Details of Disease

General Information of Disease (ID: DISSUIIM)

Disease Name Vici syndrome
Synonyms
immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum; Dionisi Vici Sabetta Gambarara syndrome; VICIS; absent corpus callosum cataract immunodeficiency; immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum; Dionisi-Vici-Sabetta-Gambarara syndrome; immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; corpus callosum agenesis-cataract-immunodeficiency syndrome; Vici syndrome; absent corpus callosum-cataract-immunodeficiency syndrome
Definition
A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DISAEGPH: Immune system disorder
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISSUIIM: Vici syndrome
Disease Identifiers
MONDO ID
MONDO_0009452
MESH ID
C535566
UMLS CUI
C1855772
OMIM ID
242840
MedGen ID
340962
Orphanet ID
1493
SNOMED CT ID
719824001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAB7A TTF6WAQ Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EPGN OT3EG75W Strong Genetic Variation [2]
RAB7B OT60A0E9 Strong Biomarker [1]
EPG5 OT3P5HQD Definitive Autosomal recessive [3]
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References

1 The RBG-1-RBG-2 complex modulates autophagy activity by regulating lysosomal biogenesis and function in C. elegans.J Cell Sci. 2019 Oct 1;132(19):jcs234195. doi: 10.1242/jcs.234195.
2 Vici syndrome: a review.Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x.
3 Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102.