Details of Disease

General Information of Disease (ID: DISZDFEE)

Disease Name Craniolenticulosutural dysplasia
Synonyms CLSD; Boyadjiev-Jabs syndrome; cranio-lenticulo-sutural dysplasia, CLSD; craniolenticulosutural dysplasia
Definition
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Disease Hierarchy
DISYKSRF: Genetic disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISZDFEE: Craniolenticulosutural dysplasia
Disease Identifiers
MONDO ID
MONDO_0011911
MESH ID
C564332
UMLS CUI
C1843042
OMIM ID
607812
MedGen ID
334671
Orphanet ID
50814
SNOMED CT ID
725100001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SEC23A OTBRNIJ3 Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet. 2006 Oct;38(10):1192-7. doi: 10.1038/ng1876. Epub 2006 Sep 17.