MCID: SCK004
MIFTS: 54

Seckel Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Seckel Syndrome

MalaCards integrated aliases for Seckel Syndrome:

Name: Seckel Syndrome 12 77 54 60 38 30 56 6 15 41 74
Bird-Headed Dwarfism 12 54
Microcephalic Primordial Dwarfism 12
Virchow-Seckel Dwarfism 12
Nanocephalic Dwarfism 54
Seckel-Type Dwarfism 54
Harper's Syndrome 12
Sckl 54

Characteristics:

Orphanet epidemiological data:

60
seckel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050569
KEGG 38 H00992
ICD10 34 Q87.1
MESH via Orphanet 46 C537533
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C0265202
Orphanet 60 ORPHA808
UMLS 74 C0265202

Summaries for Seckel Syndrome

NIH Rare Diseases : 54 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 5 and seckel syndrome 2, 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 delayed skeletal maturation

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

Wikipedia : 77 Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper''s... more...

Related Diseases for Seckel Syndrome

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 75)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 5 34.4 CENPJ CEP152 RNF17
2 seckel syndrome 2 34.4 ATR CENPJ CEP152 RBBP8
3 seckel syndrome 1 34.3 ATR CENPJ CEP152 RBBP8
4 seckel syndrome 4 34.1 CENPJ CNTLN PCNT RNF17
5 microcephalic osteodysplastic primordial dwarfism, type ii 32.3 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 microcephaly 13, primary, autosomal recessive 30.4 CENPE MCPH1
9 isolated growth hormone deficiency, type ia 30.2 CNTLN DNA2 PCNT RNU4ATAC TRAIP
10 primary microcephaly 29.9 CENPJ CEP152 CEP63 MCPH1
11 microcephaly 29.1 ATR CENPE CENPJ CEP152 CEP63 LIG4
12 microcephalic primordial dwarfism, toriello type 12.7
13 seckel syndrome 8 12.5
14 seckel syndrome 6 12.5
15 seckel syndrome 7 12.5
16 microcephalic primordial dwarfism-insulin resistance syndrome 12.5
17 seckel syndrome 9 12.5
18 seckel syndrome 10 12.4
19 microcephalic primordial dwarfism, montreal type 12.1
20 bangstad syndrome 11.7
21 microcephaly 10, primary, autosomal recessive 11.6
22 seckel like syndrome majoor-krakauer type 11.5
23 microcephaly, short stature, and polymicrogyria with or without seizures 11.5
24 alazami syndrome 11.5
25 nijmegen breakage syndrome 11.1
26 microcephalic osteodysplastic primordial dwarfism, type iii 10.3
27 microcephaly, growth deficiency, seizures, and brain malformations 10.3
28 galloway-mowat syndrome 6 10.3
29 cataract 10.3
30 microcephalic osteodysplastic primordial dwarfism, type i 10.2 PCNT RNU4ATAC
31 microcephaly 17, primary, autosomal recessive 10.1 CENPJ CEP152 CEP63 MCPH1
32 primary autosomal recessive microcephaly 10.1 CENPJ CEP152 MCPH1
33 microcephaly 12, primary, autosomal recessive 10.1 CENPJ CEP152 CEP63 MCPH1
34 microcephaly 8, primary, autosomal recessive 10.1 CEP63 CNTLN
35 holoprosencephaly 10.1
36 cleft lip 10.1
37 semilobar holoprosencephaly 10.1
38 microcephaly 18, primary, autosomal dominant 10.0 CENPE CENPJ CEP152 CEP63 MCPH1
39 corneal dystrophy, meesmann 10.0 CEP152 CNTLN
40 physical disorder 10.0 CENPJ CEP63 MCPH1 RNU4ATAC
41 microcephaly 3, primary, autosomal recessive 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
42 microcephaly 6, primary, autosomal recessive 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
43 microcephaly 4, primary, autosomal recessive 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
44 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
45 microcephaly 5, primary, autosomal recessive 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
46 congenital nervous system abnormality 9.9 CENPJ CEP152 CEP63 MCPH1 RNU4ATAC
47 microcephaly 7, primary, autosomal recessive 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
48 retinal detachment 9.9
49 tetralogy of fallot 9.9
50 ataxia-telangiectasia 9.9

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



Diseases related to Seckel Syndrome

Symptoms & Phenotypes for Seckel Syndrome

Human phenotypes related to Seckel Syndrome:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
8 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
9 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
10 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
11 prematurely aged appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0007495
12 sandal gap 60 33 hallmark (90%) Very frequent (99-80%) HP:0001852
13 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
14 craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001363
15 mild global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011342
16 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385
17 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
18 cone-shaped epiphysis 60 33 frequent (33%) Frequent (79-30%) HP:0010579
19 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
20 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
21 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
22 sparse scalp hair 60 33 frequent (33%) Frequent (79-30%) HP:0002209
23 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
24 absent earlobe 60 33 frequent (33%) Frequent (79-30%) HP:0000387
25 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
26 abnormality of earlobe 60 Frequent (79-30%)

UMLS symptoms related to Seckel Syndrome:


seizures

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

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10 LIG4 NIN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10 NIN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10 LIG4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10 DNA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10 LIG4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10 LIG4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10 DNA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10 DNA2 LIG4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10 DNA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10 LIG4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10 LIG4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10 DNA2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10 NIN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10 LIG4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10 DNA2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10 NIN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10 DNA2 LIG4 NIN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10 LIG4
19 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:

47
# 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

Drugs & Therapeutics for Seckel Syndrome

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

Genetic Tests for Seckel Syndrome

Genetic tests related to Seckel Syndrome:

# Genetic test Affiliating Genes
1 Seckel Syndrome 30

Anatomical Context for Seckel Syndrome

MalaCards organs/tissues related to Seckel Syndrome:

42
Eye, Bone, Bone Marrow, Kidney, T Cells, Myeloid

Publications for Seckel Syndrome

Articles related to Seckel Syndrome:

(show top 50) (show all 115)
# Title Authors Year
1
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. ( 29284336 )
2019
2
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. ( 30846821 )
2019
3
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. ( 29504900 )
2018
4
Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature. ( 29894776 )
2018
5
Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report. ( 30090148 )
2018
6
Nucleolar residence of the seckel syndrome protein TRAIP is coupled to ribosomal DNA transcription. ( 30165463 )
2018
7
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. ( 30199583 )
2018
8
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. ( 27639833 )
2017
9
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. ( 28832566 )
2017
10
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
11
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
12
Seckel syndrome with severe sinus bradycardia. ( 25186569 )
2015
13
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. ( 26150138 )
2015
14
Mutations in CDK5RAP2 cause Seckel syndrome. ( 26436113 )
2015
15
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. ( 26755913 )
2015
16
Fecalith causing intestinal obstruction in a patient with seckel syndrome. ( 25057475 )
2014
17
Bilateral retinal detachment in Seckel syndrome. ( 25284118 )
2014
18
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. ( 24483323 )
2014
19
Seckel syndrome: a rare case report. ( 24739918 )
2014
20
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. ( 24907886 )
2014
21
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
22
Antenatal diagnosis of seckel syndrome. ( 25404793 )
2014
23
Antenatal diagnosis of Seckel Syndrome: a rare case report. ( 26266004 )
2014
24
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. ( 22027933 )
2013
25
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. ( 23401567 )
2013
26
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
27
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. ( 21669506 )
2012
28
Visual vignette. Seckel syndrome. ( 22592053 )
2012
29
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. ( 22869956 )
2012
30
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ( 23144622 )
2012
31
An unusual presentation of Seckel syndrome: fatty liver. ( 23161319 )
2012
32
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. ( 23166506 )
2012
33
Seckel syndrome: a report of a case. ( 23263432 )
2012
34
Palatoplasty in a patient with Seckel syndrome. ( 23482443 )
2012
35
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. ( 21131973 )
2011
36
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. ( 21395565 )
2011
37
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. ( 22308854 )
2011
38
Open and closed lip schizencephaly in Seckel syndrome: a case report. ( 19794099 )
2010
39
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
40
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? ( 20393849 )
2010
41
A case of Seckel syndrome with Tetralogy of Fallot. ( 20420029 )
2010
42
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010
43
Dental manifestations associated with Seckel syndrome type II: a case report. ( 21070714 )
2010
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
Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging. ( 19244074 )
2009
46
Seckel syndrome and moyamoya. ( 19338412 )
2009
47
Seckel syndrome with chromosomal 18 deletion. ( 20012807 )
2009
48
An anesthetic experience in a patient with Seckel syndrome: A case report. ( 30625723 )
2009
49
Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report. ( 30625818 )
2009
50
Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. ( 18984961 )
2008

Variations for Seckel Syndrome

ClinVar genetic disease variations for Seckel Syndrome:

6 (show top 50) (show all 524)
# 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

Expression for Seckel Syndrome

Search GEO for disease gene expression data for Seckel Syndrome.

Pathways for Seckel Syndrome

Pathways related to Seckel Syndrome according to KEGG:

38
# 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
Show member pathways
12.91 ATR ATRIP DNA2 LIG4 MIR4741 RBBP8
2
Show member pathways
12.62 ATR ATRIP CENPJ DNA2 MIR4741 RBBP8
3
Show member pathways
12.56 ATR ATRIP CENPE CENPJ CEP152 CEP63
4
Show member pathways
12.53 CENPJ CEP152 CEP63 PCNT PLK4
5
Show member pathways
12.34 ATR ATRIP DNA2 MIR4741 RBBP8
6 12.1 ATR ATRIP CENPE LIG4 MCPH1 RBBP8
7
Show member pathways
11.95 ATR ATRIP DNA2 MIR4741 RBBP8
8
Show member pathways
11.81 DNA2 MIR4741 RBBP8
9 10.94 ATR RBBP8
10 10.92 ATR CEP63 MIR4741 RBBP8

GO Terms for Seckel Syndrome

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 for Seckel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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