SCKL
MCID: SCK004
MIFTS: 47

Seckel Syndrome (SCKL) malady

Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Seckel Syndrome

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Seckel syndrome is a genetic disorder characterized by growth retardation, microcephaly with mental retardation, and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. blood abnormalities with chromosome breakage may be present in less than 25% of individuals who have seckel syndrome. the signs and symptoms of seckel syndrome may be similar to those of another condition called microcephalic osteodysplastic primordial dwarfism type ii (mopd ii); however, mopd ii is associated with abnormalities of the bones, which can be identified by performing x-rays during the first years of life.seckel syndrome is inherited in an autosomal recessive fashion. the condition may be called seckel syndrome type 1 when it is caused by a mutation in the sckl1 gene, seckel syndrome type 2 when caused by a mutation in the sckl2 gene, and seckel syndrome type 3 when caused by a mutation in the sckl3 gene. last updated: 3/10/2010

MalaCards: Seckel Syndrome, also known as bird-headed dwarfism, is related to ataxia telangiectasia and microcephaly. An important gene associated with Seckel Syndrome is RBBP8 (retinoblastoma binding protein 8), and among its related pathways are BRCA1 Pathway and BARD1 signaling events. Affiliated tissues include bone, eye and bone marrow, and related mouse phenotype cellular.

Wikipedia:65 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Description from OMIM:47 613676,210600

Aliases & Classifications for Seckel Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM
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Classifications:



Aliases & Descriptions:

seckel syndrome 8 43 20 22 10 45 62
bird-headed dwarfism 8 43
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 62
microcephalic primordial dwarfism 8
virchow-seckel dwarfism 8
nanocephalic dwarfism 43
seckel-type dwarfism 43
harper's syndrome 8
sckl 43


External Ids:

Disease Ontology8 DOID:0050569

Related Diseases for Seckel Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Seckel Syndrome Type 8 family:

seckel syndrome Seckel Syndrome Type 1
Seckel Syndrome Type 4 Seckel Syndrome Type 5
Seckel Syndrome Type 2 Seckel Syndrome Type 6
Seckel Syndrome 3 Seckel Syndrome 7

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia telangiectasia30.2ATR
2microcephaly30.1PCNT, CEP152, CENPJ, ATR
3microcephalic primordial dwarfism toriello type10.8
4bird headed dwarfism montreal type10.6
5dwarfism10.5
6meier-gorlin syndrome10.5
7microcephaly 10, primary, autosomal recessive10.5
8seckel syndrome type 110.4
9seckel syndrome type 410.4
10seckel syndrome type 510.4
11seckel syndrome type 210.4
12seckel syndrome type 810.4
13bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency10.4
14cataract10.3
15alazami syndrome10.3
16seckel syndrome type 610.3
17primary autosomal recessive microcephalies and seckel syndrome spectrum disorders10.3
18seckel syndrome 310.3
19seckel like syndrome majoor-krakauer type10.2
20cleft lip10.2
21holoprosencephaly10.2
22hypertension10.2
23seckel syndrome 710.2
24semilobar holoprosencephaly10.2
25intracranial aneurysm10.0
26polyarteritis nodosa10.0
27tetralogy of fallot10.0
28atopic dermatitis10.0
29cerebritis10.0
30aplastic anemia10.0
31craniosynostosis10.0
32dermatitis10.0
33glaucoma10.0
34hepatitis10.0
35malignant hypertension10.0
36microcephalic osteodysplastic primordial dwarfism type 210.0
37ring chromosome 410.0
38schizencephaly10.0
39primary autosomal recessive microcephaly and microcephalic dwarfism multi-gene panels10.0
40aneurysm10.0
41ataxia10.0
42jawad syndrome10.0RBBP8

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



Diseases related to seckel syndrome

Symptoms for Seckel Syndrome

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47OMIM
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Clinical features from OMIM:

613676,210600

Drugs & Therapeutics for Seckel Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Seckel Syndrome

Search NIH Clinical Center for Seckel Syndrome

Genetic Tests for Seckel Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Seckel Syndrome:

id Genetic test Affiliating Genes
1 Seckel Syndrome20 22 RBBP8

Anatomical Context for Seckel Syndrome

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33MalaCards
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MalaCards organs/tissues related to Seckel Syndrome:

33
Bone, Eye, Bone marrow, Liver, Myeloid, T cells

Animal Models for Seckel Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Seckel Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5RBBP8, PCNT, CENPJ, ATR

Publications for Seckel Syndrome

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52PubMed
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Articles related to Seckel Syndrome:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. (22027933)
2013
2
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. (23401567)
2013
3
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. (23166506)
2012
4
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. (23144622)
2012
5
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
6
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. (22353298)
2012
7
Visual vignette. Seckel syndrome. (22592053)
2012
8
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. (21669506)
2012
9
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (21131973)
2011
10
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
11
Novel CENPJ mutation causes Seckel syndrome. (20522431)
2010
12
Seckel syndrome and moyamoya. (19338412)
2009
13
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
14
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
15
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. (18616496)
2008
16
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. (18157127)
2008
17
Anesthesia in a child with Seckel syndrome. (17897289)
2007
18
Photo essay--Seckel syndrome. (17640052)
2007
19
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? (17032400)
2006
20
Dialysis access surgery with Seckel syndrome. (16879530)
2006
21
Seckel syndrome associated with atrioventricular canal defect: a case report. (15127771)
2004
22
A case of cleft lip and palate associated with Seckel syndrome. (14989682)
2004
23
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. (15279811)
2004
24
Seckel syndrome with polyarteritis nodosa. (15591669)
2004
25
Malignant hypertension and cerebral haemorrhage in Seckel syndrome. (14564517)
2003
26
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. (14598338)
2003
27
T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. (12745283)
2003
28
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. (12153610)
2002
29
Seckel syndrome: report of a case. (11990056)
2002
30
Dislocation of lenses in Seckel syndrome. (12148558)
2002
31
Seckel syndrome. (12522284)
2002
32
Clinical and genetic heterogeneity of Seckel syndrome. (12376940)
2002
33
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. (11681999)
2001
34
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. (10889046)
2000
35
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. (10232749)
1999
36
Multiple intracranial aneurysms in a patient with Seckel syndrome. (9548348)
1998
37
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. (9605595)
1998
38
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. (9286460)
1997
39
Acute myeloid leukaemia in a patient with Seckel syndrome. (8182723)
1994
40
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. (8358044)
1993
41
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders (20301772)
1993
42
Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus. (1296517)
1992
43
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? (3115102)
1987
44
Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation. (3687392)
1987
45
Orofacial manifestations of the Seckel syndrome. (3470330)
1987
46
Seckel syndrome: an overdiagnosed syndrome. (4040172)
1985
47
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism). (6682547)
1983
48
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. (7046443)
1982
49
Seckel syndrome: bird-headed dwarfism. (998220)
1976
50
Letter: Seckel syndrome. (4858230)
1974

Variations for Seckel Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Seckel Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)single nucleotide variantPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
2PANK2NM_024960.4(PANK2): c.688G> A (p.Gly230Arg)single nucleotide variantPathogenicrs137852959GRCh37Chr 20, 3899342: 3899342
3PANK2NM_024960.4(PANK2): c.710C> T (p.Thr237Met)single nucleotide variantPathogenicrs137852967GRCh37Chr 20, 3899364: 3899364
4PANK2NM_024960.4(PANK2): c.568C> T (p.Arg190Ter)single nucleotide variantPathogenicrs137852968GRCh37Chr 20, 3897602: 3897602
5PANK2NM_024960.4(PANK2): c.437T> C (p.Met146Thr)single nucleotide variantPathogenicrs28939088GRCh37Chr 20, 3893179: 3893179

Expression for genes affiliated with Seckel Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Seckel Syndrome

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Pathways for genes affiliated with Seckel Syndrome

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50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 55Reactome, 30KEGG, 60Thomson Reuters, 5Cell Signaling Technology
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Compounds for genes affiliated with Seckel Syndrome

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GO Terms for genes affiliated with Seckel Syndrome

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16Gene Ontology
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Cellular components related to Seckel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:0058749.4PCNT, CENPJ
2centrioleGO:0058149.1PCNT, CENPJ
3centrosomeGO:0058138.5PCNT, CEP152, CENPJ

Biological processes related to Seckel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA replicationGO:0062609.4ATRIP, ATR
2DNA damage checkpointGO:0000779.3ATRIP, ATR
3centriole replicationGO:0070999.1CENPJ, CEP152
4DNA repairGO:0062819.0ATR, ATRIP, RBBP8
5G2/M transition of mitotic cell cycleGO:0000868.7PCNT, CEP152, CENPJ
6mitotic cell cycleGO:0002788.3CEP152, PCNT, CENPJ

Molecular functions related to Seckel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:0199019.0CEP152, CENPJ
2protein bindingGO:0055156.8RBBP8, PCNT, CEP152, CENPJ, ATRIP, ATR

Products for genes affiliated with Seckel Syndrome

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Sources for Seckel Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet