MCID: ATT023
MIFTS: 13

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 58
Atypical Chediak-Higashi Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
attenuated chediak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
5 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
6 gingival bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000225
7 generalized hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007513
8 epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000421
9 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
10 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
11 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
12 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
13 abnormality of movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0100022
14 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
15 incoordination 58 31 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:

40
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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