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SCKL
MCID: SCK004
MIFTS: 57

Seckel Syndrome (SCKL)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Seckel Syndrome

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MalaCards integrated aliases for Seckel Syndrome:

Name: Seckel Syndrome 12 74 52 58 36 29 54 6 15 39 71
Microcephalic Primordial Dwarfism 12 58
Bird-Headed Dwarfism 12 52
Virchow-Seckel Dwarfism 12
Nanocephalic Dwarfism 52
Seckel-Type Dwarfism 52
Harper's Syndrome 12
Sckl 52

Characteristics:

Orphanet epidemiological data:

58
seckel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050569
KEGG 36 H00992
ICD10 32 Q87.1
MESH via Orphanet 44 C537533
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C0265202
UMLS 71 C0265202
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Summaries for Seckel Syndrome

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NIH Rare Diseases : 52 Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly ( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. About less than 25% of the patients also have blood abnormalities. Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes , according to the specific gene alteration (mutation ). Treatment is supportive.

MalaCards based summary : Seckel Syndrome, also known as microcephalic primordial dwarfism, is related to seckel syndrome 2 and seckel syndrome 1, and has symptoms including seizures An important gene associated with Seckel Syndrome is ATR (ATR Serine/Threonine Kinase), and among its related pathways/superpathways are Fanconi anemia pathway and Cell cycle. Affiliated tissues include eye, bone and liver, and related phenotypes are intellectual disability and delayed skeletal maturation

Disease Ontology : 12 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

KEGG : 36 Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental retardation also occurs. Genes that control cellular responses to DNA damage are linked to the syndrome.

Wikipedia : 74 Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's... more...

Sources

Related Diseases for Seckel Syndrome

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Diseases in the Seckel Syndrome family:

Seckel Syndrome 1 Seckel Syndrome 2
Seckel Syndrome 4 Seckel Syndrome 5
Seckel Syndrome 6 Seckel Syndrome 7
Seckel Syndrome 8 Seckel Syndrome 9
Seckel Syndrome 10

Diseases related to Seckel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 2 35.1 RBBP8 PCNT DNA2 CEP152 CENPJ CDK5RAP2
2 seckel syndrome 1 35.0 RBBP8 PCNT CEP152 CENPJ ATR
3 seckel syndrome 4 35.0 RBBP8 PCNT MCPH1 CEP152 CENPJ ATR
4 seckel syndrome 5 35.0 RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
5 seckel syndrome 8 35.0 RBBP8 DNA2 CEP152
6 seckel syndrome 6 34.8 CEP63 CEP152
7 microcephalic osteodysplastic primordial dwarfism, type ii 33.0 STIL PCNT MCPH1 CEP63 CEP152 CEP135
8 dwarfism 32.1 PCNT NSMCE2 DNA2
9 microcephaly 31.5 WDR62 TRAIP STIL RBBP8 PLK4 NSMCE2
10 isolated growth hormone deficiency, type ia 31.2 WDR62 TRAIP STIL RBBP8 PLK4 PCNT
11 microcephaly 6, primary, autosomal recessive 30.9 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
12 primary microcephaly 30.8 WDR62 STIL PLK4 PCNT MCPH1 CEP63
13 microcephaly 18, primary, autosomal dominant 30.8 CEP152 CEP135 CENPJ
14 fanconi anemia, complementation group a 30.7 RBBP8 LIG4 DNA2 CENPE ATRIP ATR
15 microcephaly 17, primary, autosomal recessive 30.7 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
16 microcephaly 1, primary, autosomal recessive 30.7 MCPH1 CEP152 CENPJ ASPM
17 microcephaly 10, primary, autosomal recessive 30.7 WDR62 CEP152 CEP135
18 microcephaly 9, primary, autosomal recessive 30.7 WDR62 STIL CEP152 CEP135 CENPJ
19 microcephaly 11, primary, autosomal recessive 30.7 WDR62 MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
20 microcephaly 12, primary, autosomal recessive 30.7 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
21 microcephaly 8, primary, autosomal recessive 30.7 WDR62 STIL MCPH1 CEP152 CEP135 CDK5RAP2
22 microcephaly 15, primary, autosomal recessive 30.7 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
23 microcephaly 7, primary, autosomal recessive 30.6 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
24 microcephaly 5, primary, autosomal recessive 30.6 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
25 microcephaly 4, primary, autosomal recessive 30.6 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
26 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 30.6 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
27 microcephaly 3, primary, autosomal recessive 30.6 WDR62 STIL MCPH1 CEP63 CEP152 CEP135
28 meier-gorlin syndrome 1 30.6 WDR62 TRAIP RBBP8 PCNT NIN CEP63
29 microcephaly 13, primary, autosomal recessive 30.6 WDR62 CENPE
30 primary autosomal recessive microcephaly 30.3 WDR62 STIL RBBP8 PLK4 PCNT NIN
31 microcephalic primordial dwarfism, toriello type 12.9
32 seckel syndrome 7 12.7
33 microcephalic primordial dwarfism-insulin resistance syndrome 12.6
34 seckel syndrome 9 12.6
35 seckel syndrome 10 12.6
36 microcephalic primordial dwarfism, montreal type 12.2
37 bangstad syndrome 11.8
38 seckel like syndrome majoor-krakauer type 11.6
39 microcephaly, short stature, and polymicrogyria with or without seizures 11.6
40 alazami syndrome 11.6
41 nijmegen breakage syndrome 11.5
42 autosomal recessive disease 10.5
43 periventricular nodular heterotopia 10.5 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
44 autosomal recessive non-syndromic intellectual disability 10.5 WDR62 STIL MCPH1 CEP152 CEP135 CDK5RAP2
45 joubert syndrome 1 10.5 PCNT NIN MCPH1 CEP152 CENPJ CDK5RAP2
46 physical disorder 10.5 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
47 xeroderma pigmentosum, variant type 10.5 RBBP8 LIG4 DNA2 ATRIP ATR
48 congenital nervous system abnormality 10.4 WDR62 STIL PLK4 PCNT MCPH1 CEP63
49 autosomal recessive cerebellar ataxia 10.4 RBBP8 ATRIP ATR
50 lissencephaly 2 10.4 WDR62 CEP152

Graphical network of the top 20 diseases related to Seckel Syndrome:



Diseases related to Seckel Syndrome
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Symptoms & Phenotypes for Seckel Syndrome

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Human phenotypes related to Seckel Syndrome:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
9 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
10 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
11 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
12 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0007495
13 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
14 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
15 mild global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011342
16 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
17 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
18 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
19 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
20 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
21 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
22 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
23 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
24 absent earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000387
25 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
26 abnormality of earlobe 58 Frequent (79-30%)

UMLS symptoms related to Seckel Syndrome:


seizures

GenomeRNAi Phenotypes related to Seckel Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 ATR DNA2 LIG4 MCPH1 NSMCE2 RBBP8

MGI Mouse Phenotypes related to Seckel Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 ASPM ATR CDK5RAP2 CENPE CENPJ CEP152
2 growth/size/body region MP:0005378 10.13 ASPM ATR CDK5RAP2 CENPJ CEP135 CEP63
3 mortality/aging MP:0010768 10.13 ATR ATRIP CDK5RAP2 CENPE CENPJ CEP135
4 embryo MP:0005380 10.06 ATR CENPE CENPJ CEP152 NSMCE2 PLK4
5 endocrine/exocrine gland MP:0005379 10.02 ASPM ATR CENPJ CEP63 LIG4 MCPH1
6 nervous system MP:0003631 9.73 ASPM ATR CDK5RAP2 CENPJ CEP152 CEP63
7 neoplasm MP:0002006 9.63 ATR CDK5RAP2 DNA2 LIG4 NSMCE2 RBBP8
8 reproductive system MP:0005389 9.28 ASPM ATR CDK5RAP2 CENPJ CEP63 LIG4
Sources

Drugs & Therapeutics for Seckel Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903

Search NIH Clinical Center for Seckel Syndrome

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Genetic Tests for Seckel Syndrome

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Genetic tests related to Seckel Syndrome:

# Genetic test Affiliating Genes
1 Seckel Syndrome 29
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Anatomical Context for Seckel Syndrome

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MalaCards organs/tissues related to Seckel Syndrome:

40
Eye, Bone, Liver, Bone Marrow, Brain, Myeloid, Kidney
Sources

Publications for Seckel Syndrome

About this section

Articles related to Seckel Syndrome:

(show top 50) (show all 236)
# Title Authors PMID Year
1
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. 54 61 6
12640452 2003
2
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 61 6
26595769 2016
3
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 61 6
25344692 2014
4
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 61 6
24748105 2014
5
Genomic analysis of primordial dwarfism reveals novel disease genes. 61 6
24389050 2014
6
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. 61 6
23111928 2013
7
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. 61 6
23144622 2012
8
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 61 6
21131973 2011
9
Novel CENPJ mutation causes Seckel syndrome. 61 6
20522431 2010
10
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 61 6
20301772 2009
11
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. 61 6
11781686 2001
12
ATR and ATRIP: partners in checkpoint signaling. 6
11721054 2001
13
ATR disruption leads to chromosomal fragmentation and early embryonic lethality. 6
10691732 2000
14
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. 54 61
19546241 2009
15
Mice hypomorphic for Atr have increased DNA damage and abnormal checkpoint response. 54 61
19504344 2009
16
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. 54 61
16217032 2005
17
Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. 54 61
16015581 2005
18
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. 54 61
15496423 2004
19
Chromosomal instability at common fragile sites in Seckel syndrome. 54 61
15309689 2004
20
Functional interplay between the oxidative stress response and DNA damage checkpoint signaling for genome maintenance in aerobic organisms. 61
31875928 2020
21
Ocular characteristics in a variant microcephalic primordial dwarfism type II. 61
31510961 2019
22
Biallelic variants in DNA2 cause microcephalic primordial dwarfism. 61
31045292 2019
23
[Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome]. 61
31055814 2019
24
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. 61
29284336 2019
25
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. 61
30846821 2019
26
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. 61
31151966 2019
27
Genomic and phenotypic delineation of congenital microcephaly. 61
30214071 2019
28
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. 61
30006060 2019
29
Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders. 61
31788001 2019
30
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. 61
30199583 2018
31
Nucleolar residence of the seckel syndrome protein TRAIP is coupled to ribosomal DNA transcription. 61
30165463 2018
32
Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature. 61
29894776 2018
33
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings. 61
29760432 2018
34
Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report. 61
30090148 2018
35
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. 61
29504900 2018
36
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. 61
28832566 2017
37
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 61
28944240 2017
38
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. 61
28409412 2017
39
Consequences of Centrosome Dysfunction During Brain Development. 61
28600781 2017
40
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. 61
27639833 2017
41
Electron Microscopy Structural Insights into CPAP Oligomeric Behavior: A Plausible Assembly Process of a Supramolecular Scaffold of the Centrosome. 61
28396859 2017
42
ATR maintains chromosomal integrity during postnatal cerebellar neurogenesis and is required for medulloblastoma formation. 61
27803059 2016
43
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. 61
26940245 2016
44
Replication intermediates that escape Dna2 activity are processed by Holliday junction resolvase Yen1. 61
27779184 2016
45
Correction for The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in Drosophila. 61
27738196 2016
46
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 61
27232581 2016
47
The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in Drosophila. 61
27053665 2016
48
ATR promotes cilia signalling: links to developmental impacts. 61
26908596 2016
49
CPAP promotes timely cilium disassembly to maintain neural progenitor pool. 61
26929011 2016
50
Primordial dwarfism: overview of clinical and genetic aspects. 61
26323792 2016
Sources

Variations for Seckel Syndrome

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ClinVar genetic disease variations for Seckel Syndrome:

6 (show top 50) (show all 262) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter)SNV Likely pathogenic 517617 rs1342429887 15:49089724-49089724 15:48797527-48797527
2 CEP152 NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)SNV Conflicting interpretations of pathogenicity 316430 rs201217824 15:49085583-49085583 15:48793386-48793386
3 CENPJ NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg)SNV Conflicting interpretations of pathogenicity 311617 rs78628025 13:25479605-25479605 13:24905467-24905467
4 RBBP8 NM_002894.3(RBBP8):c.1290T>A (p.Thr430=)SNV Conflicting interpretations of pathogenicity 326225 rs74565999 18:20573080-20573080 18:22993117-22993117
5 CEP152 NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg)SNV Conflicting interpretations of pathogenicity 316420 rs74245641 15:49048641-49048641 15:48756444-48756444
6 CEP152 NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)SNV Conflicting interpretations of pathogenicity 316410 rs186930123 15:49031404-49031404 15:48739207-48739207
7 CEP152 NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=)SNV Conflicting interpretations of pathogenicity 316412 rs199777941 15:49036492-49036492 15:48744295-48744295
8 CEP152 NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)SNV Conflicting interpretations of pathogenicity 316429 rs199862615 15:49083481-49083481 15:48791284-48791284
9 CENPJ NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu)SNV Conflicting interpretations of pathogenicity 311629 rs139844197 13:25484137-25484137 13:24909999-24909999
10 CEP152 NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)SNV Conflicting interpretations of pathogenicity 316431 rs200957146 15:49088254-49088254 15:48796057-48796057
11 RBBP8 NM_002894.3(RBBP8):c.891A>G (p.Glu297=)SNV Conflicting interpretations of pathogenicity 326222 rs140403315 18:20570983-20570983 18:22991020-22991020
12 RBBP8 NM_002894.3(RBBP8):c.1632G>A (p.Thr544=)SNV Conflicting interpretations of pathogenicity 326228 rs371151302 18:20573422-20573422 18:22993459-22993459
13 ATR NM_001184.4(ATR):c.2205C>T (p.His735=)SNV Conflicting interpretations of pathogenicity 157969 rs148955716 3:142274855-142274855 3:142556013-142556013
14 ATR NM_001184.4(ATR):c.2688G>A (p.Leu896=)SNV Conflicting interpretations of pathogenicity 157972 rs117926957 3:142272186-142272186 3:142553344-142553344
15 ATR NM_001184.4(ATR):c.423T>C (p.Ile141=)SNV Conflicting interpretations of pathogenicity 157983 rs10935466 3:142281821-142281821 3:142562979-142562979
16 CENPJ NM_018451.5(CENPJ):c.1233G>A (p.Pro411=)SNV Conflicting interpretations of pathogenicity 158191 rs112133852 13:25480943-25480943 13:24906805-24906805
17 CENPJ NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)SNV Conflicting interpretations of pathogenicity 158205 rs138675304 13:25473696-25473696 13:24899558-24899558
18 CENPJ NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly)SNV Conflicting interpretations of pathogenicity 158204 rs75008861 13:25478083-25478083 13:24903945-24903945
19 CENPJ NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr)SNV Conflicting interpretations of pathogenicity 158198 rs140927921 13:25480216-25480216 13:24906078-24906078
20 CEP152 NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=)SNV Conflicting interpretations of pathogenicity 158269 rs150910683 15:49030665-49030665 15:48738468-48738468
21 CEP152 NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)SNV Conflicting interpretations of pathogenicity 158253 rs74553953 15:49048132-49048132 15:48755935-48755935
22 CEP152 NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr)SNV Conflicting interpretations of pathogenicity 158252 rs74012142 15:49048167-49048167 15:48755970-48755970
23 CEP152 NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)SNV Conflicting interpretations of pathogenicity 158246 rs117557829 15:49048668-49048668 15:48756471-48756471
24 CEP152 NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)SNV Conflicting interpretations of pathogenicity 158245 rs145138194 15:49052345-49052345 15:48760148-48760148
25 CEP152 NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)SNV Conflicting interpretations of pathogenicity 158242 rs149176738 15:49059275-49059275 15:48767078-48767078
26 CEP152 NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)SNV Conflicting interpretations of pathogenicity 158262 rs149478199 15:49033819-49033819 15:48741622-48741622
27 CEP152 NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)SNV Conflicting interpretations of pathogenicity 158224 rs181295720 15:49076311-49076311 15:48784114-48784114
28 CEP152 NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)SNV Conflicting interpretations of pathogenicity 158257 rs188101277 15:49089694-49089694 15:48797497-48797497
29 CENPJ NM_018451.5(CENPJ):c.2992-17dupduplication Conflicting interpretations of pathogenicity 193728 rs35599563 13:25467010-25467011 13:24892872-24892873
30 ATR NM_001184.4(ATR):c.4153-21dupduplication Conflicting interpretations of pathogenicity 195738 rs112116713 3:142241692-142241693 3:142522850-142522851
31 CENPJ NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)SNV Conflicting interpretations of pathogenicity 197319 rs143260721 13:25484147-25484147 13:24910009-24910009
32 ATR NM_001184.4(ATR):c.4764C>T (p.Leu1588=)SNV Conflicting interpretations of pathogenicity 210490 rs142240637 3:142231190-142231190 3:142512348-142512348
33 ATR NM_001184.4(ATR):c.4677C>T (p.Asp1559=)SNV Conflicting interpretations of pathogenicity 210489 rs112726878 3:142231277-142231277 3:142512435-142512435
34 CENPJ NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp)SNV Conflicting interpretations of pathogenicity 210653 rs143258862 13:25481285-25481285 13:24907147-24907147
35 RBBP8 NM_002894.3(RBBP8):c.1902T>C (p.Cys634=)SNV Conflicting interpretations of pathogenicity 212020 rs201620586 18:20573773-20573773 18:22993810-22993810
36 CEP152 NM_001194998.2(CEP152):c.4094-9A>TSNV Conflicting interpretations of pathogenicity 95654 rs80090788 15:49031494-49031494 15:48739297-48739297
37 CENPJ NM_018451.5(CENPJ):c.3619-12G>TSNV Conflicting interpretations of pathogenicity 261032 rs527997591 13:25458395-25458395 13:24884257-24884257
38 ATR NM_001184.4(ATR):c.4323A>G (p.Gln1441=)SNV Conflicting interpretations of pathogenicity 343606 rs56100509 3:142238570-142238570 3:142519728-142519728
39 ATR NM_001184.4(ATR):c.59+4G>ASNV Conflicting interpretations of pathogenicity 343630 rs758046042 3:142297484-142297484 3:142578642-142578642
40 ATR NM_001184.4(ATR):c.2226T>C (p.Cys742=)SNV Conflicting interpretations of pathogenicity 343616 rs147895945 3:142274834-142274834 3:142555992-142555992
41 ATR NM_001184.4(ATR):c.1885+7G>ASNV Conflicting interpretations of pathogenicity 343617 rs74282951 3:142277459-142277459 3:142558617-142558617
42 RBBP8 NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)SNV Conflicting interpretations of pathogenicity 130103 rs139743319 18:20573157-20573157 18:22993194-22993194
43 RBBP8 NM_002894.3(RBBP8):c.1644T>C (p.Asp548=)SNV Conflicting interpretations of pathogenicity 130104 rs34780140 18:20573434-20573434 18:22993471-22993471
44 ATR NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn)SNV Conflicting interpretations of pathogenicity 343603 rs55724025 3:142231134-142231134 3:142512292-142512292
45 ATR NM_001184.4(ATR):c.3241C>T (p.Leu1081=)SNV Conflicting interpretations of pathogenicity 343611 rs139173669 3:142266683-142266683 3:142547841-142547841
46 ATR NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)SNV Conflicting interpretations of pathogenicity 343612 rs141783863 3:142272098-142272098 3:142553256-142553256
47 ATR NM_001184.4(ATR):c.190A>G (p.Thr64Ala)SNV Conflicting interpretations of pathogenicity 343628 rs35306038 3:142285065-142285065 3:142566223-142566223
48 ATR NM_001184.4(ATR):c.-29_-9delinsTindel Conflicting interpretations of pathogenicity 343631 rs886058060 3:142297555-142297575 3:142578713-142578733
49 ATR NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)SNV Conflicting interpretations of pathogenicity 343597 rs150339560 3:142212065-142212065 3:142493223-142493223
50 ATR NM_001184.4(ATR):c.3642T>C (p.His1214=)SNV Conflicting interpretations of pathogenicity 343609 rs139078985 3:142257407-142257407 3:142538565-142538565
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Expression for Seckel Syndrome

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Search GEO for disease gene expression data for Seckel Syndrome.
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Pathways for Seckel Syndrome

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Pathways related to Seckel Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Fanconi anemia pathway hsa03460
2 Cell cycle hsa04110
3 p53 signaling pathway hsa04115

Pathways related to Seckel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Regulation of PLK1 Activity at G2/M Transition 65
Show member pathways
 12.79 PLK4 PCNT CEP63 CEP152 CEP135 CENPJ
2
Regulation of TP53 Activity 65
Show member pathways
 12.62 RBBP8 DNA2 CENPJ ATRIP ATR
3
Cell Cycle, Mitotic 65
Show member pathways
 12.6 RBBP8 PLK4 PCNT MCPH1 DNA2 CEP63
4
Organelle biogenesis and maintenance 65
Show member pathways
 12.43 PLK4 PCNT CEP63 CEP152 CEP135 CENPJ
5
Cell Cycle Checkpoints 65
Show member pathways
 12.3 RBBP8 DNA2 ATRIP ATR
6
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 11.97 RBBP8 DNA2 ATRIP ATR
7
DNA Damage 4
11.9 RBBP8 MCPH1 LIG4 CENPE ATRIP ATR
8
ATM Signaling Network in Development and Disease 1
11.16 RBBP8 CEP63 ATR
Sources

GO Terms for Seckel Syndrome

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Cellular components related to Seckel Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.33 WDR62 TRAIP STIL PLK4 PCNT NIN
2 nucleoplasm GO:0005654 10.25 RBBP8 NSMCE2 NIN MCPH1 LIG4 DNA2
3 cytoskeleton GO:0005856 9.97 WDR62 STIL PLK4 PCNT NIN MCPH1
4 microtubule organizing center GO:0005815 9.86 WDR62 PCNT NIN MCPH1 CEP63 CEP152
5 microtubule GO:0005874 9.85 PCNT NIN CENPJ CENPE CDK5RAP2 ASPM
6 spindle pole GO:0000922 9.72 WDR62 PLK4 NIN CEP63 CDK5RAP2
7 nuclear chromosome, telomeric region GO:0000784 9.7 LIG4 DNA2 ATR
8 centrosome GO:0005813 9.7 WDR62 STIL PLK4 PCNT NIN CEP63
9 mitotic spindle pole GO:0097431 9.61 NIN CDK5RAP2 ASPM
10 pericentriolar material GO:0000242 9.58 NIN CEP152 CDK5RAP2
11 microtubule minus-end GO:0036449 9.49 NIN ASPM
12 deuterosome GO:0098536 9.48 PLK4 CEP152
13 centriole GO:0005814 9.28 WDR62 STIL PLK4 PCNT NIN CEP63

Biological processes related to Seckel Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.01 RBBP8 NSMCE2 LIG4 CEP63 CENPE ASPM
2 cellular response to DNA damage stimulus GO:0006974 9.98 RBBP8 NSMCE2 LIG4 DNA2 CEP63 ATRIP
3 DNA repair GO:0006281 9.97 RBBP8 NSMCE2 LIG4 DNA2 ATRIP ATR
4 cell division GO:0051301 9.91 RBBP8 NSMCE2 LIG4 CEP63 CENPJ CENPE
5 DNA replication GO:0006260 9.85 RBBP8 LIG4 DNA2 ATRIP ATR
6 regulation of signal transduction by p53 class mediator GO:1901796 9.83 RBBP8 DNA2 ATRIP ATR
7 G2/M transition of mitotic cell cycle GO:0000086 9.8 PLK4 PCNT CEP63 CEP152 CEP135 CENPJ
8 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.78 RBBP8 DNA2 ATRIP
9 cerebral cortex development GO:0021987 9.75 WDR62 MCPH1 ASPM
10 mitotic spindle organization GO:0007052 9.71 WDR62 STIL PCNT CENPE
11 ciliary basal body-plasma membrane docking GO:0097711 9.7 PLK4 PCNT CEP63 CEP152 CEP135 CENPJ
12 DNA damage checkpoint GO:0000077 9.69 CEP63 ATRIP ATR
13 centrosome duplication GO:0051298 9.65 STIL CEP152 CENPJ
14 positive regulation of microtubule polymerization GO:0031116 9.62 NIN CDK5RAP2
15 neuronal stem cell population maintenance GO:0097150 9.61 MCPH1 ASPM
16 protein localization to centrosome GO:0071539 9.6 STIL MCPH1
17 DNA double-strand break processing GO:0000729 9.59 RBBP8 DNA2
18 centriole-centriole cohesion GO:0010457 9.58 NIN CEP135
19 regulation of centriole replication GO:0046599 9.57 STIL CENPJ
20 positive regulation of non-motile cilium assembly GO:1902857 9.56 CEP135 CENPJ
21 positive regulation of establishment of protein localization GO:1904951 9.55 CEP135 CENPJ
22 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.5 PLK4 CEP63 CEP152
23 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.5 PLK4 PCNT CEP63 CEP152 CEP135 CENPJ
24 centriole replication GO:0007099 9.17 WDR62 PLK4 CEP63 CEP152 CEP135 CENPJ

Molecular functions related to Seckel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.62 WDR62 TRAIP STIL RBBP8 PLK4 PCNT
Sources

Sources for Seckel Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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