604_77748637del34	deletion	Pathogenic	rs786205699	GRCh38	Chromosome 18, 79988604: 79988637
17	TXNL4A	NC_000018.9(TXNL4A): g.77748604_77748637del34	deletion	Pathogenic	rs786205699	GRCh37	Chromosome 18, 77748604: 77748637
18	covers 17 genes, none of which curated to show dosage sensitivity	NC_000018.9: g.73376178_78077248del4701071	deletion	Pathogenic		GRCh37	Chromosome 18, 73376178: 78077248
19	TXNL4A	NC_000018.9: g.76854774_78077248del1222475	deletion	no interpretation for the single variant		GRCh37	Chromosome 18, 76854774: 78077248
20	TXNL4A	NC_000018.9: g.77421290_77904990del483701	deletion	no interpretation for the single variant		GRCh37	Chromosome 18, 77421290: 77904990
21	TXNL4A	NM_001305563.1(TXNL4A): c.-60-959_44+638del	deletion	Pathogenic		GRCh38	Chromosome 18, 79976960: 79978660
22	TXNL4A	NM_001305563.1(TXNL4A): c.-60-959_44+638del	deletion	Pathogenic		GRCh37	Chromosome 18, 77736960: 77738660
23	TXNL4A	NM_006701.4(TXNL4A): c.153+3A> G	single nucleotide variant	Pathogenic	rs879255559	GRCh37	Chromosome 18, 77748237: 77748237
24	TXNL4A	NM_006701.4(TXNL4A): c.153+3A> G	single nucleotide variant	Pathogenic	rs879255559	GRCh38	Chromosome 18, 79988237: 79988237
25	TXNL4A	NM_006701.2: c.Exon 3 deletion	deletion	Pathogenic
26	TXNL4A	NC_000018.9: g.76841645_78077248del1235604	copy number loss	Pathogenic		GRCh37	Chromosome 18, 76841645: 78077248
27	TXNL4A	NC_000018.9: g.76854774_78077248del1222475	copy number loss	Pathogenic		GRCh37	Chromosome 18, 76854774: 78077248
28	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:

³⁷

#	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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