Information on VODI

Basic details

Name: Hepatic venoocclusive disease with immunodeficiency | Acronym: VODI
Alt. names:

Gene: SP110 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2006

Last updated on: 2023-02-28 16:41:18 by

OMIM: 235550

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Mortality is high if the condition is unrecognized; interventions include intravenous immunoglobulin and infectious prophylaxis (Pneumocystis jerovici). Refs. PMIDs: 16648851; 17510920; 22621957; 22982295

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.