Congenital disorder of glycosylation, type iic

Preferred Label : Congenital disorder of glycosylation, type iic;

Symbol : CDG2C;

CISMeF acronym : CDG IIC; CDG2C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RHS; Rambam-hasharon syndrome; CDGIIc; LAD2; Leukocyte adhesion deficiency, type II; Cdg iic;

Description : Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996). Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 35, member C1 gene (SLC35C1, 605881.0001);

Laboratory abnormalities : Neutrophilia, both basal and during infections;

Prefixed ID : #266265;

Details

Origin ID

266265;

UMLS CUI

C0398739;

Automatic exact mappings (from CISMeF team)
- ALG6-CDG [ORDO Disease]
- Rapp-Hodgkin syndrome [DO Concept]
- Rh Negative Blood Group [NCIt concept]
- Rh Positive Blood Group [NCIt concept]
- Rh:Type:Pt:Bld:Nom: [LOINC code]
- Rhodium [NCIt concept]
- TP63 wt Allele [NCIt concept]
- rehabilitation [MeSH Descriptor]
- rhinal sulcus [UBERON concept]
Broader ORDO disease(s)
- Leukocyte adhesion deficiency type II [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital disorder of glycosylation, type 2C [MeSH concept]
- Leukocyte Adhesion Deficiency Type 2 [NCIt concept]
- Leukocyte adhesion deficiency - type 2 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 2 [ICD-11 More detail]
- Leukocyte adhesion deficiency type II [ORDO Disease]
- congenital disorder of glycosylation type IIc [DO Concept]
- congenital disorder of glycosylation, type 2C [MeSH Supplementary Concept]
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]
DO Cross reference
- congenital disorder of glycosylation type IIc [DO Concept]
False automatic mappings
- Rapp-Hodgkin syndrome [ORDO Disease]
Genes related to phenotype
- Solute carrier family 35, member c1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the integument [HPO term]
- Anxiety [HPO term]
- Autism [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Bronchiolitis [HPO term]
- Bulbous nose [HPO term]
- Cellulitis [HPO term]
- Cerebral cortical atrophy [HPO term]
- Coarse facial features [HPO term]
- Echolalia [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Neutrophilia [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Periodontitis [HPO term]
- Pneumonia [HPO term]
- Recurrent otitis media [HPO term]
- Reduction of neutrophil motility [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Leukocyte adhesion deficiency [ORDO Disease]
- Leukocyte adhesion deficiency type II [ORDO Disease]
See also inter- (CISMeF)
- Leukocyte adhesion deficiency type I [PASCAL descriptor]
- Leukocyte adhesion deficiency type II [PASCAL descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type 2C [MeSH concept]
- Leukocyte Adhesion Deficiency Type 2 [NCIt concept]
- Leukocyte adhesion deficiency - type 2 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 2 [ICD-11 More detail]
- Leukocyte adhesion deficiency type II [ORDO Disease]
- Leukocyte adhesion deficiency type II [MedDRA LLT]
- congenital disorder of glycosylation type IIc [DO Concept]
- congenital disorder of glycosylation, type 2C [MeSH Supplementary Concept]
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]

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