MCID: SCK023
MIFTS: 14

Seckel Syndrome Type 1 malady

Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Seckel Syndrome Type 1

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Sources:
47OMIM, 33MalaCards
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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:47 210600

Aliases & Classifications for Seckel Syndrome Type 1

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Sources:
20GeneTests, 47OMIM
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Classifications:



Aliases & Descriptions:

seckel syndrome type 1 20
seckel syndrome 1 47


Related Diseases for Seckel Syndrome Type 1

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Sources:
17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Seckel Syndrome Type 1

Search NIH Clinical Center for Seckel Syndrome Type 1

Genetic Tests for Seckel Syndrome Type 1

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Sources:
20GeneTests
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Genetic tests related to Seckel Syndrome Type 1:

id Genetic test Affiliating Genes
1 Seckel Syndrome Type 120 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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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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet