Details of Disease | DrugMAP

General Information of Disease (ID: DIS1DZV4)

Disease Name	Bohring-Opitz syndrome
Synonyms	BOHRING-Opitz syndrome; BOPS; Oberklaid-Danks syndrome; C-like syndrome; Opitz trigonocephaly-like syndrome; Bos syndrome; Bohring-Opitz syndrome; Bohring syndrome
Definition	Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS1DZV4: Bohring-Opitz syndrome
Disease Identifiers	MONDO ID MONDO_0011510 MESH ID C537419 UMLS CUI C0796232 OMIM ID 605039 MedGen ID 208678 Orphanet ID 97297 SNOMED CT ID 720565000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD96	TT83C4X	Strong	Genetic Variation	[1]
CRLF1	TT6YF5K	Strong	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLHL7	OT2OF1O8	Strong	Genetic Variation	[2]
ASXL1	OTX931AW	Definitive	Autosomal dominant	[3]
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References

1	Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27.
2	Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.Eur J Med Genet. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.