MCID: ATT023
MIFTS: 10

Attenuated Chediak-Higashi Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Attenuated Chediak-Higashi Syndrome

MalaCards integrated aliases for Attenuated Chediak-Higashi Syndrome:

Name: Attenuated Chediak-Higashi Syndrome 59
Atypical Chediak-Higashi Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
attenuated chediak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 E70.3
Orphanet 59 ORPHA352723

Summaries for Attenuated Chediak-Higashi Syndrome

MalaCards based summary : Attenuated Chediak-Higashi Syndrome, is also known as atypical chediak-higashi syndrome. An important gene associated with Attenuated Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator). Affiliated tissues include skin, and related phenotypes are intellectual disability and recurrent respiratory infections

Related Diseases for Attenuated Chediak-Higashi Syndrome

Symptoms & Phenotypes for Attenuated Chediak-Higashi Syndrome

Human phenotypes related to Attenuated Chediak-Higashi Syndrome:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
3 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
4 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
5 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
6 gingival bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000225
7 generalized hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007513
8 epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000421
9 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
10 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
11 ocular albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001107
12 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
13 abnormality of movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0100022
14 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
15 incoordination 59 32 occasional (7.5%) Occasional (29-5%) HP:0002311

Drugs & Therapeutics for Attenuated Chediak-Higashi Syndrome

Search Clinical Trials , NIH Clinical Center for Attenuated Chediak-Higashi Syndrome

Genetic Tests for Attenuated Chediak-Higashi Syndrome

Anatomical Context for Attenuated Chediak-Higashi Syndrome

MalaCards organs/tissues related to Attenuated Chediak-Higashi Syndrome:

41
Skin

Publications for Attenuated Chediak-Higashi Syndrome

Variations for Attenuated Chediak-Higashi Syndrome

Expression for Attenuated Chediak-Higashi Syndrome

Search GEO for disease gene expression data for Attenuated Chediak-Higashi Syndrome.

Pathways for Attenuated Chediak-Higashi Syndrome

GO Terms for Attenuated Chediak-Higashi Syndrome

Sources for Attenuated Chediak-Higashi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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