SQSD
MCID: SQL002
MIFTS: 9

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 57 6
Neurodevelopmental Disorder with Low Cholesterol and Abnormal Urine Organic Acids 57
Sqsd 57

Classifications:



External Ids:

OMIM 57 618156

Summaries for Squalene Synthase Deficiency

OMIM : 57 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.

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:

41
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 Pathogenic
3 FDFT1 NM_001287742.1(FDFT1): c.-75+131_-75+146del deletion Pathogenic GRCh37 Chromosome 8, 11660095: 11660110
4 FDFT1 NM_001287742.1(FDFT1): c.-75+131_-75+146del deletion Pathogenic GRCh38 Chromosome 8, 11802586: 11802601

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
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
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37 KEGG
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40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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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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