Details of Disease

General Information of Disease (ID: DISKCSI9)

Disease Name Abruzzo-Erickson syndrome
Synonyms CHARGE like syndrome X-linked; CHARGE-like syndrome, X-linked; ABERS; Abruzzo-Erickson syndrome; CHARGE-like syndrome; cleft palate-coloboma-deafness syndrome
Definition
Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISKCSI9: Abruzzo-Erickson syndrome
Disease Identifiers
MONDO ID
MONDO_0010554
MESH ID
C535559
UMLS CUI
C1844862
OMIM ID
302905
MedGen ID
375529
Orphanet ID
921
SNOMED CT ID
718574003

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
TBX22 OTT1RM26 Supportive X-linked [1]
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References

1 X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.