MCID: ATT012
MIFTS: 15

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 60
Atypical Chédiak-Higashi Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
attenuated chédiak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Attenuated Chédiak-Higashi Syndrome

MalaCards based summary : Attenuated Chédiak-Higashi Syndrome, also known as atypical chédiak-higashi syndrome, is related to chediak-higashi syndrome. An important gene associated with Attenuated Chédiak-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 Chédiak-Higashi Syndrome

Diseases related to Attenuated Chédiak-Higashi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chediak-higashi syndrome 10.3

Symptoms & Phenotypes for Attenuated Chédiak-Higashi Syndrome

Human phenotypes related to Attenuated Chédiak-Higashi Syndrome:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
3 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
4 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
5 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
6 generalized hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007513
7 epistaxis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000421
8 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
9 gingival bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0000225
10 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
11 ocular albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001107
12 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
13 abnormality of movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0100022
14 abnormality of extrapyramidal motor function 60 33 occasional (7.5%) Occasional (29-5%) HP:0002071
15 incoordination 60 33 occasional (7.5%) Occasional (29-5%) HP:0002311

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:

42
Skin

Publications for Attenuated Chédiak-Higashi Syndrome

Articles related to Attenuated Chédiak-Higashi Syndrome:

# Title Authors Year
1
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. ( 23521865 )
2013

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....