MCID: HPP002
MIFTS: 7

Huppke-Brendel Syndrome

Aliases & Classifications for Huppke-Brendel Syndrome

MalaCards integrated aliases for Huppke-Brendel Syndrome:

Name: Huppke-Brendel Syndrome 24

Summaries for Huppke-Brendel Syndrome

MalaCards based summary : Huppke-Brendel Syndrome is related to cerebellar hypoplasia and autosomal recessive disease. An important gene associated with Huppke-Brendel Syndrome is SLC33A1 (Solute Carrier Family 33 Member 1).

GeneReviews: NBK542334

Related Diseases for Huppke-Brendel Syndrome

Diseases related to Huppke-Brendel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.6
2 autosomal recessive disease 10.5
3 scoliosis 10.5
4 sensorineural hearing loss 10.5
5 hypogonadism 10.5
6 hypogonadotropism 10.5
7 cataract 10.5
8 hypotonia 10.5

Graphical network of the top 20 diseases related to Huppke-Brendel Syndrome:



Diseases related to Huppke-Brendel Syndrome

Symptoms & Phenotypes for Huppke-Brendel Syndrome

Drugs & Therapeutics for Huppke-Brendel Syndrome

Search Clinical Trials , NIH Clinical Center for Huppke-Brendel Syndrome

Genetic Tests for Huppke-Brendel Syndrome

Anatomical Context for Huppke-Brendel Syndrome

Publications for Huppke-Brendel Syndrome

Articles related to Huppke-Brendel Syndrome:

# Title Authors PMID Year
1
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1. 38 4
27306358 2016
2
SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway. 4
22787145 2012
3
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 4
22243965 2012
4
AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability. 4
20826464 2010
5
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). 4
19061983 2008
6
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. 4
15902551 2005
7
Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter. 4
9096318 1997
8
Huppke-Brendel Syndrome 38
31194315 2019
9
Classification and differential diagnosis of Wilson's disease. 38
31179300 2019
10
Inborn errors of copper metabolism. 38
23622398 2013

Variations for Huppke-Brendel Syndrome

Expression for Huppke-Brendel Syndrome

Search GEO for disease gene expression data for Huppke-Brendel Syndrome.

Pathways for Huppke-Brendel Syndrome

GO Terms for Huppke-Brendel Syndrome

Sources for Huppke-Brendel 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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