BMKS
MCID: BRN062
MIFTS: 30

Burn-Mckeown Syndrome (BMKS)

Categories: Ear diseases, Eye diseases, Genetic diseases, Smell/Taste diseases

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:



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

Related Diseases for Burn-Mckeown Syndrome

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.3
2 choanal atresia, posterior 10.4
3 burns 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 glioma 10.2
6 breast cancer 10.0
7 fish-eye disease 10.0
8 osteoporosis 10.0
9 suppressor of tumorigenicity 3 10.0
10 cerebrotendinous xanthomatosis 10.0
11 malignant glioma 10.0

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



Diseases related to Burn-Mckeown Syndrome

Symptoms & Phenotypes for Burn-Mckeown Syndrome

Human phenotypes related to Burn-Mckeown Syndrome:

33 (show all 26)
# Description HPO Frequency 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

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 30 TXNL4A

Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

42
Heart, Skin, Kidney, Eye, Breast

Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

# Title Authors Year
1
Severe intellectual disability in a patient with Burn-McKeown syndrome. ( 28225383 )
2017
2
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )
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
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. ( 16523509 )
2006
6
Two brothers with Burn-McKeown syndrome. ( 14564154 )
2003
7
A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? ( 10319205 )
1999
8
New dysmorphic syndrome with choanal atresia in siblings. ( 1342861 )
1992

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

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....