Aliases & Classifications for Serac1 Deficiency

MalaCards integrated aliases for Serac1 Deficiency:

Name: Serac1 Deficiency 25

Summaries for Serac1 Deficiency

MalaCards based summary : Serac1 Deficiency is related to branchiootic syndrome 1 and hereditary spastic paraplegia. An important gene associated with Serac1 Deficiency is SERAC1 (Serine Active Site Containing 1). Affiliated tissues include skin.

GeneReviews: NBK195853

Related Diseases for Serac1 Deficiency

Diseases related to Serac1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.1
2 hereditary spastic paraplegia 10.1
3 paraplegia 10.1
4 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.9
5 3-methylglutaconic aciduria 9.9
6 bilirubin metabolic disorder 9.9
7 liver disease 9.9
8 dystonia 9.9
9 encephalopathy 9.9
10 hypotonia 9.9
11 spasticity 9.9

Graphical network of the top 20 diseases related to Serac1 Deficiency:



Diseases related to Serac1 Deficiency

Symptoms & Phenotypes for Serac1 Deficiency

Drugs & Therapeutics for Serac1 Deficiency

Search Clinical Trials , NIH Clinical Center for Serac1 Deficiency

Genetic Tests for Serac1 Deficiency

Anatomical Context for Serac1 Deficiency

MalaCards organs/tissues related to Serac1 Deficiency:

40
Skin

Publications for Serac1 Deficiency

Articles related to Serac1 Deficiency:

(show all 19)
# Title Authors PMID Year
1
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. 25 61
28916646 2018
2
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. 25
32305867 2020
3
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients. 25
30114719 2018
4
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. 25
29686941 2018
5
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 25
29205472 2017
6
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
7
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. 25
28599323 2017
8
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 25
27640307 2016
9
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. 25
25642805 2015
10
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. 25
23355087 2013
11
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 25
23296368 2013
12
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. 25
23707711 2013
13
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. 25
23918762 2013
14
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 25
22683713 2012
15
The 3-methylglutaconic acidurias: what's new? 25
20882351 2012
16
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 25
20855850 2010
17
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. 25
19015156 2009
18
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. 25
16527507 2006
19
SERAC1 Deficiency 61
24741715 2014

Variations for Serac1 Deficiency

Expression for Serac1 Deficiency

Search GEO for disease gene expression data for Serac1 Deficiency.

Pathways for Serac1 Deficiency

GO Terms for Serac1 Deficiency

Sources for Serac1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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