MCID: SCK023
MIFTS: 14

Seckel Syndrome Type 1 malady

Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Seckel Syndrome Type 1

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Sources:
48OMIM, 34MalaCards
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MalaCards: Seckel Syndrome Type 1, also known as seckel syndrome 1, is related to seckel syndrome. An important gene associated with Seckel Syndrome Type 1 is ATR (ataxia telangiectasia and Rad3 related).

Description from OMIM:48 210600

Aliases & Classifications for Seckel Syndrome Type 1

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Sources:
21GeneTests, 48OMIM
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Classifications:



Aliases & Descriptions:

seckel syndrome type 1 21
seckel syndrome 1 48


Related Diseases for Seckel Syndrome Type 1

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Seckel Syndrome Type 8 family:

Seckel Syndrome seckel syndrome type 1
Seckel Syndrome Type 4 Seckel Syndrome Type 5
Seckel Syndrome Type 2 Seckel Syndrome Type 6
Seckel Syndrome 3 Seckel Syndrome 7

Diseases related to Seckel Syndrome Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome10.2

Symptoms for Seckel Syndrome Type 1

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

210600

Clinical features from OMIM:

210600

Drugs & Therapeutics for Seckel Syndrome Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Seckel Syndrome Type 1

Drug clinical trials:

Search ClinicalTrials for Seckel Syndrome Type 1

Search NIH Clinical Center for Seckel Syndrome Type 1

Search CenterWatch for Seckel Syndrome Type 1

Genetic Tests for Seckel Syndrome Type 1

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21GeneTests
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Genetic tests related to Seckel Syndrome Type 1:

id Genetic test Affiliating Genes
1 Seckel Syndrome Type 121 ATR

Anatomical Context for Seckel Syndrome Type 1

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Animal Models for Seckel Syndrome Type 1 or affiliated genes

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Publications for Seckel Syndrome Type 1

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Variations for Seckel Syndrome Type 1

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Seckel Syndrome Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)single nucleotide variantPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
2ATRNM_001184.3(ATR): c.2022A> G (p.Gly674=)single nucleotide variantPathogenicGRCh37Chr 3, 142275281: 142275281

Expression for genes affiliated with Seckel Syndrome Type 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Seckel Syndrome Type 1

Search GEO for disease gene expression data for Seckel Syndrome Type 1.

Pathways for genes affiliated with Seckel Syndrome Type 1

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Compounds for genes affiliated with Seckel Syndrome Type 1

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GO Terms for genes affiliated with Seckel Syndrome Type 1

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Products for genes affiliated with Seckel Syndrome Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Seckel Syndrome Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet