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BOPS
MCID: BHR002
MIFTS: 45
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Bohring-Opitz Syndrome (BOPS)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Bohring-Opitz Syndrome:
Characteristics:Orphanet epidemiological data:59
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide); OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
all reported cases have occurred de novo death often occurs in childhood HPO:32
bohring-opitz syndrome:
Mortality/Aging death in infancy Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
34
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OMIM
:
57
Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints (summary by Hoischen et al., 2011).
See also the C syndrome (211750), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene (606037) on chromosome 3q13. (605039)
MalaCards based summary : Bohring-Opitz Syndrome, also known as c-like syndrome, is related to buschke-ollendorff syndrome and branchiootic syndrome 1, and has symptoms including seizures and ulnar deviation of the wrist. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (ASXL Transcriptional Regulator 1). Affiliated tissues include brain, pancreas and kidney, and related phenotypes are hypertelorism and low-set ears Genetics Home Reference : 25 Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body. NIH Rare Diseases : 53 Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene. The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically. UniProtKB/Swiss-Prot : 75 Bohring-Opitz syndrome: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.
GeneReviews:
NBK481833
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:605039Human phenotypes related to Bohring-Opitz Syndrome:59 32 (show top 50) (show all 93)
UMLS symptoms related to Bohring-Opitz Syndrome:seizures, ulnar deviation of the wrist |
Interventional clinical trials:
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MalaCards organs/tissues related to Bohring-Opitz Syndrome:41
Brain,
Pancreas,
Kidney,
Heart,
Eye,
Lung
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Articles related to Bohring-Opitz Syndrome:(show all 18)
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Genes related to Bohring-Opitz Syndrome (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bohring-Opitz Syndrome:6 (show top 50) (show all 222)
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Search
GEO
for disease gene expression data for Bohring-Opitz Syndrome.
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Cellular components related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:
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