Leukocyte adhesion deficiency type II
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LEUKOCYTE ADHESION DEFICIENCY, TYPE II SLC35C1-CDG LAD-II LAD2 RHS CDG2C CDGIIc CDG syndrome type IIc CDG IIc CDG-IIc rambam-hasharon syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 99843 |
| OMIM Id: |
266265
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| ICD-10: |
D84.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
234583001 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with epilepsy as a major feature
-Rare genetic disease -Rare neurologic disease Disorder of multiple glycosylation -Rare genetic disease Leukocyte adhesion deficiency -Rare genetic disease -Rare immune disease Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000704) | Periodontitis | 24 / 7739 | ||||
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(HPO:0000388) | Otitis media | 28 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001574) | Abnormality of the integument | 4 / 7739 | ||||
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(HPO:0005400) | Reduction of neutrophil motility | 1 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(OMIM) | Lewis a- and b- negative cells | 1 / 7739 | ||||
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(OMIM) | Neutrophilia, both basal and during infections | 1 / 7739 | ||||
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(OMIM) | Localized cellulitis | 1 / 7739 | ||||
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(OMIM) | Bombay (hh) blood phenotype | 1 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | 187 / 7739 | ||||
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(OMIM) | Absent sialyl-Lewis X ligand (SLeX) expression | 1 / 7739 | ||||
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(OMIM) | Red blood cells lack H- antigen | 1 / 7739 | ||||
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(OMIM) | Slightly reduced neutrophil adherence | 1 / 7739 | ||||
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(OMIM) | Absence of pus formation at site of infection | 1 / 7739 | ||||
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(OMIM) | Markedly reduced neutrophil motility | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Diagnosis OMIM |
- Prenatal Diagnosis Frydman et al. (1996) stated that the mother in 1 of the families reported by Frydman et al. (1992) had 2 subsequent pregnancies which were monitored during midtrimester by cordocentesis. One fetus expressed ... |
| Clinical Description OMIM |
Frydman et al. (1992) reported 2 ostensibly unrelated Arab Moslem boys, each born of a consanguineous mating, with a distinctive syndrome comprising unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with ... |
| Molecular genetics OMIM |
In fibroblasts derived from a patient with LAD2 (Marquardt et al., 1999), Luhn et al. (2001) and Lubke et al. (2001) independently identified a homozygous mutation in the SLC35C1 gene (R147C; 605881.0001). In 2 other patients with LAD2 ... |