Attenuated Chédiak-Higashi syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Atypical Chédiak-Higashi syndrome
Number of Symptoms 15
OrphanetNr: 352723
OMIM Id:
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease
 -Rare genetic disease
Rare hereditary disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Rare neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis Very frequent [Orphanet] 85 / 7739
2
 (HPO:0000225) Gingival bleeding Very frequent [Orphanet] 28 / 7739
3
 (HPO:0001107) Ocular albinism Very frequent [Orphanet] 40 / 7739
4
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
5
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
6
 (HPO:0002071) Abnormality of extrapyramidal motor function Occasional [Orphanet] 76 / 7739
7
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
8
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
9
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
10
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
11
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
12
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
13
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
14
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: