MCID: SCK004
MIFTS: 54

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 50 24 56 29 52 14 69
Microcephalic Primordial Dwarfism 12 24
Nanocephalic Dwarfism 50 24
Bird-Headed Dwarfism 12 50
Virchow-Seckel Dwarfism 12
Seckel-Type Dwarfism 50
Harper's Syndrome 12
Sckl 50

Characteristics:

Orphanet epidemiological data:

56
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 33 Q87.1
Orphanet 56 ORPHA808
MESH via Orphanet 43 C537533
UMLS via Orphanet 70 C0265202
ICD10 via Orphanet 34 Q87.1

Summaries for Seckel Syndrome

NIH Rare Diseases : 50 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 microcephalic primordial dwarfism, is related to microcephalic primordial dwarfism, toriello type and seckel syndrome 4, and has symptoms including short stature, scoliosis and sparse scalp hair. An important gene associated with Seckel Syndrome is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. 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 9 Seckel Syndrome 1
Seckel Syndrome 6 Seckel Syndrome 10
Seckel Syndrome 8 Seckel Syndrome 4
Seckel Syndrome 7 Seckel Syndrome 5
Seckel Syndrome 2

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 microcephalic primordial dwarfism, toriello type 12.3
2 seckel syndrome 4 12.1
3 seckel syndrome 5 12.1
4 seckel syndrome 2 12.1
5 seckel syndrome 8 12.1
6 seckel syndrome 1 12.1
7 seckel syndrome 7 12.1
8 seckel syndrome 6 12.1
9 seckel syndrome 10 12.0
10 seckel syndrome 9 12.0
11 primary autosomal recessive microcephalies and seckel syndrome spectrum disorders 11.9
12 microcephalic primordial dwarfism, montreal type 11.3
13 nijmegen breakage syndrome 10.8
14 microcephalic osteodysplastic primordial dwarfism, type ii 10.8
15 facial paresis, hereditary congenital, 2 10.6 ATRIP DNA2
16 aromatase deficiency 10.6 CENPJ CEP152
17 treacher collins syndrome 2 10.5 CENPJ PCNT
18 dwarfism familial with muscle spasms 10.4 NSMCE2 PCNT RNU4ATAC
19 prostate cancer susceptibility 10.4 CENPJ MCPH1
20 microcephalic osteodysplastic primordial dwarfism, type i 10.3 PCNT RNU4ATAC
21 ciliary dyskinesia, primary, 24 10.2 CENPJ CEP63 CNTLN PCNT
22 mental retardation, autosomal recessive 45 10.2 ATRIP DNA2 FANCA LIG4
23 dwarfism 10.2
24 angiodysplasia 10.1 CENPJ CEP63 MCPH1 RNU4ATAC
25 b cell prolymphocytic leukemia 10.1 CENPJ MCPH1
26 shwachman-diamond type metaphyseal dysplasia 10.1 CENPJ CEP63 MCPH1 RNU4ATAC
27 meier-gorlin syndrome 1 10.0 ATR ATRIP CEP152 CEP63 PCNT RNU4ATAC
28 semilobar holoprosencephaly 9.8
29 microcephaly 9.8
30 cleft lip 9.8
31 holoprosencephaly 9.8
32 growth hormone deficiency, isolated, type ii 9.7 CNTLN DNA2 PCNT RNU4ATAC RTTN TRAIP
33 malignant hypertension 9.7
34 intracranial aneurysm 9.7
35 ataxia-telangiectasia 9.7
36 dermatitis 9.7
37 atopic dermatitis 9.7
38 lig4 syndrome 9.7
39 cerebritis 9.7
40 retinitis 9.7
41 retinal detachment 9.7
42 intestinal obstruction 9.7
43 schizencephaly 9.7
44 tricuspid atresia 9.7
45 polyarteritis nodosa 9.7
46 aplastic anemia 9.7
47 craniosynostosis 9.7
48 ring chromosome 4 9.7
49 hepatitis 9.7
50 aneurysm 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:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 sparse scalp hair 56 32 frequent (33%) Frequent (79-30%) HP:0002209
4 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
5 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
9 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
10 narrow face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000275
11 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
12 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
13 craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001363
14 sandal gap 56 32 hallmark (90%) Very frequent (99-80%) HP:0001852
15 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
16 hip dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0001385
17 cachexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004326
18 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
19 mild global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011342
20 cone-shaped epiphysis 56 32 frequent (33%) Frequent (79-30%) HP:0010579
21 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
22 prematurely aged appearance 56 32 hallmark (90%) Very frequent (99-80%) HP:0007495
23 abnormality of dental enamel 56 32 frequent (33%) Frequent (79-30%) HP:0000682
24 reduced number of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0009804
25 absent earlobe 56 32 frequent (33%) Frequent (79-30%) HP:0000387
26 abnormality of earlobe 56 Frequent (79-30%)

UMLS symptoms related to Seckel Syndrome:


seizures

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 RBBP8 TRAIP ATR CENPE CENPJ CEP152
2 embryo MP:0005380 9.91 ATR CENPE CENPJ CEP152 FANCA PLK4
3 mortality/aging MP:0010768 9.77 ATR ATRIP CENPE CENPJ CINP DNA2
4 endocrine/exocrine gland MP:0005379 9.7 ATR CENPJ CEP63 FANCA LIG4 MCPH1
5 neoplasm MP:0002006 9.02 ATR DNA2 FANCA LIG4 RBBP8

Drugs & Therapeutics for Seckel Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Seckel Syndrome 29 24 RBBP8

Anatomical Context for Seckel Syndrome

MalaCards organs/tissues related to Seckel Syndrome:

39
Eye, Bone, Bone Marrow, Liver, T Cells, Myeloid

Publications for Seckel Syndrome

Articles related to Seckel Syndrome:

(show top 50) (show all 99)
id Title Authors Year
1
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. ( 28832566 )
2017
2
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. ( 27639833 )
2016
3
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
4
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
5
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. ( 26150138 )
2015
6
Mutations in CDK5RAP2 cause Seckel syndrome. ( 26436113 )
2015
7
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. ( 26755913 )
2015
8
Seckel Syndrome with Severe Sinus Bradycardia. ( 25186569 )
2014
9
Antenatal diagnosis of Seckel Syndrome: a rare case report. ( 26266004 )
2014
10
Seckel syndrome: a rare case report. ( 24739918 )
2014
11
Fecalith causing intestinal obstruction in a patient with seckel syndrome. ( 25057475 )
2014
12
Antenatal diagnosis of seckel syndrome. ( 25404793 )
2014
13
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. ( 24483323 )
2014
14
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
15
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. ( 24907886 )
2014
16
Bilateral retinal detachment in Seckel syndrome. ( 25284118 )
2014
17
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. ( 22027933 )
2013
18
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. ( 23401567 )
2013
19
Visual vignette. Seckel syndrome. ( 22592053 )
2012
20
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. ( 23166506 )
2012
21
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
22
Palatoplasty in a patient with Seckel syndrome. ( 23482443 )
2012
23
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ( 23144622 )
2012
24
An unusual presentation of Seckel syndrome: fatty liver. ( 23161319 )
2012
25
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. ( 22869956 )
2012
26
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. ( 21669506 )
2012
27
Seckel syndrome: a report of a case. ( 23263432 )
2012
28
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. ( 22308854 )
2011
29
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. ( 21395565 )
2011
30
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. ( 21131973 )
2011
31
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? ( 20393849 )
2010
32
A case of Seckel syndrome with Tetralogy of Fallot. ( 20420029 )
2010
33
Open and closed lip schizencephaly in Seckel syndrome: a case report. ( 19794099 )
2010
34
Dental manifestations associated with Seckel syndrome type II: a case report. ( 21070714 )
2010
35
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
36
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010
37
Seckel syndrome and moyamoya. ( 19338412 )
2009
38
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
39
Seckel syndrome with chromosomal 18 deletion. ( 20012807 )
2009
40
Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. ( 18984961 )
2008
41
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
42
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. ( 18157127 )
2008
43
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. ( 18503579 )
2008
44
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. ( 18616496 )
2008
45
Photo essay--Seckel syndrome. ( 17640052 )
2007
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
Seckel syndrome and spontaneously dislocated lenses. ( 17466870 )
2007
49
Seckel syndrome with Morgagni hernia. ( 17551341 )
2007
50
Anesthesia for Seckel syndrome. ( 16490111 )
2006

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 GeneCards Suite gene sharing:

(show all 12)
id 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 11.69 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:

id 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 9.32 CEP152 PLK4
8 centriole GO:0005814 9.17 CENPJ CEP152 CEP63 CNTLN NIN PCNT
9 nucleoplasm GO:0005654 10.11 ATR ATRIP CENPJ CEP152 CNTLN DNA2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.95 CENPE CENPJ CEP63 CINP LIG4 NSMCE2
2 G2/M transition of mitotic cell cycle GO:0000086 9.83 CENPJ CEP152 CEP63 PCNT PLK4
3 regulation of signal transduction by p53 class mediator GO:1901796 9.8 ATR ATRIP DNA2 RBBP8
4 ciliary basal body docking GO:0097711 9.77 CENPJ CEP152 CEP63 PCNT PLK4
5 DNA replication GO:0006260 9.73 ATR ATRIP CINP DNA2 LIG4 RBBP8
6 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.71 ATRIP DNA2 RBBP8
7 interstrand cross-link repair GO:0036297 9.69 ATR ATRIP FANCA
8 DNA damage checkpoint GO:0000077 9.65 ATR ATRIP CEP63
9 DNA repair GO:0006281 9.56 ATR ATRIP CINP DNA2 FANCA LIG4
10 strand displacement GO:0000732 9.55 DNA2 RBBP8
11 DNA double-strand break processing GO:0000729 9.52 DNA2 RBBP8
12 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.5 CEP152 CEP63 PLK4
13 centriole replication GO:0007099 9.46 CENPJ CEP152 CEP63 PLK4
14 cellular response to DNA damage stimulus GO:0006974 9.28 ATR ATRIP CEP63 CINP DNA2 FANCA
15 cell cycle GO:0007049 10 ATR CENPE CEP63 CINP LIG4 NSMCE2

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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