ORPHA:99843
Leukocyte adhesion deficiency type II
Synonyms: CDG syndrome type IIc · CDG-IIc · CDG2C · LAD-II · Rambam-Hasharon syndrome · SLC35C1-CDG
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A form of leukocyte adhesion deficiency (LAD) characterized by recurrent bacterial infections, severe growth delay, and severe intellectual deficit.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukocyte adhesion deficiency type II | CDG syndrome type IIc · CDG-IIc · CDG2C · LAD-II · Rambam-Hasharon syndrome · SLC35C1-CDG |
| fr | Déficit d'adhésion leucocytaire type II | CDG2C · DAL-II · Déficit d'adhérence des leucocytes type II · Déficit d'adhérence leucocytaire type II · Déficit d'adhésion des leucocytes type II · LAD-II · SLC35C1-CDG · Syndrome CDG type IIc · Syndrome de Rambam-Hasharon · CDG-IIc |
| de | Leukozytenadhäsionsdefekt Typ II | CDG IIc · CDG-Syndrom Typ IIc · CDG2C · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIc · LAD-II · Rambam-Hasharon-Syndrom · SLC35C1-CDG |
| es | Deficiencia de adhesión leucocitaria tipo II | CDG-IIc · CDG2C · LAD-II · SLC35C1-CDG · Síndrome CDG tipo IIc · Síndrome de Rambam-Hasharon |
| it | Deficit di adesione leucocitaria, tipo II | CDG-IIc · CDG2C · LAD-II · SLC35C1-CDG · Sindrome CDG, tipo IIc · Sindrome di Rambam-Hasharon |
| nl | Deficiëntie van leukocytenadhesie type II | CDG-IIc · CDG-syndroom type IIc · CDG2C · Congenitale defecten van de glycosylering type IIc · Congenitale glycosylatiestoornis type IIc · LAD-II · Leukocytenadhesiedeficiëntie type II · SLC35C1-CDG · Syndroom van Rambam-Hasharon |
| pt | Deficiência de adesão leucocitária tipo II | |
| pl | Niedobór adhezji leukocytów typu II | CDG2C · LAD-II · CDG-IIc · SLC35C1-CDG · Zespół CDG typu IIc · Zespół Rambama i Hasharona |
| cs | Deficit adheze leukocytů, typ II | CDG syndrom, typ IIc · CDG-IIc · CDG2C · LAD-II · Rambam-Hasharon syndrom · SLC35C1-CDG |
| uk | Дефіцит адгезії лейкоцитів, тип II | Синдром CDG, тип IIc · CDG2C · CDG-IIc · LAD-ІІ · Синдром Рамбама-Гашарона · SLC35C1-CDG |
| zh | 白细胞粘附缺陷2型 | Rambam-Hasharon综合征 |
| tr | Lökosit adezyon eksikliği tip II | CDG2C · LAD-II · CDG-IIc · SLC35C1-CDG · CDG sendromu tip IIc · Rambam-Hasharon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266265 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0009953 | E | validated | |
| MeSH | C535755 | E | validated | |
| UMLS | C0398739 | E | validated | |
| GARD | 4634 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:2968Leukocyte adhesion deficiency
rare genetic diseases; rare ophthalmic disorders; rare immunological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC35C1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20197 | ENSG00000181830 | 605881 | 11p11.2 | solute carrier family 35 member C1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24403049[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24403049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
58 annotations · validated 2020-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0410292 | Abnormal isohemagglutinin level | |
| HP:0001903 | Anemia | |
| HP:0000280 | Coarse facial features | |
| HP:0001508 | Failure to thrive | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0011897 | Neutrophilia | |
| HP:0002719 | Recurrent infections | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0002059 | Cerebral atrophy | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001935 | Microcytic anemia | |
| HP:0001954 | Recurrent fever | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0011229 | Broad eyebrow | |
| HP:0001169 | Broad palm | |
| HP:0002028 | Chronic diarrhea | |
| HP:0007041 | Chronic lymphocytic meningitis | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002002 | Deep philtrum | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0020045 | Esodeviation | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000212 | Gingival overgrowth | |
| HP:0002240 | Hepatomegaly | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0031629 | Impaired tandem gait | |
| HP:0000491 | Keratitis | |
| HP:0009826 | Limb undergrowth | |
| HP:0000527 | Long eyelashes | |
| HP:0011341 | Long upper lip | |
| HP:0000294 | Low anterior hairline | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0000189 | Narrow palate | |
| HP:0001845 | Overlapping toe | |
| HP:0100540 | Palpebral edema | |
| HP:0006480 | Premature loss of teeth | |
| HP:0010808 | Protruding tongue | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0100699 | Scarring | |
| HP:0000166 | Severe periodontitis | |
| HP:0200037 | Skin vesicle | |
| HP:0000385 | Small earlobe | |
| HP:0001537 | Umbilical hernia | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20099014[PMID]_20301507[PMID]_31530991[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99843
- This record as JSON: /data/d/99843.json