Details of Disease | DrugMAP

General Information of Disease (ID: DISYHBB7)

Disease Name	Leukocyte adhesion deficiency type II
Synonyms	leukocyte adhesion deficiency, type 2; congenital disorder of glycosylation, type IIc; congenital disorder of glycosylation type IIC; CDG 2C; SLC35C1-CDG (CDG-IIc); CDGIIc; sialyl-Lewis X defect; CDG IIc; CDG2C; leukocyte adhesion deficiency, type II; RHS; lad-II; lad-type II; SLC35C1-CDG; Rambam-Hasharon syndrome; leukocyte adhesion deficiency type II; LAD2; CDG-IIc; CDG syndrome type IIc; leukocyte adhesion deficiency type 2
Definition	Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
Disease Hierarchy	DISAWDAB: Congenital hematological disorder DISO85MT: Disorder of multiple glycosylation DISEJ9VG: Leukocyte adhesion deficiency DISEMWE1: Congenital disorder of glycosylation type II DISYHBB7: Leukocyte adhesion deficiency type II
Disease Identifiers	MONDO ID MONDO_0009953 MESH ID C535755 UMLS CUI C0398739 OMIM ID 266265 MedGen ID 96022 Orphanet ID 99843 SNOMED CT ID 234583001

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
ITGB2	TTIJWR7	Strong	Genetic Variation	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35C1	DT3LZWR	Strong	Biomarker	[2]
SLC35C1	DT3LZWR	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Genetic Variation	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLD	OT378CU9	Strong	Genetic Variation	[1]
LAD1	OT6YGTVX	Strong	Genetic Variation	[1]
SLC35C1	OTM543US	Definitive	Autosomal recessive	[3]
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References

1	Congenital disorders involving defective N-glycosylation of proteins.Cell Mol Life Sci. 2001 Jul;58(8):1085-104. doi: 10.1007/PL00000923.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3	The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet. 2001 May;28(1):69-72. doi: 10.1038/ng0501-69.
4	Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.Am J Med Genet. 2001 Sep 15;103(1):75-80. doi: 10.1002/1096-8628(20010915)103:1<75::aid-ajmg1502>3.0.co;2-r.