MCID: SCK004
MIFTS: 55

Seckel Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Seckel Syndrome

MalaCards integrated aliases for Seckel Syndrome:

Name: Seckel Syndrome 12 72 49 55 36 28 51 14 69
Bird-Headed Dwarfism 12 49
Microcephalic Primordial Dwarfism 12
Virchow-Seckel Dwarfism 12
Nanocephalic Dwarfism 49
Seckel-Type Dwarfism 49
Harper's Syndrome 12
Sckl 49

Characteristics:

Orphanet epidemiological data:

55
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
ICD10 32 Q87.1
Orphanet 55 ORPHA808
MESH via Orphanet 42 C537533
UMLS via Orphanet 70 C0265202
ICD10 via Orphanet 33 Q87.1
KEGG 36 H00992
UMLS 69 C0265202

Summaries for Seckel Syndrome

NIH Rare Diseases : 49 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. Last updated: 11/9/2015

MalaCards based summary : Seckel Syndrome, also known as bird-headed dwarfism, is related to seckel syndrome 5 and seckel syndrome 4, and has symptoms including microcephaly, narrow face and micrognathia. 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 Increased viability with MLN4924 (a NAE inhibitor) and cellular

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

Wikipedia : 72 The 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 53)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 5 34.0 CENPJ CEP152
2 seckel syndrome 4 33.9 CENPJ PCNT
3 microcephalic osteodysplastic primordial dwarfism, type ii 31.5 CENPJ CEP63 CNTLN PCNT
4 dwarfism 30.5 NSMCE2 PCNT PLK4 RNU4ATAC
5 fanconi anemia, complementation group a 29.7 ATRIP DNA2 FANCA LIG4
6 microcephaly 28.6 ATR CENPE CENPJ CEP152 CEP63 LIG4
7 microcephalic primordial dwarfism, toriello type 12.5
8 seckel syndrome 1 12.3
9 seckel syndrome 2 12.3
10 seckel syndrome 8 12.2
11 seckel syndrome 6 12.2
12 seckel syndrome 7 12.2
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 nijmegen breakage syndrome 10.9
18 microcephalic osteodysplastic primordial dwarfism, type i 10.2 PCNT RNU4ATAC
19 autosomal recessive primary microcephaly 10.0 CENPJ MCPH1
20 congenital nervous system abnormality 10.0 CENPJ CEP63 MCPH1 RNU4ATAC
21 physical disorder 10.0 CENPJ CEP63 MCPH1 RNU4ATAC
22 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
23 meier-gorlin syndrome 1 9.9 ATR ATRIP CEP152 CEP63 PCNT RNU4ATAC
24 holoprosencephaly 9.9
25 cleft lip 9.9
26 semilobar holoprosencephaly 9.9
27 blood group, i system 9.7
28 mirror movements 1 9.7
29 retinal detachment 9.7
30 tetralogy of fallot 9.7
31 ataxia-telangiectasia 9.7
32 schizencephaly 9.7
33 ataxia and polyneuropathy, adult-onset 9.7
34 severe combined immunodeficiency with sensitivity to ionizing radiation 9.7
35 dermatitis, atopic 9.7
36 tricuspid atresia 9.7
37 lig4 syndrome 9.7
38 aplastic anemia 9.7
39 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
40 polyarteritis nodosa, childhood-onset 9.7
41 arthrogryposis multiplex congenita, neurogenic, with myelin defect 9.7
42 craniosynostosis 9.7
43 hepatitis 9.7
44 malignant hypertension 9.7
45 intracranial aneurysm 9.7
46 dermatitis 9.7
47 cerebritis 9.7
48 retinitis 9.7
49 intestinal obstruction 9.7
50 polyarteritis nodosa 9.7

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:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 narrow face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000275
3 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 absent earlobe 55 31 frequent (33%) Frequent (79-30%) HP:0000387
5 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
6 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
7 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
8 abnormality of dental enamel 55 31 frequent (33%) Frequent (79-30%) HP:0000682
9 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
10 craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001363
11 hip dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001385
12 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
13 sandal gap 55 31 hallmark (90%) Very frequent (99-80%) HP:0001852
14 sparse scalp hair 55 31 frequent (33%) Frequent (79-30%) HP:0002209
15 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
17 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
18 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
19 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
20 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
21 prematurely aged appearance 55 31 hallmark (90%) Very frequent (99-80%) HP:0007495
22 reduced number of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0009804
23 cone-shaped epiphysis 55 31 frequent (33%) Frequent (79-30%) HP:0010579
24 mild global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011342
25 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
26 abnormality of earlobe 55 Frequent (79-30%)

UMLS symptoms related to Seckel Syndrome:


seizures

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 ATR DNA2 FANCA LIG4 MCPH1 NSMCE2

MGI Mouse Phenotypes related to Seckel Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ATR CENPE CENPJ CEP152 CEP63 DNA2
2 embryo MP:0005380 9.96 NSMCE2 PLK4 RBBP8 RTTN TRAIP ATR
3 mortality/aging MP:0010768 9.8 ATR ATRIP CENPE CENPJ CINP DNA2
4 endocrine/exocrine gland MP:0005379 9.76 LIG4 MCPH1 NSMCE2 PLK4 ATR CENPJ
5 neoplasm MP:0002006 9.1 ATR DNA2 FANCA LIG4 NSMCE2 RBBP8

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 28

Anatomical Context for Seckel Syndrome

MalaCards organs/tissues related to Seckel Syndrome:

38
Eye, Bone, Bone Marrow, T Cells, Liver, Myeloid

Publications for Seckel Syndrome

Articles related to Seckel Syndrome:

(show top 50) (show all 100)
# Title Authors Year
1
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. ( 29284336 )
2017
2
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. ( 28832566 )
2017
3
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. ( 27639833 )
2016
4
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
5
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
6
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. ( 26150138 )
2015
7
Mutations in CDK5RAP2 cause Seckel syndrome. ( 26436113 )
2015
8
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. ( 26755913 )
2015
9
Seckel Syndrome with Severe Sinus Bradycardia. ( 25186569 )
2014
10
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
11
Bilateral retinal detachment in Seckel syndrome. ( 25284118 )
2014
12
Antenatal diagnosis of Seckel Syndrome: a rare case report. ( 26266004 )
2014
13
Fecalith causing intestinal obstruction in a patient with seckel syndrome. ( 25057475 )
2014
14
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. ( 24907886 )
2014
15
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. ( 24483323 )
2014
16
Seckel syndrome: a rare case report. ( 24739918 )
2014
17
Antenatal diagnosis of seckel syndrome. ( 25404793 )
2014
18
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. ( 22027933 )
2013
19
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. ( 23401567 )
2013
20
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. ( 22869956 )
2012
21
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ( 23144622 )
2012
22
Seckel syndrome: a report of a case. ( 23263432 )
2012
23
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
24
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. ( 21669506 )
2012
25
Visual vignette. Seckel syndrome. ( 22592053 )
2012
26
An unusual presentation of Seckel syndrome: fatty liver. ( 23161319 )
2012
27
Palatoplasty in a patient with Seckel syndrome. ( 23482443 )
2012
28
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. ( 23166506 )
2012
29
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. ( 21395565 )
2011
30
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. ( 22308854 )
2011
31
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. ( 21131973 )
2011
32
Open and closed lip schizencephaly in Seckel syndrome: a case report. ( 19794099 )
2010
33
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
34
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010
35
Dental manifestations associated with Seckel syndrome type II: a case report. ( 21070714 )
2010
36
A case of Seckel syndrome with Tetralogy of Fallot. ( 20420029 )
2010
37
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? ( 20393849 )
2010
38
Seckel syndrome and moyamoya. ( 19338412 )
2009
39
Seckel syndrome with chromosomal 18 deletion. ( 20012807 )
2009
40
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
41
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. ( 18503579 )
2008
42
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
43
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. ( 18157127 )
2008
44
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. ( 18616496 )
2008
45
Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. ( 18984961 )
2008
46
Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. ( 17300651 )
2007
47
Anesthesia in a child with Seckel syndrome. ( 17897289 )
2007
48
Photo essay--Seckel syndrome. ( 17640052 )
2007
49
Seckel syndrome and spontaneously dislocated lenses. ( 17466870 )
2007
50
Seckel syndrome with Morgagni hernia. ( 17551341 )
2007

Variations for Seckel Syndrome

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:

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 ATR ATRIP DNA2 FANCA LIG4 RBBP8
2
Show member pathways
12.86 ATR ATRIP CENPE CENPJ CEP152 CEP63
3
Show member pathways
12.7 ATR ATRIP CENPJ DNA2 RBBP8
4
Show member pathways
12.53 CENPJ CEP152 CEP63 PCNT PLK4
5
Show member pathways
12.4 ATR ATRIP FANCA LIG4
6
Show member pathways
12.38 ATR ATRIP DNA2 RBBP8
7
Show member pathways
11.92 ATR ATRIP DNA2 RBBP8
8 11.64 ATR ATRIP CENPE FANCA LIG4 MCPH1
9 11.59 ATR ATRIP FANCA
10
Show member pathways
11.46 ATR FANCA RBBP8
11 11.1 ATR CEP63 RBBP8
12 10.79 ATR FANCA 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 9.85 CENPE CENPJ CEP152 CEP63 CNTLN MCPH1
2 microtubule GO:0005874 9.73 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 9.63 ATR DNA2 LIG4
5 centrosome GO:0005813 9.56 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 10.1 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 division GO:0051301 9.98 CENPE CENPJ CEP63 CINP LIG4 NSMCE2
2 G2/M transition of mitotic cell cycle GO:0000086 9.85 CENPJ CEP152 CEP63 PCNT PLK4
3 regulation of signal transduction by p53 class mediator GO:1901796 9.81 ATR ATRIP DNA2 RBBP8
4 ciliary basal body-plasma membrane docking GO:0097711 9.8 CENPJ CEP152 CEP63 PCNT PLK4
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.73 ATRIP DNA2 RBBP8
6 DNA replication GO:0006260 9.73 ATR ATRIP CINP DNA2 LIG4 RBBP8
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.72 CENPJ CEP152 CEP63 PCNT PLK4
8 interstrand cross-link repair GO:0036297 9.7 ATR ATRIP FANCA
9 DNA damage checkpoint GO:0000077 9.67 ATR ATRIP CEP63
10 strand displacement GO:0000732 9.57 DNA2 RBBP8
11 DNA repair GO:0006281 9.56 ATR ATRIP CINP DNA2 FANCA LIG4
12 DNA double-strand break processing GO:0000729 9.55 DNA2 RBBP8
13 centriole-centriole cohesion GO:0010457 9.54 CNTLN NIN
14 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.54 CEP152 CEP63 PLK4
15 centriole replication GO:0007099 9.46 CENPJ CEP152 CEP63 PLK4
16 cellular response to DNA damage stimulus GO:0006974 9.28 ATR ATRIP CEP63 CINP DNA2 FANCA
17 cell cycle GO:0007049 10.02 ATR CENPE CEP63 CINP LIG4 NSMCE2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 ATR ATRIP CENPE CENPJ CEP152 CEP63

Sources for Seckel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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