Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: SCK004
MIFTS: 54

Seckel Syndrome

Categories: Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Seckel Syndrome

About this section

MalaCards integrated aliases for Seckel Syndrome:

Name: Seckel Syndrome 12 76 53 59 37 29 55 6 15 40 73
Microcephalic Primordial Dwarfism 12 6
Bird-Headed Dwarfism 12 53
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
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
Sources

Summaries for Seckel Syndrome

About this section
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 microcephalic primordial dwarfism, is related to seckel syndrome 4 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 microcephaly and narrow face

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

Wikipedia : 76 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Sources

Related Diseases for Seckel Syndrome

About this section

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 57)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 4 34.3 CENPJ PCNT RNF17
2 seckel syndrome 5 34.3 CENPJ CEP152 RNF17
3 microcephalic osteodysplastic primordial dwarfism, type ii 31.4 CENPJ CEP63 CNTLN PCNT
4 dwarfism 30.4 DNA2 NSMCE2 PCNT RNU4ATAC
5 isolated growth hormone deficiency, type ia 29.5 CNTLN DNA2 PCNT RNU4ATAC TRAIP
6 microcephaly 28.1 ATR CENPE CENPJ CEP152 CEP63 LIG4
7 microcephalic primordial dwarfism, toriello type 12.5
8 seckel syndrome 1 12.4
9 seckel syndrome 2 12.3
10 seckel syndrome 8 12.3
11 seckel syndrome 6 12.3
12 seckel syndrome 7 12.3
13 seckel syndrome 9 12.2
14 seckel syndrome 10 12.2
15 primary autosomal recessive microcephalies and seckel syndrome spectrum disorders 12.0
16 microcephalic primordial dwarfism, montreal type 11.5
17 bangstad syndrome 11.5
18 nijmegen breakage syndrome 10.9
19 microcephalic osteodysplastic primordial dwarfism, type i 10.3 PCNT RNU4ATAC
20 autosomal recessive primary microcephaly 10.2 CENPJ MCPH1
21 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
22 holoprosencephaly 9.9
23 cleft lip 9.9
24 semilobar holoprosencephaly 9.9
25 corneal dystrophy, meesmann 9.9 CEP152 CNTLN
26 mirror movements 1 9.7
27 retinal detachment 9.7
28 tetralogy of fallot 9.7
29 ataxia-telangiectasia 9.7
30 fanconi anemia, complementation group a 9.7
31 schizencephaly 9.7
32 dermatitis, atopic 9.7
33 tricuspid atresia 9.7
34 lig4 syndrome 9.7
35 aplastic anemia 9.7
36 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
37 polyarteritis nodosa, childhood-onset 9.7
38 craniosynostosis 9.7
39 hepatitis 9.7
40 nephrolithiasis 9.7
41 oligomeganephronia 9.7
42 malignant hypertension 9.7
43 intracranial aneurysm 9.7
44 dermatitis 9.7
45 cerebritis 9.7
46 retinitis 9.7
47 intestinal obstruction 9.7
48 fatty liver disease 9.7
49 polyarteritis nodosa 9.7
50 type i 9.7

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



Diseases related to Seckel Syndrome
Sources

Symptoms & Phenotypes for Seckel Syndrome

About this section

Human phenotypes related to Seckel Syndrome:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 absent earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0000387
5 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
6 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
7 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
8 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
9 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
10 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
11 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
12 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
13 sandal gap 59 32 hallmark (90%) Very frequent (99-80%) HP:0001852
14 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
15 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
16 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
17 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
18 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
19 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
20 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
21 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
22 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
23 cone-shaped epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0010579
24 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
25 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
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 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 LIG4 DNA2
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 LIG4 NIN DNA2
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:

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 CEP152 NSMCE2 PLK4 RBBP8 TRAIP ATR
3 endocrine/exocrine gland MP:0005379 9.23 ATR CENPJ CEP63 LIG4 MCPH1 NSMCE2
Sources

Drugs & Therapeutics for Seckel Syndrome

About this section

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

Sources

Genetic Tests for Seckel Syndrome

About this section

Genetic tests related to Seckel Syndrome:

# Genetic test Affiliating Genes
1 Seckel Syndrome 29
Sources

Anatomical Context for Seckel Syndrome

About this section

MalaCards organs/tissues related to Seckel Syndrome:

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

Publications for Seckel Syndrome

About this section

Articles related to Seckel Syndrome:

(show top 50) (show all 102)
# 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
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. ( 29284336 )
2017
4
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. ( 28832566 )
2017
5
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
6
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
7
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. ( 27639833 )
2016
8
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. ( 26150138 )
2015
9
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. ( 26755913 )
2015
10
Mutations in CDK5RAP2 cause Seckel syndrome. ( 26436113 )
2015
11
Seckel Syndrome with Severe Sinus Bradycardia. ( 25186569 )
2014
12
Antenatal diagnosis of Seckel Syndrome: a rare case report. ( 26266004 )
2014
13
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
14
Seckel syndrome: a rare case report. ( 24739918 )
2014
15
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. ( 24907886 )
2014
16
Bilateral retinal detachment in Seckel syndrome. ( 25284118 )
2014
17
Antenatal diagnosis of seckel syndrome. ( 25404793 )
2014
18
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. ( 24483323 )
2014
19
Fecalith causing intestinal obstruction in a patient with seckel syndrome. ( 25057475 )
2014
20
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. ( 23401567 )
2013
21
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. ( 22027933 )
2013
22
Visual vignette. Seckel syndrome. ( 22592053 )
2012
23
An unusual presentation of Seckel syndrome: fatty liver. ( 23161319 )
2012
24
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ( 23144622 )
2012
25
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. ( 21669506 )
2012
26
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. ( 22869956 )
2012
27
Palatoplasty in a patient with Seckel syndrome. ( 23482443 )
2012
28
Seckel syndrome: a report of a case. ( 23263432 )
2012
29
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. ( 23166506 )
2012
30
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
31
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. ( 21395565 )
2011
32
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. ( 22308854 )
2011
33
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. ( 21131973 )
2011
34
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? ( 20393849 )
2010
35
Dental manifestations associated with Seckel syndrome type II: a case report. ( 21070714 )
2010
36
Open and closed lip schizencephaly in Seckel syndrome: a case report. ( 19794099 )
2010
37
A case of Seckel syndrome with Tetralogy of Fallot. ( 20420029 )
2010
38
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010
39
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
40
Seckel syndrome with chromosomal 18 deletion. ( 20012807 )
2009
41
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
42
Seckel syndrome and moyamoya. ( 19338412 )
2009
43
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
44
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. ( 18616496 )
2008
45
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. ( 18157127 )
2008
46
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. ( 18503579 )
2008
47
Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. ( 18984961 )
2008
48
Seckel syndrome and spontaneously dislocated lenses. ( 17466870 )
2007
49
Seckel syndrome with Morgagni hernia. ( 17551341 )
2007
50
Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. ( 17300651 )
2007
Sources

Variations for Seckel Syndrome

About this section

ClinVar genetic disease variations for Seckel Syndrome:

6
(show top 50) (show all 482)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATR NM_001184.3(ATR): c.1326A> G (p.Lys442=) single nucleotide variant Benign/Likely benign rs28897765 GRCh37 Chromosome 3, 142280108: 142280108
2 ATR NM_001184.3(ATR): c.1326A> G (p.Lys442=) single nucleotide variant Benign/Likely benign rs28897765 GRCh38 Chromosome 3, 142561266: 142561266
3 ATR NM_001184.3(ATR): c.1776T> A (p.Gly592=) single nucleotide variant Benign/Likely benign rs2227930 GRCh37 Chromosome 3, 142277575: 142277575
4 ATR NM_001184.3(ATR): c.1776T> A (p.Gly592=) single nucleotide variant Benign/Likely benign rs2227930 GRCh38 Chromosome 3, 142558733: 142558733
5 ATR NM_001184.3(ATR): c.1815T> C (p.Asp605=) single nucleotide variant Benign rs2227929 GRCh37 Chromosome 3, 142277536: 142277536
6 ATR NM_001184.3(ATR): c.1815T> C (p.Asp605=) single nucleotide variant Benign rs2227929 GRCh38 Chromosome 3, 142558694: 142558694
7 ATR NM_001184.3(ATR): c.1950G> A (p.Glu650=) single nucleotide variant Benign/Likely benign rs28910270 GRCh37 Chromosome 3, 142275353: 142275353
8 ATR NM_001184.3(ATR): c.1950G> A (p.Glu650=) single nucleotide variant Benign/Likely benign rs28910270 GRCh38 Chromosome 3, 142556511: 142556511
9 ATR NM_001184.3(ATR): c.2205C> T (p.His735=) single nucleotide variant Conflicting interpretations of pathogenicity rs148955716 GRCh37 Chromosome 3, 142274855: 142274855
10 ATR NM_001184.3(ATR): c.2205C> T (p.His735=) single nucleotide variant Conflicting interpretations of pathogenicity rs148955716 GRCh38 Chromosome 3, 142556013: 142556013
11 ATR NM_001184.3(ATR): c.2442A> G (p.Glu814=) single nucleotide variant Benign/Likely benign rs55895932 GRCh37 Chromosome 3, 142272757: 142272757
12 ATR NM_001184.3(ATR): c.2442A> G (p.Glu814=) single nucleotide variant Benign/Likely benign rs55895932 GRCh38 Chromosome 3, 142553915: 142553915
13 ATR NM_001184.3(ATR): c.2688G> A (p.Leu896=) single nucleotide variant Uncertain significance rs117926957 GRCh37 Chromosome 3, 142272186: 142272186
14 ATR NM_001184.3(ATR): c.2688G> A (p.Leu896=) single nucleotide variant Uncertain significance rs117926957 GRCh38 Chromosome 3, 142553344: 142553344
15 ATR NM_001184.3(ATR): c.2875G> A (p.Val959Met) single nucleotide variant Benign/Likely benign rs28910271 GRCh37 Chromosome 3, 142269075: 142269075
16 ATR NM_001184.3(ATR): c.2875G> A (p.Val959Met) single nucleotide variant Benign/Likely benign rs28910271 GRCh38 Chromosome 3, 142550233: 142550233
17 ATR NM_001184.3(ATR): c.3120G> A (p.Leu1040=) single nucleotide variant Benign/Likely benign rs28910272 GRCh37 Chromosome 3, 142268372: 142268372
18 ATR NM_001184.3(ATR): c.3120G> A (p.Leu1040=) single nucleotide variant Benign/Likely benign rs28910272 GRCh38 Chromosome 3, 142549530: 142549530
19 ATR NM_001184.3(ATR): c.4002G> A (p.Gln1334=) single nucleotide variant Benign/Likely benign rs56026468 GRCh37 Chromosome 3, 142242985: 142242985
20 ATR NM_001184.3(ATR): c.4002G> A (p.Gln1334=) single nucleotide variant Benign/Likely benign rs56026468 GRCh38 Chromosome 3, 142524143: 142524143
21 ATR NM_001184.3(ATR): c.423T> C (p.Ile141=) single nucleotide variant Conflicting interpretations of pathogenicity rs10935466 GRCh37 Chromosome 3, 142281821: 142281821
22 ATR NM_001184.3(ATR): c.423T> C (p.Ile141=) single nucleotide variant Conflicting interpretations of pathogenicity rs10935466 GRCh38 Chromosome 3, 142562979: 142562979
23 ATR NM_001184.3(ATR): c.4351C> T (p.Arg1451Trp) single nucleotide variant Uncertain significance rs148064542 GRCh37 Chromosome 3, 142238542: 142238542
24 ATR NM_001184.3(ATR): c.4351C> T (p.Arg1451Trp) single nucleotide variant Uncertain significance rs148064542 GRCh38 Chromosome 3, 142519700: 142519700
25 ATR NM_001184.3(ATR): c.4641+15C> T single nucleotide variant Uncertain significance rs200619976 GRCh37 Chromosome 3, 142232328: 142232328
26 ATR NM_001184.3(ATR): c.4641+15C> T single nucleotide variant Uncertain significance rs200619976 GRCh38 Chromosome 3, 142513486: 142513486
27 ATR NM_001184.3(ATR): c.4835A> G (p.Asn1612Ser) single nucleotide variant Benign/Likely benign rs55894265 GRCh37 Chromosome 3, 142231119: 142231119
28 ATR NM_001184.3(ATR): c.4835A> G (p.Asn1612Ser) single nucleotide variant Benign/Likely benign rs55894265 GRCh38 Chromosome 3, 142512277: 142512277
29 ATR NM_001184.3(ATR): c.5208T> C (p.Tyr1736=) single nucleotide variant Benign/Likely benign rs2227931 GRCh37 Chromosome 3, 142222284: 142222284
30 ATR NM_001184.3(ATR): c.5208T> C (p.Tyr1736=) single nucleotide variant Benign/Likely benign rs2227931 GRCh38 Chromosome 3, 142503442: 142503442
31 ATR NM_001184.3(ATR): c.5868C> T (p.Tyr1956=) single nucleotide variant Benign/Likely benign rs112018640 GRCh37 Chromosome 3, 142215233: 142215233
32 ATR NM_001184.3(ATR): c.5868C> T (p.Tyr1956=) single nucleotide variant Benign/Likely benign rs112018640 GRCh38 Chromosome 3, 142496391: 142496391
33 ATR NM_001184.3(ATR): c.6339A> G (p.Val2113=) single nucleotide variant Likely benign rs7635479 GRCh37 Chromosome 3, 142188392: 142188392
34 ATR NM_001184.3(ATR): c.6339A> G (p.Val2113=) single nucleotide variant Likely benign rs7635479 GRCh38 Chromosome 3, 142469550: 142469550
35 ATR NM_001184.3(ATR): c.7300C> G (p.Pro2434Ala) single nucleotide variant Benign/Likely benign rs33972295 GRCh37 Chromosome 3, 142178118: 142178118
36 ATR NM_001184.3(ATR): c.7300C> G (p.Pro2434Ala) single nucleotide variant Benign/Likely benign rs33972295 GRCh38 Chromosome 3, 142459276: 142459276
37 ATR NM_001184.3(ATR): c.946G> A (p.Val316Ile) single nucleotide variant Benign/Likely benign rs28897764 GRCh37 Chromosome 3, 142281298: 142281298
38 ATR NM_001184.3(ATR): c.946G> A (p.Val316Ile) single nucleotide variant Benign/Likely benign rs28897764 GRCh38 Chromosome 3, 142562456: 142562456
39 CENPJ NM_018451.4(CENPJ): c.3704-14_3704-12delAAC deletion Benign rs34991318 GRCh37 Chromosome 13, 25458233: 25458235
40 CENPJ NM_018451.4(CENPJ): c.3704-14_3704-12delAAC deletion Benign rs34991318 GRCh38 Chromosome 13, 24884095: 24884097
41 CENPJ NM_018451.4(CENPJ): c.3367-12T> C single nucleotide variant Benign/Likely benign rs3742163 GRCh37 Chromosome 13, 25459536: 25459536
42 CENPJ NM_018451.4(CENPJ): c.3367-12T> C single nucleotide variant Benign/Likely benign rs3742163 GRCh38 Chromosome 13, 24885398: 24885398
43 CENPJ NM_018451.4(CENPJ): c.3216+7A> G single nucleotide variant Benign rs9318917 GRCh37 Chromosome 13, 25466774: 25466774
44 CENPJ NM_018451.4(CENPJ): c.3216+7A> G single nucleotide variant Benign rs9318917 GRCh38 Chromosome 13, 24892636: 24892636
45 CENPJ NM_018451.4(CENPJ): c.3042A> G (p.Glu1014=) single nucleotide variant Benign rs3742165 GRCh37 Chromosome 13, 25466955: 25466955
46 CENPJ NM_018451.4(CENPJ): c.3042A> G (p.Glu1014=) single nucleotide variant Benign rs3742165 GRCh38 Chromosome 13, 24892817: 24892817
47 CENPJ NM_018451.4(CENPJ): c.2852A> G (p.Gln951Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138675304 GRCh37 Chromosome 13, 25473696: 25473696
48 CENPJ NM_018451.4(CENPJ): c.2852A> G (p.Gln951Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138675304 GRCh38 Chromosome 13, 24899558: 24899558
49 CENPJ NM_018451.4(CENPJ): c.2806A> G (p.Ser936Gly) single nucleotide variant Uncertain significance rs75008861 GRCh37 Chromosome 13, 25478083: 25478083
50 CENPJ NM_018451.4(CENPJ): c.2806A> G (p.Ser936Gly) single nucleotide variant Uncertain significance rs75008861 GRCh38 Chromosome 13, 24903945: 24903945
Sources

Expression for Seckel Syndrome

About this section
Search GEO for disease gene expression data for Seckel Syndrome.
Sources

Pathways for Seckel Syndrome

About this section

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
 12.66 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
 12.29 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

About this section

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 9.61 ATR DNA2 LIG4
5 centrosome GO:0005813 9.5 CENPJ CEP152 CEP63 CNTLN NIN PCNT
6 pericentriolar material GO:0000242 9.4 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 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.95 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 9.87 ATR ATRIP CEP63 DNA2 LIG4 NSMCE2
5 regulation of signal transduction by p53 class mediator GO:1901796 9.8 ATR ATRIP DNA2 RBBP8
6 DNA replication GO:0006260 9.8 ATR ATRIP DNA2 LIG4 RBBP8
7 G2/M transition of mitotic cell cycle GO:0000086 9.77 CENPJ CEP152 CEP63 PCNT PLK4
8 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.73 ATRIP DNA2 RBBP8
9 DNA damage checkpoint GO:0000077 9.65 ATR ATRIP CEP63
10 ciliary basal body-plasma membrane docking GO:0097711 9.65 CENPJ CEP152 CEP63 PCNT PLK4
11 strand displacement GO:0000732 9.57 DNA2 RBBP8
12 centrosome duplication GO:0051298 9.54 CENPJ CEP152
13 DNA double-strand break processing GO:0000729 9.52 DNA2 RBBP8
14 centriole-centriole cohesion GO:0010457 9.51 CNTLN NIN
15 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.35 CENPJ CEP152 CEP63 PCNT PLK4
16 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.33 CEP152 CEP63 PLK4
17 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

About this section
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
Content
Loading form....