Information on CDG2C

Basic details

Name: Congenital disorder of glycosylation, type IIc | Acronym: CDG2C
Alt. names: Leukocyte adhesion deficiency, type II

Gene: SLC35C1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2001

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

OMIM: 266265

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Treatment with fucose has been described as effective in some individuals; Surveillance for and prompt treatment of infections may be beneficial; Awareness of coagulopathies may be beneficial in terms of medical management, especially in situations such as surgery. Hepatic-metabolized agents should be avoided. Refs. PMIDs: 1279426; 10590041; 11213799; 11326280; 11133780; 12116250; 21175687; 20301507

Management

Description of management option has not been reviewed yet.

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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	Autistic behavior	2 (99.9%)	0 (0.0%)
2	Brachydactyly	2 (99.9%)	0 (0.0%)
3	Bulbous nose	2 (99.9%)	0 (0.0%)
4	Coarse facial features	2 (99.9%)	0 (0.0%)
5	Delayed speech and language development	2 (99.9%)	0 (0.0%)
6	Global developmental delay	2 (99.9%)	0 (0.0%)
7	Infantile onset	2 (99.9%)	0 (0.0%)
8	Intellectual disability, severe	2 (99.9%)	0 (0.0%)
9	Prominent fingertip pads	2 (99.9%)	0 (0.0%)
10	Recurrent otitis media	2 (99.9%)	0 (0.0%)
11	Short foot	2 (99.9%)	0 (0.0%)
12	short stature	2 (99.9%)	0 (0.0%)
13	Small hand	2 (99.9%)	0 (0.0%)
14	Widow's peak	2 (99.9%)	0 (0.0%)
15	Anxiety	1 (50.0%)	1 (50.0%)
16	Autism	1 (50.0%)	1 (50.0%)
17	Bronchiolitis	1 (50.0%)	1 (50.0%)
18	Obsessive-compulsive behavior	1 (50.0%)	1 (50.0%)
19	Echolalia	1 (50.0%)	1 (50.0%)
20	Febrile seizure (within the age range of 3 months to 6 years)	1 (50.0%)	1 (50.0%)
21	Abnormal circulating amino acid concentration	0 (0.0%)	2 (99.9%)
22	Abnormal serum insulin-like growth factor 1 level	0 (0.0%)	2 (99.9%)
23	Aminoaciduria	0 (0.0%)	2 (99.9%)
24	Mucopolysacchariduria	0 (0.0%)	2 (99.9%)
25	Neutrophilia	0 (0.0%)	2 (99.9%)
26	Oligosacchariduria	0 (0.0%)	2 (99.9%)
27	Organic aciduria	0 (0.0%)	2 (99.9%)

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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.