MCID: SCK023
MIFTS: 34

Seckel Syndrome Type 1 malady

Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Seckel Syndrome Type 1

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46OMIM, 32MalaCards
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MalaCards: Seckel Syndrome Type 1, also known as seckel syndrome 1, is related to seckel syndrome type 4 and seckel syndrome, and has symptoms including intrauterine growth retardation, downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures and glaucoma. 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. Affiliated tissues include bone.

Description from OMIM:46 210600, 600546, 606744, 608664, 613676 613823 more

Aliases & Classifications for Seckel Syndrome Type 1

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Sources:
48Orphanet, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
seckel syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

seckel syndrome type 1 20
seckel syndrome 1 46
seckel syndrome 48


External Ids:

ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 57917004
UMLS via Orphanet61 C0265202
MESH via Orphanet35 C537533

Related Diseases for Seckel Syndrome Type 1

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

210600,600546,606744,608664,613676,613823

Clinical synopsis from OMIM:

210600

Symptoms:

48 (show all 24)
  • 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
  • premature ageing
  • short stature/dwarfism/nanism
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • 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
  • microcephaly

Drugs & Therapeutics for Seckel Syndrome Type 1

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5CenterWatch, 41NIH 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

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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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32MalaCards
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MalaCards organs/tissues related to Seckel Syndrome Type 1:

32
Bone

Animal Models for Seckel Syndrome Type 1 or affiliated genes

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Publications for Seckel Syndrome Type 1

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Genetic Variations for Seckel Syndrome Type 1

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Expression for genes affiliated with Seckel Syndrome Type 1

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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

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Sources:
51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology
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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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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Seckel Syndrome Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet