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SCKL
MCID: SCK004
MIFTS: 55

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 76 53 59 37 29 55 6 15 40 73
Bird-Headed Dwarfism 12 53
Microcephalic Primordial Dwarfism 12
Virchow-Seckel Dwarfism 12
Nanocephalic Dwarfism 53
Seckel-Type Dwarfism 53
Harper's Syndrome 12
Sckl 53

Characteristics:

Orphanet epidemiological data:

59
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: 33 34
Orphanet: 59  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050569
ICD10 33 Q87.1
Orphanet 59 ORPHA808
MESH via Orphanet 45 C537533
UMLS via Orphanet 74 C0265202
ICD10 via Orphanet 34 Q87.1
KEGG 37 H00992
UMLS 73 C0265202
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Summaries for Seckel Syndrome

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NIH Rare Diseases : 53 Seckel syndromeis 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 bird-headed dwarfism, is related to seckel syndrome 1 and seckel syndrome 5, 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 bone marrow, and related phenotypes are intellectual disability and scoliosis

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

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 1 34.1 ATR CENPJ CEP152 RBBP8
2 seckel syndrome 5 34.0 CENPJ CEP152 RNF17
3 seckel syndrome 2 34.0 ATR CENPJ CEP152 RBBP8
4 seckel syndrome 4 33.9 CENPJ CNTLN PCNT RNF17
5 microcephalic osteodysplastic primordial dwarfism, type ii 31.7 CENPJ CNTLN PCNT
6 dwarfism 30.7 DNA2 NSMCE2 PCNT RNU4ATAC
7 meier-gorlin syndrome 1 30.6 ATR ATRIP CEP152 CEP63 PCNT RNU4ATAC
8 isolated growth hormone deficiency, type ia 30.3 CNTLN DNA2 PCNT RNU4ATAC TRAIP
9 primary microcephaly 29.9 CENPJ CEP152 CEP63 MCPH1
10 microcephaly 29.5 ATR CENPE CENPJ CEP152 CEP63 LIG4
11 microcephalic primordial dwarfism, toriello type 12.7
12 seckel syndrome 8 12.5
13 seckel syndrome 6 12.4
14 seckel syndrome 7 12.4
15 microcephalic primordial dwarfism-insulin resistance syndrome 12.4
16 seckel syndrome 9 12.4
17 seckel syndrome 10 12.4
18 microcephalic primordial dwarfism, montreal type 12.0
19 bangstad syndrome 11.6
20 microcephaly 10, primary, autosomal recessive 11.6
21 seckel like syndrome majoor-krakauer type 11.5
22 microcephaly, short stature, and polymicrogyria with or without seizures 11.4
23 alazami syndrome 11.4
24 nijmegen breakage syndrome 11.0
25 microcephalic osteodysplastic primordial dwarfism, type iii 10.3
26 microcephalic osteodysplastic primordial dwarfism, type i 10.2 PCNT RNU4ATAC
27 microcephaly 17, primary, autosomal recessive 10.1 CENPJ CEP152 CEP63 MCPH1
28 primary autosomal recessive microcephaly 10.1 CENPJ CEP152 MCPH1
29 microcephaly 12, primary, autosomal recessive 10.1 CENPJ CEP152 CEP63 MCPH1
30 microcephaly 8, primary, autosomal recessive 10.1 CEP63 CNTLN
31 holoprosencephaly 10.0
32 cleft lip 10.0
33 semilobar holoprosencephaly 10.0
34 microcephaly 13, primary, autosomal recessive 10.0 CENPE MCPH1
35 microcephaly 18, primary, autosomal dominant 10.0 CENPE CENPJ CEP152 CEP63 MCPH1
36 physical disorder 10.0 CENPJ CEP63 MCPH1 RNU4ATAC
37 microcephaly 3, primary, autosomal recessive 10.0 CENPJ CEP152 CEP63 CNTLN MCPH1
38 microcephaly 6, primary, autosomal recessive 10.0 CENPJ CEP152 CEP63 CNTLN MCPH1
39 microcephaly 4, primary, autosomal recessive 10.0 CENPJ CEP152 CEP63 CNTLN MCPH1
40 corneal dystrophy, meesmann 10.0 CEP152 CNTLN
41 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.0 CENPJ CEP152 CEP63 CNTLN MCPH1
42 microcephaly 5, primary, autosomal recessive 10.0 CENPJ CEP152 CEP63 CNTLN MCPH1
43 microcephaly 7, primary, autosomal recessive 10.0 CENPJ CEP152 CEP63 CNTLN MCPH1
44 congenital nervous system abnormality 10.0 CENPJ CEP152 CEP63 MCPH1 RNU4ATAC
45 retinal detachment 9.9
46 tetralogy of fallot 9.9
47 ataxia-telangiectasia 9.9
48 fanconi anemia, complementation group a 9.9
49 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
50 moyamoya disease 1 9.9

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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
4 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
10 cone-shaped epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0010579
11 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
12 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
13 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
14 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
15 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
16 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
17 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
18 sandal gap 59 32 hallmark (90%) Very frequent (99-80%) HP:0001852
19 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
20 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
21 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
22 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
23 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
24 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
25 absent earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0000387
26 abnormality of earlobe 59 Frequent (79-30%)

UMLS symptoms related to Seckel Syndrome:


seizures

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.96 NIN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.96 LIG4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.96 DNA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.96 LIG4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.96 LIG4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.96 DNA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.96 DNA2 LIG4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.96 DNA2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.96 LIG4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.96 LIG4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.96 DNA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.96 NIN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.96 LIG4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.96 DNA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.96 NIN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.96 DNA2 LIG4 NIN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.96 LIG4
18 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 ATR CENPE CENPJ CEP152 CEP63 DNA2
2 embryo MP:0005380 9.56 ATR CENPE CENPJ CEP152 NSMCE2 PLK4
3 endocrine/exocrine gland MP:0005379 9.23 ATR CENPJ CEP63 LIG4 MCPH1 NSMCE2
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 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
Sources

Anatomical Context for Seckel Syndrome

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MalaCards organs/tissues related to Seckel Syndrome:

41
Eye, Bone, Bone Marrow, Kidney, Liver, T Cells, Myeloid
Sources

Publications for Seckel Syndrome

About this section

Articles related to Seckel Syndrome:

(show top 50) (show all 110)
# Title Authors Year
1
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. ( 29504900 )
2018
2
Nephrolithiasis in a 17 Year Old Male with Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature. ( 29894776 )
2018
3
Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report. ( 30090148 )
2018
4
Nucleolar residence of the seckel syndrome protein TRAIP is coupled to ribosomal DNA transcription. ( 30165463 )
2018
5
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. ( 30199583 )
2018
6
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. ( 29284336 )
2017
7
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. ( 28832566 )
2017
8
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. ( 27738196 )
2016
9
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. ( 27053665 )
2016
10
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. ( 27639833 )
2016
11
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. ( 26150138 )
2015
12
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. ( 26755913 )
2015
13
Mutations in CDK5RAP2 cause Seckel syndrome. ( 26436113 )
2015
14
Seckel Syndrome with Severe Sinus Bradycardia. ( 25186569 )
2014
15
Antenatal diagnosis of Seckel Syndrome: a rare case report. ( 26266004 )
2014
16
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
17
Seckel syndrome: a rare case report. ( 24739918 )
2014
18
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. ( 24907886 )
2014
19
Bilateral retinal detachment in Seckel syndrome. ( 25284118 )
2014
20
Antenatal diagnosis of seckel syndrome. ( 25404793 )
2014
21
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. ( 24483323 )
2014
22
Fecalith causing intestinal obstruction in a patient with seckel syndrome. ( 25057475 )
2014
23
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. ( 23401567 )
2013
24
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. ( 22027933 )
2013
25
Visual vignette. Seckel syndrome. ( 22592053 )
2012
26
An unusual presentation of Seckel syndrome: fatty liver. ( 23161319 )
2012
27
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ( 23144622 )
2012
28
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. ( 21669506 )
2012
29
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. ( 22869956 )
2012
30
Palatoplasty in a patient with Seckel syndrome. ( 23482443 )
2012
31
Seckel syndrome: a report of a case. ( 23263432 )
2012
32
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. ( 23166506 )
2012
33
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
34
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. ( 21395565 )
2011
35
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. ( 22308854 )
2011
36
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. ( 21131973 )
2011
37
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? ( 20393849 )
2010
38
Dental manifestations associated with Seckel syndrome type II: a case report. ( 21070714 )
2010
39
Open and closed lip schizencephaly in Seckel syndrome: a case report. ( 19794099 )
2010
40
A case of Seckel syndrome with Tetralogy of Fallot. ( 20420029 )
2010
41
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010
42
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
43
Seckel syndrome with chromosomal 18 deletion. ( 20012807 )
2009
44
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. ( 19839044 )
2009
45
Seckel syndrome and moyamoya. ( 19338412 )
2009
46
Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging. ( 19244074 )
2009
47
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
48
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. ( 18616496 )
2008
49
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. ( 18157127 )
2008
50
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. ( 18503579 )
2008
Sources

Variations for Seckel Syndrome

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ClinVar genetic disease variations for Seckel Syndrome:

6 (show top 50) (show all 522)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBBP8 NM_002894.2(RBBP8): c.1009A> G (p.Lys337Glu) single nucleotide variant Uncertain significance rs121434388 GRCh37 Chromosome 18, 20572799: 20572799
2 RBBP8 NM_002894.2(RBBP8): c.1009A> G (p.Lys337Glu) single nucleotide variant Uncertain significance rs121434388 GRCh38 Chromosome 18, 22992836: 22992836
3 CENPJ NM_018451.4(CENPJ): c.163C> G (p.Pro55Ala) single nucleotide variant Benign/Likely benign rs17081389 GRCh37 Chromosome 13, 25487001: 25487001
4 CENPJ NM_018451.4(CENPJ): c.163C> G (p.Pro55Ala) single nucleotide variant Benign/Likely benign rs17081389 GRCh38 Chromosome 13, 24912863: 24912863
5 CENPJ NM_018451.4(CENPJ): c.187G> C (p.Asp63His) single nucleotide variant Benign/Likely benign rs7336216 GRCh37 Chromosome 13, 25486977: 25486977
6 CENPJ NM_018451.4(CENPJ): c.187G> C (p.Asp63His) single nucleotide variant Benign/Likely benign rs7336216 GRCh38 Chromosome 13, 24912839: 24912839
7 CENPJ NM_018451.4(CENPJ): c.2635T> G (p.Ser879Ala) single nucleotide variant Benign/Likely benign rs17402892 GRCh37 Chromosome 13, 25479541: 25479541
8 CENPJ NM_018451.4(CENPJ): c.2635T> G (p.Ser879Ala) single nucleotide variant Benign/Likely benign rs17402892 GRCh38 Chromosome 13, 24905403: 24905403
9 CENPJ NM_018451.4(CENPJ): c.61A> G (p.Met21Val) single nucleotide variant Benign rs35498994 GRCh37 Chromosome 13, 25487103: 25487103
10 CENPJ NM_018451.4(CENPJ): c.61A> G (p.Met21Val) single nucleotide variant Benign rs35498994 GRCh38 Chromosome 13, 24912965: 24912965
11 ATR NM_001184.3(ATR): c.632T> C (p.Met211Thr) single nucleotide variant Benign/Likely benign rs2227928 GRCh37 Chromosome 3, 142281612: 142281612
12 ATR NM_001184.3(ATR): c.632T> C (p.Met211Thr) single nucleotide variant Benign/Likely benign rs2227928 GRCh38 Chromosome 3, 142562770: 142562770
13 ATR NM_001184.3(ATR): c.7875G> A (p.Gln2625=) single nucleotide variant Benign/Likely benign rs1802904 GRCh37 Chromosome 3, 142168331: 142168331
14 ATR NM_001184.3(ATR): c.7875G> A (p.Gln2625=) single nucleotide variant Benign/Likely benign rs1802904 GRCh38 Chromosome 3, 142449489: 142449489
15 CEP152 NM_014985.3(CEP152): c.3466+8G> C single nucleotide variant Benign rs2306187 GRCh37 Chromosome 15, 49044538: 49044538
16 CEP152 NM_014985.3(CEP152): c.3466+8G> C single nucleotide variant Benign rs2306187 GRCh38 Chromosome 15, 48752341: 48752341
17 CEP152 NM_014985.3(CEP152): c.3926-9A> T single nucleotide variant Conflicting interpretations of pathogenicity rs80090788 GRCh37 Chromosome 15, 49031494: 49031494
18 CEP152 NM_014985.3(CEP152): c.3926-9A> T single nucleotide variant Conflicting interpretations of pathogenicity rs80090788 GRCh38 Chromosome 15, 48739297: 48739297
19 CENPJ NM_018451.4(CENPJ): c.1881G> A (p.Pro627=) single nucleotide variant Benign/Likely benign rs75985315 GRCh37 Chromosome 13, 25480295: 25480295
20 CENPJ NM_018451.4(CENPJ): c.1881G> A (p.Pro627=) single nucleotide variant Benign/Likely benign rs75985315 GRCh38 Chromosome 13, 24906157: 24906157
21 RBBP8 NM_002894.2(RBBP8): c.1071A> C (p.Lys357Asn) single nucleotide variant Likely benign rs34678569 GRCh37 Chromosome 18, 20572861: 20572861
22 RBBP8 NM_002894.2(RBBP8): c.1071A> C (p.Lys357Asn) single nucleotide variant Likely benign rs34678569 GRCh38 Chromosome 18, 22992898: 22992898
23 RBBP8 NM_002894.2(RBBP8): c.1367A> G (p.His456Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139743319 GRCh37 Chromosome 18, 20573157: 20573157
24 RBBP8 NM_002894.2(RBBP8): c.1367A> G (p.His456Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139743319 GRCh38 Chromosome 18, 22993194: 22993194
25 RBBP8 NM_002894.2(RBBP8): c.1644T> C (p.Asp548=) single nucleotide variant Conflicting interpretations of pathogenicity rs34780140 GRCh37 Chromosome 18, 20573434: 20573434
26 RBBP8 NM_002894.2(RBBP8): c.1644T> C (p.Asp548=) single nucleotide variant Conflicting interpretations of pathogenicity rs34780140 GRCh38 Chromosome 18, 22993471: 22993471
27 RBBP8 NM_002894.2(RBBP8): c.2115G> A (p.Lys705=) single nucleotide variant Benign rs17852769 GRCh37 Chromosome 18, 20577669: 20577669
28 RBBP8 NM_002894.2(RBBP8): c.2115G> A (p.Lys705=) single nucleotide variant Benign rs17852769 GRCh38 Chromosome 18, 22997706: 22997706
29 ATR NM_001184.3(ATR): c.7274G> A (p.Arg2425Gln) single nucleotide variant Benign/Likely benign rs2229032 GRCh37 Chromosome 3, 142178144: 142178144
30 ATR NM_001184.3(ATR): c.7274G> A (p.Arg2425Gln) single nucleotide variant Benign/Likely benign rs2229032 GRCh38 Chromosome 3, 142459302: 142459302
31 ATR NM_001184.3(ATR): c.5460T> C (p.Tyr1820=) single nucleotide variant Benign/Likely benign rs2227932 GRCh37 Chromosome 3, 142217537: 142217537
32 ATR NM_001184.3(ATR): c.5460T> C (p.Tyr1820=) single nucleotide variant Benign/Likely benign rs2227932 GRCh38 Chromosome 3, 142498695: 142498695
33 CENPJ NM_018451.4(CENPJ): c.1560A> T (p.Thr520=) single nucleotide variant Benign/Likely benign rs17081368 GRCh37 Chromosome 13, 25480616: 25480616
34 CENPJ NM_018451.4(CENPJ): c.1560A> T (p.Thr520=) single nucleotide variant Benign/Likely benign rs17081368 GRCh38 Chromosome 13, 24906478: 24906478
35 CEP152 NM_014985.3(CEP152): c.161C> T (p.Ser54Leu) single nucleotide variant Benign/Likely benign rs2289181 GRCh38 Chromosome 15, 48797978: 48797978
36 CEP152 NM_014985.3(CEP152): c.161C> T (p.Ser54Leu) single nucleotide variant Benign/Likely benign rs2289181 GRCh37 Chromosome 15, 49090175: 49090175
37 CEP152 NM_014985.3(CEP152): c.691+9C> T single nucleotide variant Benign/Likely benign rs77732888 GRCh38 Chromosome 15, 48796001: 48796001
38 CEP152 NM_014985.3(CEP152): c.691+9C> T single nucleotide variant Benign/Likely benign rs77732888 GRCh37 Chromosome 15, 49088198: 49088198
39 CEP152 NM_014985.3(CEP152): c.2019-13G> A single nucleotide variant Benign/Likely benign rs9302144 GRCh38 Chromosome 15, 48767476: 48767476
40 CEP152 NM_014985.3(CEP152): c.2019-13G> A single nucleotide variant Benign/Likely benign rs9302144 GRCh37 Chromosome 15, 49059673: 49059673
41 CEP152 NM_014985.3(CEP152): c.2378G> T (p.Ser793Ile) single nucleotide variant Benign/Likely benign rs2289178 GRCh38 Chromosome 15, 48762575: 48762575
42 CEP152 NM_014985.3(CEP152): c.2378G> T (p.Ser793Ile) single nucleotide variant Benign/Likely benign rs2289178 GRCh37 Chromosome 15, 49054772: 49054772
43 CEP152 NM_014985.3(CEP152): c.2740C> G (p.Leu914Val) single nucleotide variant Benign/Likely benign rs16961560 GRCh38 Chromosome 15, 48756508: 48756508
44 CEP152 NM_014985.3(CEP152): c.2740C> G (p.Leu914Val) single nucleotide variant Benign/Likely benign rs16961560 GRCh37 Chromosome 15, 49048705: 49048705
45 ATR NM_001184.3(ATR): c.1326A> G (p.Lys442=) single nucleotide variant Benign/Likely benign rs28897765 GRCh37 Chromosome 3, 142280108: 142280108
46 ATR NM_001184.3(ATR): c.1326A> G (p.Lys442=) single nucleotide variant Benign/Likely benign rs28897765 GRCh38 Chromosome 3, 142561266: 142561266
47 ATR NM_001184.3(ATR): c.1776T> A (p.Gly592=) single nucleotide variant Benign/Likely benign rs2227930 GRCh37 Chromosome 3, 142277575: 142277575
48 ATR NM_001184.3(ATR): c.1776T> A (p.Gly592=) single nucleotide variant Benign/Likely benign rs2227930 GRCh38 Chromosome 3, 142558733: 142558733
49 ATR NM_001184.3(ATR): c.1815T> C (p.Asp605=) single nucleotide variant Benign rs2227929 GRCh37 Chromosome 3, 142277536: 142277536
50 ATR NM_001184.3(ATR): c.1815T> C (p.Asp605=) single nucleotide variant Benign rs2227929 GRCh38 Chromosome 3, 142558694: 142558694
Sources

Expression for Seckel Syndrome

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

Pathways for Seckel Syndrome

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Pathways related to Seckel Syndrome according to KEGG:

37
# 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
DNA Double-Strand Break Repair 66
Show member pathways
 12.91 ATR ATRIP DNA2 LIG4 MIR4741 RBBP8
2
Regulation of TP53 Activity 66
Show member pathways
 12.62 ATR ATRIP CENPJ DNA2 MIR4741 RBBP8
3
Cell Cycle, Mitotic 66
Show member pathways
 12.56 ATR ATRIP CENPE CENPJ CEP152 CEP63
4
Organelle biogenesis and maintenance 66
Show member pathways
 12.53 CENPJ CEP152 CEP63 PCNT PLK4
5
Cell Cycle Checkpoints 66
Show member pathways
 12.34 ATR ATRIP DNA2 MIR4741 RBBP8
6
DNA Damage 4
12.1 ATR ATRIP CENPE LIG4 MCPH1 RBBP8
7
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 11.95 ATR ATRIP DNA2 MIR4741 RBBP8
8
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 66
Show member pathways
 11.81 DNA2 MIR4741 RBBP8
9
BARD1 signaling events 1
10.94 ATR RBBP8
10
ATM Signaling Network in Development and Disease 1
10.92 ATR CEP63 MIR4741 RBBP8
Sources

GO Terms for Seckel Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.81 CENPE CENPJ CEP152 CEP63 CNTLN MCPH1
2 microtubule GO:0005874 9.76 CENPE CENPJ NIN PCNT
3 microtubule organizing center GO:0005815 9.73 CENPJ CEP152 CEP63 MCPH1 NIN PCNT
4 nuclear chromosome, telomeric region GO:0000784 9.58 ATR DNA2 LIG4
5 centrosome GO:0005813 9.5 CENPJ CEP152 CEP63 CNTLN NIN PCNT
6 pericentriolar material GO:0000242 9.43 CEP152 NIN
7 deuterosome GO:0098536 9.37 CEP152 PLK4
8 centriole GO:0005814 9.17 CENPJ CEP152 CEP63 CNTLN NIN PCNT
9 nucleoplasm GO:0005654 10.06 ATR ATRIP CENPE CENPJ CEP152 CNTLN

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.93 CENPE CEP63 LIG4 NSMCE2 RBBP8
2 cell division GO:0051301 9.93 CENPE CENPJ CEP63 LIG4 NSMCE2 RBBP8
3 DNA repair GO:0006281 9.91 ATR ATRIP DNA2 LIG4 NSMCE2 RBBP8
4 cellular response to DNA damage stimulus GO:0006974 9.91 ATR ATRIP CEP63 DNA2 LIG4 NSMCE2
5 DNA replication GO:0006260 9.8 ATR ATRIP DNA2 LIG4 RBBP8
6 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.72 ATRIP DNA2 RBBP8
7 G2/M transition of mitotic cell cycle GO:0000086 9.72 CENPJ CEP152 CEP63 PCNT PLK4
8 DNA damage checkpoint GO:0000077 9.65 ATR ATRIP CEP63
9 ciliary basal body-plasma membrane docking GO:0097711 9.65 CENPJ CEP152 CEP63 PCNT PLK4
10 centrosome duplication GO:0051298 9.52 CENPJ CEP152
11 DNA double-strand break processing GO:0000729 9.51 DNA2 RBBP8
12 centriole-centriole cohesion GO:0010457 9.49 CNTLN NIN
13 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.35 CENPJ CEP152 CEP63 PCNT PLK4
14 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.33 CEP152 CEP63 PLK4
15 centriole replication GO:0007099 8.92 CENPJ CEP152 CEP63 PLK4

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 8.92 ATR DNA2 LIG4 PLK4
Sources

Sources for Seckel Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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