MCID: ATT012
MIFTS: 14

Attenuated Chédiak-Higashi Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Attenuated Chédiak-Higashi Syndrome

MalaCards integrated aliases for Attenuated Chédiak-Higashi Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Attenuated Chédiak-Higashi Syndrome

MalaCards based summary : Attenuated Chédiak-Higashi Syndrome, is also known as atypical chédiak-higashi syndrome. An important gene associated with Attenuated Chédiak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator). Affiliated tissues include skin, and related phenotypes are gingival bleeding and epistaxis

Related Diseases for Attenuated Chédiak-Higashi Syndrome

Symptoms & Phenotypes for Attenuated Chédiak-Higashi Syndrome

Human phenotypes related to Attenuated Chédiak-Higashi Syndrome:

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

Drugs & Therapeutics for Attenuated Chédiak-Higashi Syndrome

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

Genetic Tests for Attenuated Chédiak-Higashi Syndrome

Anatomical Context for Attenuated Chédiak-Higashi Syndrome

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

41
Skin

Publications for Attenuated Chédiak-Higashi Syndrome

Variations for Attenuated Chédiak-Higashi Syndrome

Expression for Attenuated Chédiak-Higashi Syndrome

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

Pathways for Attenuated Chédiak-Higashi Syndrome

GO Terms for Attenuated Chédiak-Higashi Syndrome

Sources for Attenuated Chédiak-Higashi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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