SCKL
MCID: SCK004
MIFTS: 54

Seckel Syndrome (SCKL) malady

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

Aliases & Classifications for Seckel Syndrome

Aliases & Descriptions 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 syndrome is 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 1, and has symptoms including cachexia, intellectual disability and scoliosis. An important gene associated with Seckel Syndrome is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Regulation of TP53 Activity. Affiliated tissues include eye, bone and bone marrow, and related phenotypes are cellular and growth/size/body region

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

Wikipedia : 71 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 6
Seckel Syndrome 8 Seckel Syndrome 4
Seckel Syndrome 7 Seckel Syndrome 5
Seckel Syndrome 2 Seckel Syndrome 9

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

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 microcephalic primordial dwarfism, toriello type 12.3
2 seckel syndrome 1 12.2
3 seckel syndrome 4 12.2
4 seckel syndrome 5 12.2
5 seckel syndrome 2 12.2
6 seckel syndrome 8 12.1
7 seckel syndrome 6 12.1
8 seckel syndrome 7 12.1
9 seckel syndrome 9 12.1
10 primary autosomal recessive microcephalies and seckel syndrome spectrum disorders 11.9
11 microcephalic primordial dwarfism, montreal type 11.3
12 microcephalic osteodysplastic primordial dwarfism, type ii 10.8
13 hypotrichosis 12 10.2 CENPJ PCNT
14 dandy-walker syndrome 10.2 ATR NIN PCNT
15 aromatase excess syndrome 10.2 CENPJ CEP152
16 ciliary dyskinesia, primary, 24 10.2 CDK5RAP2 CENPJ PCNT
17 kowarski syndrome 10.2 DNA2 PCNT TRAIP
18 dwarfism 10.2
19 epilepsy, hot water, 1 10.1 ATRIP DNA2
20 parkinson disease 10 10.1 ATR ATRIP CEP152 CEP63 PCNT
21 pycr1-related cutis laxa 10.1 ASPM CDK5RAP2 CENPJ CEP152 MCPH1
22 fibrous dysplasia 10.0 ASPM CDK5RAP2 CENPJ CEP63 MCPH1 WDR62
23 angiodysplasia 9.9 ASPM CDK5RAP2 CENPJ CEP63 MCPH1 STIL
24 cleft lip 9.8
25 holoprosencephaly 9.8
26 semilobar holoprosencephaly 9.8
27 microcephaly 9.8
28 amnestic disorder 9.8 ASPM CDK5RAP2 CENPJ CEP152 MCPH1 PHC1
29 tricuspid atresia 9.7
30 polyarteritis nodosa 9.7
31 schizencephaly 9.7
32 craniosynostosis 9.7
33 ring chromosome 4 9.7
34 aplastic anemia 9.7
35 hepatitis 9.7
36 aneurysm 9.7
37 ataxia 9.7
38 malignant hypertension 9.7
39 tetralogy of fallot 9.7
40 intracranial aneurysm 9.7
41 ataxia-telangiectasia 9.7
42 dermatitis 9.7
43 atopic dermatitis 9.7
44 lig4 syndrome 9.7
45 cerebritis 9.7
46 retinitis 9.7
47 retinal detachment 9.7
48 intestinal obstruction 9.7
49 banti's syndrome 9.6 ASPM CDK5RAP2 CDK6 CENPJ CEP152 CEP63
50 rrm2b-related mitochondrial disease 9.4 ASPM ATR ATRIP CDK5RAP2 CDK6 CENPJ

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

UMLS symptoms related to Seckel Syndrome:


seizures

MGI Mouse Phenotypes related to Seckel Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 DNA2 LIG4 MCPH1 PLK4 RBBP8 STIL
2 growth/size/body region MP:0005378 10.13 TRAIP WDR62 ASPM ATR CDK5RAP2 CDK6
3 embryo MP:0005380 10.1 ATR CDK6 CENPE CENPJ CEP152 PHC1
4 mortality/aging MP:0010768 10.1 ATR ATRIP CDK5RAP2 CDK6 CENPE CENPJ
5 endocrine/exocrine gland MP:0005379 10.07 ASPM ATR CDK6 CENPJ CEP63 LIG4
6 nervous system MP:0003631 9.73 CEP63 LIG4 MCPH1 NIN PLK4 STIL
7 neoplasm MP:0002006 9.63 ATR CDK5RAP2 CDK6 DNA2 LIG4 RBBP8
8 reproductive system MP:0005389 9.32 ASPM ATR CDK5RAP2 CDK6 CENPJ CEP63

Drugs & Therapeutics for Seckel Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
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, T Cells, Myeloid, Liver

Publications for Seckel Syndrome

Articles related to Seckel Syndrome:

(show top 50) (show all 98)
id Title Authors Year
1
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
2
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
3
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. ( 27639833 )
2016
4
Mutations in CDK5RAP2 cause Seckel syndrome. ( 26436113 )
2015
5
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. ( 26150138 )
2015
6
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. ( 26755913 )
2015
7
Fecalith causing intestinal obstruction in a patient with seckel syndrome. ( 25057475 )
2014
8
Bilateral retinal detachment in Seckel syndrome. ( 25284118 )
2014
9
Antenatal diagnosis of seckel syndrome. ( 25404793 )
2014
10
Seckel Syndrome with Severe Sinus Bradycardia. ( 25186569 )
2014
11
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
12
Seckel syndrome: a rare case report. ( 24739918 )
2014
13
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. ( 24483323 )
2014
14
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. ( 24907886 )
2014
15
Antenatal diagnosis of Seckel Syndrome: a rare case report. ( 26266004 )
2014
16
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. ( 23401567 )
2013
17
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. ( 22027933 )
2013
18
An unusual presentation of Seckel syndrome: fatty liver. ( 23161319 )
2012
19
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. ( 23166506 )
2012
20
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. ( 21669506 )
2012
21
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. ( 22869956 )
2012
22
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. ( 23144622 )
2012
23
Seckel syndrome: a report of a case. ( 23263432 )
2012
24
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
25
Palatoplasty in a patient with Seckel syndrome. ( 23482443 )
2012
26
Visual vignette. Seckel syndrome. ( 22592053 )
2012
27
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. ( 21131973 )
2011
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
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010
31
Open and closed lip schizencephaly in Seckel syndrome: a case report. ( 19794099 )
2010
32
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
33
A case of Seckel syndrome with Tetralogy of Fallot. ( 20420029 )
2010
34
Dental manifestations associated with Seckel syndrome type II: a case report. ( 21070714 )
2010
35
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? ( 20393849 )
2010
36
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
37
Seckel syndrome and moyamoya. ( 19338412 )
2009
38
Seckel syndrome with chromosomal 18 deletion. ( 20012807 )
2009
39
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. ( 18503579 )
2008
40
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. ( 18157127 )
2008
41
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. ( 18616496 )
2008
42
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
43
Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. ( 18984961 )
2008
44
Photo essay--Seckel syndrome. ( 17640052 )
2007
45
Seckel syndrome with Morgagni hernia. ( 17551341 )
2007
46
Seckel syndrome and spontaneously dislocated lenses. ( 17466870 )
2007
47
Anesthesia in a child with Seckel syndrome. ( 17897289 )
2007
48
Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. ( 17300651 )
2007
49
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? ( 17032400 )
2006
50
Dialysis access surgery with Seckel syndrome. ( 16879530 )
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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 CDK5RAP2 CENPJ CEP152 CEP63 PCNT PLK4
2
Show member pathways
12.62 ATR ATRIP CENPJ DNA2 RBBP8
3
Show member pathways
12.6 ATR ATRIP CDK5RAP2 CDK6 CENPE CENPJ
4
Show member pathways
12.36 CDK5RAP2 CENPJ CEP152 CEP63 PCNT PLK4
5 12.02 ATR ATRIP CDK6 CENPE LIG4 MCPH1
6
Show member pathways
11.92 ATR ATRIP DNA2 RBBP8
7 11.1 ATR CEP63 RBBP8

GO Terms for Seckel Syndrome

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 ASPM CDK5RAP2 CDK6 CENPE CENPJ CEP152
2 microtubule organizing center GO:0005815 9.91 CDK5RAP2 CDK6 CENPJ CEP152 CEP63 MCPH1
3 microtubule GO:0005874 9.8 ASPM CDK5RAP2 CENPE CENPJ NIN PCNT
4 spindle pole GO:0000922 9.73 CDK5RAP2 CEP63 NIN WDR62
5 nuclear chromosome, telomeric region GO:0000784 9.7 ATR DNA2 LIG4
6 centrosome GO:0005813 9.65 CDK5RAP2 CDK6 CENPJ CEP152 CEP63 NIN
7 pericentriolar material GO:0000242 9.58 CDK5RAP2 CEP152 NIN
8 mitotic spindle pole GO:0097431 9.54 ASPM CDK5RAP2 NIN
9 microtubule minus-end GO:0036449 9.48 ASPM NIN
10 deuterosome GO:0098536 9.46 CEP152 PLK4
11 centriole GO:0005814 9.23 CENPJ CEP152 CEP63 NIN PCNT PLK4
12 cytoplasm GO:0005737 10.37 ASPM CDK5RAP2 CDK6 CENPE CENPJ CEP152
13 nucleoplasm GO:0005654 10.21 ATR ATRIP CDK6 CENPJ CEP152 DNA2

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.98 ASPM ATR CDK6 CENPE CEP63 LIG4
2 cellular response to DNA damage stimulus GO:0006974 9.93 ATR ATRIP CEP63 DNA2 LIG4 RBBP8
3 DNA repair GO:0006281 9.92 ATR ATRIP DNA2 LIG4 RBBP8
4 mitotic nuclear division GO:0007067 9.87 ASPM CENPE CEP63 RBBP8
5 cell division GO:0051301 9.87 ASPM CDK6 CENPE CENPJ CEP63 LIG4
6 regulation of signal transduction by p53 class mediator GO:1901796 9.81 ATR ATRIP DNA2 RBBP8
7 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.77 ATRIP DNA2 RBBP8
8 DNA replication GO:0006260 9.77 ATR ATRIP DNA2 LIG4 RBBP8
9 cerebral cortex development GO:0021987 9.72 ASPM MCPH1 WDR62
10 mitotic spindle organization GO:0007052 9.67 PCNT STIL WDR62
11 DNA damage checkpoint GO:0000077 9.65 ATR ATRIP CEP63
12 G2/M transition of mitotic cell cycle GO:0000086 9.63 CDK5RAP2 CENPJ CEP152 CEP63 PCNT PLK4
13 strand displacement GO:0000732 9.6 DNA2 RBBP8
14 neuronal stem cell population maintenance GO:0097150 9.58 ASPM MCPH1
15 protein localization to centrosome GO:0071539 9.58 MCPH1 STIL
16 centrosome duplication GO:0051298 9.58 CENPJ CEP152 STIL
17 DNA double-strand break processing GO:0000729 9.56 DNA2 RBBP8
18 regulation of centriole replication GO:0046599 9.54 CENPJ STIL
19 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.43 CEP152 CEP63 PLK4
20 ciliary basal body docking GO:0097711 9.43 CDK5RAP2 CENPJ CEP152 CEP63 PCNT PLK4
21 centriole replication GO:0007099 9.1 CDK5RAP2 CENPJ CEP152 CEP63 PLK4 WDR62

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 9.58 ATR ATRIP CDK5RAP2 CDK6 CENPE CENPJ
2 nucleotide binding GO:0000166 9.35 ATR CDK6 DNA2 LIG4 PLK4

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
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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