MCID: BRN062
MIFTS: 29

Burn-Mckeown Syndrome

Categories: Genetic diseases, Ear diseases

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:



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

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 Top Affiliating Genes
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:



Diseases related to Burn-Mckeown Syndrome

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 Frequency 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

Drugs & Therapeutics for Burn-Mckeown Syndrome

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

Genetic Tests for Burn-Mckeown Syndrome

Genetic tests related to Burn-Mckeown Syndrome:

# Genetic test Affiliating Genes
1 Burn-Mckeown Syndrome 29 TXNL4A

Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

41
Heart, Skin, Kidney

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 )
2017
2
Severe intellectual disability in a patient with Burn-McKeown syndrome. ( 28225383 )
2017
3
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. ( 25434003 )
2014
4
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. ( 17022072 )
2006
5
Two brothers with Burn-McKeown syndrome. ( 14564154 )
2003
6
A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? ( 10319205 )
1999
7
Burn-McKeown Syndrome ( 27413799 )
1993

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

Expression for Burn-Mckeown Syndrome

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

Pathways for Burn-Mckeown Syndrome

Pathways related to Burn-Mckeown Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Spliceosome hsa03040

GO Terms for Burn-Mckeown Syndrome

Sources for Burn-Mckeown Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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