SQSD
MCID: SQL002
MIFTS: 10

Squalene Synthase Deficiency (SQSD)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Squalene Synthase Deficiency

MalaCards integrated aliases for Squalene Synthase Deficiency:

Name: Squalene Synthase Deficiency 58 76 6
Neurodevelopmental Disorder with Low Cholesterol and Abnormal Urine Organic Acids 58 76
Sqsd 58 76

Classifications:



External Ids:

OMIM 58 618156
MeSH 45 D008661

Summaries for Squalene Synthase Deficiency

OMIM : 58 Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families. (618156)

MalaCards based summary : Squalene Synthase Deficiency, is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids. An important gene associated with Squalene Synthase Deficiency is FDFT1 (Farnesyl-Diphosphate Farnesyltransferase 1). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 76 Squalene synthase deficiency: An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids.

Related Diseases for Squalene Synthase Deficiency

Symptoms & Phenotypes for Squalene Synthase Deficiency

Clinical features from OMIM:

618156

Drugs & Therapeutics for Squalene Synthase Deficiency

Search Clinical Trials , NIH Clinical Center for Squalene Synthase Deficiency

Genetic Tests for Squalene Synthase Deficiency

Anatomical Context for Squalene Synthase Deficiency

MalaCards organs/tissues related to Squalene Synthase Deficiency:

42
Brain

Publications for Squalene Synthase Deficiency

Variations for Squalene Synthase Deficiency

ClinVar genetic disease variations for Squalene Synthase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FDFT1 FDFT1, 120-KB DEL deletion Pathogenic
2 FDFT1 NM_001287742.1(FDFT1): c.880-24_880-23delinsAG indel Likely pathogenic GRCh38 Chromosome 8, 11831494: 11831495
3 FDFT1 NM_001287742.1(FDFT1): c.880-24_880-23delinsAG indel Likely pathogenic GRCh37 Chromosome 8, 11689003: 11689004
4 FDFT1 NM_001287742.1(FDFT1): c.-75+131_-75+146del deletion Likely pathogenic GRCh37 Chromosome 8, 11660095: 11660110
5 FDFT1 NM_001287742.1(FDFT1): c.-75+131_-75+146del deletion Likely pathogenic GRCh38 Chromosome 8, 11802586: 11802601
6 FDFT1 NC_000008.11: g.11810251_11930234del119984 deletion Likely pathogenic GRCh37 Chromosome 8, 11667760: 11787743
7 FDFT1 NC_000008.11: g.11810251_11930234del119984 deletion Likely pathogenic GRCh38 Chromosome 8, 11810251: 11930234

Expression for Squalene Synthase Deficiency

Search GEO for disease gene expression data for Squalene Synthase Deficiency.

Pathways for Squalene Synthase Deficiency

GO Terms for Squalene Synthase Deficiency

Sources for Squalene Synthase Deficiency

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
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