MCID: SCK023
MIFTS: 27

Seckel Syndrome Type 1 malady

Neuronal, Bone, Fetal categories

Summaries for Seckel Syndrome Type 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Seckel Syndrome Type 1, also known as seckel syndrome 1, is related to seckel syndrome type 4 and ataxia telangiectasia, and has symptoms including microcephaly, craniostenosis/craniosynostosis/sutural synostosis and narrow face. An important gene associated with Seckel Syndrome Type 1 is ATR (ataxia telangiectasia and Rad3 related), and among its related pathways are BRCA1 Pathway and Fanconi Anemia pathway.

Description from OMIM:47 210600, 600546, 606744, 608664, 613676 613823 more

Aliases & Classifications for Seckel Syndrome Type 1

Sources:
49Orphanet, 20GeneTests, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Bone


Characteristics (Orphanet epidemiological data):

49
seckel syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

seckel syndrome type 1 20
seckel syndrome 1 47
seckel syndrome 49


External Ids:

ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 57917004
UMLS via Orphanet62 C0265202
MESH via Orphanet36 C537533

Related Diseases for Seckel Syndrome Type 1

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Seckel Syndrome Type 1:



Diseases related to seckel syndrome type 1

Clinical Features for Seckel Syndrome Type 1

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

210600,600546,606744,608664,613676,613823

Clinical synopsis from OMIM:

210600

Symptoms:

49 (show all 24)
  • microcephaly
  • craniostenosis/craniosynostosis/sutural synostosis
  • narrow face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • beaked nose
  • small/hypoplastic/adherent/absent ear lobe
  • clinodactyly of fifth finger
  • wide space between 1st-2nd toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal/absent ossification
  • autosomal recessive inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • premature ageing
  • intrauterine growth retardation
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • glaucoma
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • cone epiphyses/epiphysis
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • scoliosis

Drugs & Therapeutics for Seckel Syndrome Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

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

Animal Models for Seckel Syndrome Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Seckel Syndrome Type 1

Genetic Variations for Seckel Syndrome Type 1

Expression for genes affiliated with Seckel Syndrome Type 1

Sources:
1BioGPS, 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

Sources:
52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Compounds for genes affiliated with Seckel Syndrome Type 1

GO Terms for genes affiliated with Seckel Syndrome Type 1

Sources:
16Gene Ontology
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Cellular components related to Seckel Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:0058149.3CENPJ, PCNT
2centrosomeGO:0058138.6CEP152, CENPJ, PCNT

Biological processes related to Seckel Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA damage checkpointGO:0000779.2ATRIP, ATR
2DNA replicationGO:0062609.2ATRIP, ATR
3G2/M transition of mitotic cell cycleGO:0000868.9CEP152, CENPJ, PCNT
4DNA repairGO:0062818.6RBBP8, ATR, ATRIP
5mitotic cell cycleGO:0002788.6CEP152, CENPJ, PCNT

Molecular functions related to Seckel Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1CEP152, CENPJ, PCNT, ATRIP, ATR, RBBP8

Products for genes affiliated with Seckel Syndrome Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Seckel Syndrome Type 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet