BMKS
MCID: BRN062
MIFTS: 30
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Burn-Mckeown Syndrome (BMKS)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Smell/Taste diseases
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MalaCards integrated aliases for Burn-Mckeown Syndrome:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Eye diseases Ear diseases Smell/Taste diseases |
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 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 : 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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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 via clinical synopsis from OMIM:57Clinical features from OMIM:608572Human phenotypes related to Burn-Mckeown Syndrome:32 (show all 26)
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MalaCards organs/tissues related to Burn-Mckeown Syndrome:41
Heart,
Skin,
Kidney,
Eye
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Articles related to Burn-Mckeown Syndrome:
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ClinVar genetic disease variations for Burn-Mckeown Syndrome:6 (show all 23)
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Search
GEO
for disease gene expression data for Burn-Mckeown Syndrome.
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Pathways related to Burn-Mckeown Syndrome according to KEGG:37
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