BMKS
MCID: BRN062
MIFTS: 46

Burn-Mckeown Syndrome (BMKS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Burn-Mckeown Syndrome

MalaCards integrated aliases for Burn-Mckeown Syndrome:

Name: Burn-Mckeown Syndrome 57 12 25 20 43 58 72 36 29 6 15 39 70
Oculootofacial Dysplasia 57 43 72 70
Bmks 57 25 43 72
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 20 43 58
Oofd 57 43 72
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance 20 43
Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome 12
Choanal Atresia Deafness Cardiac Defects Dysmorphism 20
Oculootofacial Dysplasia; Oofd 57
Oculo-Oto-Facial Dysplasia 43

Characteristics:

Orphanet epidemiological data:

58
burn-mckeown syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
burn-mckeown syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080695
OMIM® 57 608572
KEGG 36 H01839
MESH via Orphanet 45 C537411
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1837822
Orphanet 58 ORPHA1200
MedGen 41 C1837822
UMLS 70 C1835913 C1837822

Summaries for Burn-Mckeown Syndrome

MedlinePlus Genetics : 43 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.In people with Burn-McKeown syndrome, both nasal passages are usually narrowed (bilateral choanal stenosis) or completely blocked (bilateral choanal atresia), which can cause life-threatening breathing problems in infancy without surgical repair. Typical facial features include narrow openings of the eyelids (short palpebral fissures); a gap (coloboma) in the lower eyelids; widely spaced eyes (hypertelorism); a prominent bridge of the nose; a short space between the nose and the upper lip (philtrum); a small opening of the mouth (microstomia); and large, protruding ears.Some people with Burn-McKeown syndrome have congenital hearing loss in both ears which varies in severity among affected individuals. The hearing loss is described as mixed, which means that it is caused by both changes in the inner ear (sensorineural hearing loss) and changes in the middle ear (conductive hearing loss).Other features that can occur in Burn-McKeown syndrome include mild short stature and congenital heart defects such as patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Intelligence is unaffected in Burn-McKeown syndrome.

MalaCards based summary : Burn-Mckeown Syndrome, also known as oculootofacial dysplasia, is related to choanal atresia, posterior and postaxial acrofacial dysostosis. An important gene associated with Burn-Mckeown Syndrome is TXNL4A (Thioredoxin Like 4A), and among its related pathways/superpathways are Spliceosome and Gene Expression. Affiliated tissues include heart, eye and kidney, and related phenotypes are hypertelorism and short palpebral fissure

Disease Ontology : 12 A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \nhearing loss, heart abnormalities, and short stature.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1200 Definition Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

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) (Updated 05-Apr-2021)

KEGG : 36 Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms, consisting of narrow palpebral fissures, coloboma of the lower eyelids, a prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS:H00610] is therefore a possible differential diagnosis. Mutations in TXNL4A, encoding a protein of the major spliceosome, have been identified as the cause of BMKS.

UniProtKB/Swiss-Prot : 72 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

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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0012745
3 bilateral choanal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004502
4 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
5 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
6 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
7 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
8 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
9 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
10 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
11 mandibular prognathia 31 HP:0000303
12 feeding difficulties in infancy 31 HP:0008872
13 micrognathia 31 HP:0000347
14 atrial septal defect 31 HP:0001631
15 narrow mouth 31 HP:0000160
16 conductive hearing impairment 31 HP:0000405
17 cleft upper lip 31 HP:0000204
18 preauricular skin tag 31 HP:0000384
19 abnormality of the eye 58 Occasional (29-5%)
20 protruding ear 31 HP:0000411
21 renal hypoplasia 31 HP:0000089
22 short philtrum 31 HP:0000322
23 ventricular septal defect 31 HP:0001629
24 blepharophimosis 31 HP:0000581
25 thin vermilion border 31 HP:0000233
26 underdeveloped nasal alae 31 HP:0000430
27 abnormality of metabolism/homeostasis 31 HP:0001939
28 bifid uvula 31 HP:0000193
29 lower eyelid coloboma 31 HP:0000652
30 2-3 toe syndactyly 31 HP:0004691
31 hypomimic face 31 HP:0000338
32 bilateral choanal atresia/stenosis 31 HP:0200138

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Burn-Mckeown Syndrome according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.85 SNRPB
2 Decreased homologous recombination repair frequency GR00236-A-1 9.85 PRPF6 SF3B4 SNRPB
3 Decreased homologous recombination repair frequency GR00236-A-2 9.85 PRPF6 SF3B4 SNRPB
4 Decreased homologous recombination repair frequency GR00236-A-3 9.85 PRPF6 SF3B4 SNRPB
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.65 PRPF6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.65 PRPF6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.65 PRPF6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.65 SERPINB8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.65 SERPINB8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.65 PRPF6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.65 PRPF6
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.65 SERPINB8
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.65 PRPF6
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-88 9.65 SERPINB8
15 Increased gamma-H2AX phosphorylation GR00053-A 9.1 EFTUD2 PRPF4 PRPF6 RTTN SF3B4 SNRPB

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:

40
Heart, Eye, Kidney

Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

(show all 21)
# Title Authors PMID Year
1
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25 57 6 61
25434003 2014
2
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. 6 57 25
16523509 2006
3
Two brothers with Burn-McKeown syndrome. 57 6 61
14564154 2003
4
New dysmorphic syndrome with choanal atresia in siblings. 6 57
1342861 1992
5
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. 57 61
17022072 2006
6
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 6
25913037 2015
7
RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi. 57
17022074 2006
8
The Dim protein family: from structure to splicing. 25
17558560 2007
9
The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. 25
16723661 2006
10
The Role of the U5 snRNP in Genetic Disorders and Cancer. 61
33584830 2021
11
Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings. 61
32187816 2020
12
Effects of Eradication of HCV on Cardiovascular Risk and Preclinical Atherosclerosis in HIV/HCV-Coinfected Patients. 61
31913996 2020
13
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells. 61
32735620 2020
14
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. 61
28905882 2017
15
Severe intellectual disability in a patient with Burn-McKeown syndrome. 61
28225383 2017
16
Burn-McKeown Syndrome 61
27413799 2016
17
Biomarkers for Allergen Immunotherapy: A "Panoromic" View. 61
26617233 2016
18
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
19
[Toxicological significance of biological markers]. 61
15584434 2004
20
BAX and BAK mediate p53-independent suppression of tumorigenesis. 61
12242152 2002
21
A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? 61
10319205 1999

Variations for Burn-Mckeown Syndrome

ClinVar genetic disease variations for Burn-Mckeown Syndrome:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TXNL4A NM_001305563.1(TXNL4A):c.-60-10914_-60-10880del Deletion Pathogenic 162208 GRCh37: 18:77748581-77748636
GRCh38: 18:79988581-79988636
2 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
3 TXNL4A NM_006701.5(TXNL4A):c.349G>T (p.Glu117Ter) SNV Pathogenic 162204 rs727502793 GRCh37: 18:77733765-77733765
GRCh38: 18:79973765-79973765
4 TXNL4A NM_006701.5(TXNL4A):c.37C>T (p.Gln13Ter) SNV Pathogenic 162205 rs727502794 GRCh37: 18:77748356-77748356
GRCh38: 18:79988356-79988356
5 TXNL4A NM_006701.5(TXNL4A):c.131del (p.Val44fs) Deletion Pathogenic 162206 rs727502795 GRCh37: 18:77748262-77748262
GRCh38: 18:79988262-79988262
6 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
7 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
8 TXNL4A NC_000018.9(TXNL4A):g.77748604_77748637del34 Deletion Pathogenic 190413 rs786205699 GRCh37: 18:77748604-77748637
GRCh38: 18:79988604-79988637
9 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
10 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
11 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
12 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
13 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
14 TXNL4A NM_001305563.2(TXNL4A):c.-60-10913_-60-10880del Deletion Pathogenic 162203 rs535089924 GRCh37: 18:77748581-77748614
GRCh38: 18:79988581-79988614
15 overlap with 17 genes NC_000018.9:g.73376178_78077248del4701071 Deletion Pathogenic 242603 GRCh37: 18:73376178-78077248
GRCh38:
16 overlap with 7 genes GRCh37/hg19 18q23(chr18:77421290-77904990)x1 copy number loss Pathogenic 253193 GRCh37: 18:77421290-77904990
GRCh38:
17 overlap with 10 genes NC_000018.9:g.76841645_78077248del1235604 Deletion Pathogenic 242602 GRCh37: 18:76841645-78077248
GRCh38:
18 overlap with 10 genes NC_000018.9:g.76854774_78077248del1222475 Deletion Pathogenic 242601 GRCh37: 18:76854774-78077248
GRCh38:
19 TXNL4A NM_006701.4(TXNL4A):c.258_429del172 (p.Asn87Alafs) Deletion Pathogenic 162207 GRCh37: 18:77733685-77737597
GRCh38: 18:79973685-79977597
20 POLR1A NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) SNV Pathogenic 203463 rs794729674 GRCh37: 2:86297230-86297230
GRCh38: 2:86070107-86070107
21 POLR1A NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) Deletion Pathogenic 203464 rs875989814 GRCh37: 2:86267606-86267606
GRCh38: 2:86040483-86040483
22 TXNL4A NM_006701.5(TXNL4A):c.153+3A>G SNV Pathogenic 253187 rs879255559 GRCh37: 18:77748237-77748237
GRCh38: 18:79988237-79988237
23 TXNL4A NM_006701.5(TXNL4A):c.154-959_257+638del Deletion Pathogenic 253188 GRCh37: 18:77736960-77738660
GRCh38: 18:79976960-79978660
24 TXNL4A NM_006701.2:c.Exon 3 deletion Deletion Pathogenic 253189 GRCh37:
GRCh38:
25 POLR1A NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) SNV Pathogenic 626284 rs1377622831 GRCh37: 2:86276114-86276114
GRCh38: 2:86048991-86048991
26 POLR1A NM_015425.6(POLR1A):c.1380+2T>G SNV Pathogenic 1032690 GRCh37: 2:86304980-86304980
GRCh38: 2:86077857-86077857
27 POLR1A NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro) SNV Uncertain significance 983035 GRCh37: 2:86292488-86292488
GRCh38: 2:86065365-86065365
28 POLR1A NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) SNV Uncertain significance 774163 rs142266408 GRCh37: 2:86302253-86302253
GRCh38: 2:86075130-86075130
29 POLR1A NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) SNV Uncertain significance 592105 rs1558788291 GRCh37: 2:86327120-86327120
GRCh38: 2:86099997-86099997
30 POLR1A NM_015425.6(POLR1A):c.4034+1G>T SNV Uncertain significance 1029398 GRCh37: 2:86265822-86265822
GRCh38: 2:86038699-86038699
31 TXNL4A NM_006701.5(TXNL4A):c.74T>A (p.Val25Glu) SNV Uncertain significance 1030130 GRCh37: 18:77748319-77748319
GRCh38: 18:79988319-79988319
32 POLR1A NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) SNV Likely benign 779225 rs146078741 GRCh37: 2:86317012-86317012
GRCh38: 2:86089889-86089889

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:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040

Pathways related to Burn-Mckeown Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
2
Show member pathways
12.52 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
3 10.89 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 EFTUD2

GO Terms for Burn-Mckeown Syndrome

Cellular components related to Burn-Mckeown Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.17 TXNL4A TSHZ1 SNRPB SNRNP40 SF3B4 PRPF6
2 nucleoplasm GO:0005654 10.1 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
3 nuclear speck GO:0016607 9.76 SNRNP40 PRPF6 PRPF4 EFTUD2
4 catalytic step 2 spliceosome GO:0071013 9.72 SNRPB SNRNP40 PRPF6 EFTUD2 DDX23
5 U5 snRNP GO:0005682 9.65 TXNL4A SNRPB SNRNP40 PRPF6 DDX23
6 U2-type precatalytic spliceosome GO:0071005 9.63 TXNL4A SNRPB SF3B4 PRPF6 PRPF4 EFTUD2
7 U2-type catalytic step 2 spliceosome GO:0071007 9.54 SNRPB SNRNP40 EFTUD2
8 U12-type spliceosomal complex GO:0005689 9.48 SNRPB SF3B4
9 U4/U6 x U5 tri-snRNP complex GO:0046540 9.43 TXNL4A SNRPB PRPF6 PRPF4 EFTUD2 DDX23
10 spliceosomal complex GO:0005681 9.23 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4

Biological processes related to Burn-Mckeown Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.86 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
2 RNA splicing GO:0008380 9.76 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
3 mRNA splicing, via spliceosome GO:0000398 9.56 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
4 positive regulation of gene expression, epigenetic GO:0045815 9.4 POLR1A ERCC6
5 transcription elongation from RNA polymerase I promoter GO:0006362 9.37 POLR1A ERCC6
6 spliceosomal complex assembly GO:0000245 9.32 TXNL4A PRPF6
7 RNA splicing, via transesterification reactions GO:0000375 9.1 TXNL4A SNRNP40 SF3B4 PRPF6 PRPF4 DDX23

Molecular functions related to Burn-Mckeown Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.1 SNRPB SNRNP40 SF3B4 PRPF6 EFTUD2 DDX23

Sources for Burn-Mckeown Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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