Information on IMD59

Basic details

Name: Immunodeficiency 59 and hypoglycemia | Acronym: IMD59
Alt. names:

Gene: HYOU1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2017

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

OMIM: 233600

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

The condition has been described as involving recurrent infection, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Abnormal gluocose metabolism (resulting in hypoglycemia) has been described, and awareness may allow prompt management. Refs. PMIDs: 27913302

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	Unreported
1	Acne inversa	1 (99.9%)	0 (0.0%)
2	Arteritis	1 (99.9%)	0 (0.0%)
3	Chronic diarrhea	1 (99.9%)	0 (0.0%)
4	Absent ab-response to pneumococcal polysaccharide vaccine	1 (99.9%)	0 (0.0%)
5	Decreased proportion of switched memory B cells	1 (99.9%)	0 (0.0%)
6	Hepatomegaly	1 (99.9%)	0 (0.0%)
7	Herpes simplex encephalitis	1 (99.9%)	0 (0.0%)
8	High anterior hairline	1 (99.9%)	0 (0.0%)
9	High palate	1 (99.9%)	0 (0.0%)
10	Hypoglycemia	1 (99.9%)	0 (0.0%)
11	Immunodeficiency	1 (99.9%)	0 (0.0%)
12	Malabsorption	1 (99.9%)	0 (0.0%)
13	Micrognathia	1 (99.9%)	0 (0.0%)
14	Narrow face	1 (99.9%)	0 (0.0%)
15	Narrow nose	1 (99.9%)	0 (0.0%)
16	Neonatal onset	1 (99.9%)	0 (0.0%)
17	Oval face	1 (99.9%)	0 (0.0%)
18	Pectus carinatum	1 (99.9%)	0 (0.0%)
19	Prolonged neonatal jaundice	1 (99.9%)	0 (0.0%)
20	Recurrent aphthous stomatitis	1 (99.9%)	0 (0.0%)
21	Recurrent lower respiratory tract infections	1 (99.9%)	0 (0.0%)
22	Skin infections	1 (99.9%)	0 (0.0%)
23	Recurrent upper respiratory tract infection	1 (99.9%)	0 (0.0%)
24	Septicaemia	1 (99.9%)	0 (0.0%)
25	short stature	1 (99.9%)	0 (0.0%)
26	Slender finger	1 (99.9%)	0 (0.0%)
27	Wide nasal bridge	1 (99.9%)	0 (0.0%)
28	Hypogammaglobulinemia	0 (0.0%)	1 (99.9%)

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

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.