Leukocyte adhesion deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LAD
Number of Symptoms 33
OrphanetNr: 2968
OMIM Id: 116920
266265
612840
ICD-10: D84.8
UMLs: C0242597
MeSH: D018370
MedDRA:
Snomed: 77358003

Prevalence, inheritance and age of onset:

Prevalence: < 350 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Functional neutrophil defect
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
2
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
3
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
4
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
5
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
6
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
10
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
11
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
12
 (HPO:0000704) Periodontitis 24 / 7739
13
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
14
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
16
 (HPO:0000230) Gingivitis 31 / 7739
17
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
18
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
19
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
20
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
21
 (HPO:0005224) Rectal abscess 10 / 7739
22
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0001974) Leukocytosis Common [HPO:probinson] 33 / 7739
25
 (HPO:0001877) Abnormality of erythrocytes Very frequent [Orphanet] 18 / 7739
26
 (HPO:0001881) Abnormality of leukocytes Very frequent [Orphanet] 6 / 7739
27
 (HPO:0007499) Recurrent staphylococcal infections 3 / 7739
28
 (HPO:0005420) Recurrent gram-negative bacterial infections 1 / 7739
29
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
30
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
31
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
32
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: