SCKL
MCID: SCK004
MIFTS: 43

Seckel Syndrome (SCKL) malady

Summaries for Seckel Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 seckel syndrome type 4 and ataxia telangiectasia. An important gene associated with Seckel Syndrome is RBBP8 (retinoblastoma binding protein 8), and among its related pathways are DNA damage DNA-damage-induced responses and E2F mediated regulation of DNA replication. Related mouse phenotypes are endocrine/exocrine gland and tumorigenesis.

Wikipedia:64 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Description from OMIM:47 210600,613676

Aliases & Classifications for Seckel Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM
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Aliases & Descriptions:

seckel syndrome 8 43 20 22 10 45 61
bird-headed dwarfism 8 43
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 61
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

Sources:
17GeneCards, 18GeneDecks
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Diseases in the seckel syndrome type 1 family:

seckel syndrome seckel syndrome type 4
seckel syndrome type 5 seckel syndrome type 2
seckel syndrome type 6 seckel syndrome type 8
seckel syndrome 3 seckel syndrome 7

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome type 430.6CENPJ
2ataxia telangiectasia30.0MCPH1, H2AFX, LIG4, ATR
3microcephaly30.0CEP152, ATR, LIG4, PCNT, MCPH1, ASPM
4fanconi's anemia30.0H2AFX, LIG4, FANCA
5harp syndrome10.8
6microcephalic primordial dwarfism toriello type10.8
7retinitis pigmentosa10.6
8acanthocytosis10.6
9bird headed dwarfism montreal type10.6
10dwarfism10.5
11meier-gorlin syndrome10.5
12microcephaly 10, primary, autosomal recessive10.5
13n syndrome10.4
14seckel syndrome type 110.4
15seckel syndrome type 510.4
16seckel syndrome type 210.4
17micro syndrome10.4
18bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency10.4
19alazami syndrome10.3
20seckel syndrome type 610.3
21seckel syndrome 310.3
22seckel like syndrome majoor-krakauer type10.2
23holoprosencephaly10.2
24primary autosomal recessive microcephalies and seckel syndrome spectrum disorders10.2
25seckel syndrome type 810.2
26seckel syndrome 710.2
27semilobar holoprosencephaly10.2
28atopic dermatitis10.0
29intracranial aneurysm10.0
30polyarteritis nodosa10.0
31fanconi syndrome10.0
32cleft palate10.0
33aplastic anemia10.0
343-m syndrome10.0
35char syndrome10.0
36schizencephaly10.0
37microcephalic osteodysplastic primordial dwarfism type 210.0
38primary autosomal recessive microcephaly and microcephalic dwarfism multi-gene panels10.0
39ataxia10.0
40microcephaly, primary autosomal recessive10.0CENPJ, ASPM, MCPH1
41mental retardation10.0ATR, MCPH1, ASPM
42bloom syndrome10.0H2AFX
43primary autosomal recessive microcephaly type 110.0CENPJ, ASPM, MCPH1
44leukemia10.0H2AFX, LIG4
45nijmegen breakage syndrome10.0MDC1, ATR, LIG4, H2AFX
46breast cancer10.0LIG4, ATR, RBBP8, MDC1, H2AFX, FANCA

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



Diseases related to seckel syndrome

Clinical Features for Seckel Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

210600,613676

Drugs & Therapeutics for Seckel Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Seckel Syndrome

Drug clinical trials:

Search ClinicalTrials for Seckel Syndrome

Search NIH Clinical Center for Seckel Syndrome

Search CenterWatch for Seckel Syndrome

Genetic Tests for Seckel Syndrome

Sources:
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

Animal Models for Seckel Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Seckel Syndrome

Sources:
51PubMed
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Articles related to Seckel Syndrome:

(show top 50)    (show all 88)
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
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
5
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. (22353298)
2012
6
Visual vignette. Seckel syndrome. (22592053)
2012
7
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. (21669506)
2012
8
Palatoplasty in a patient with Seckel syndrome. (23482443)
2012
9
Seckel syndrome: a report of a case. (23263432)
2012
10
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (21131973)
2011
11
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. (22308854)
2011
12
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. (21395565)
2011
13
Open and closed lip schizencephaly in Seckel syndrome: a case report. (19794099)
2010
14
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? (20393849)
2010
15
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. (19372093)
2010
16
Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. (18984961)
2008
17
Seckel syndrome and spontaneously dislocated lenses. (17466870)
2007
18
Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. (17300651)
2007
19
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? (17032400)
2006
20
Neonatal hepatitis in 2 siblings with Seckel syndrome. (16808631)
2006
21
Anesthesia for cleft lip surgery in a child with Seckel syndrome--a case report. (15787928)
2005
22
Seckel syndrome associated with atrioventricular canal defect: a case report. (15127771)
2004
23
A case of cleft lip and palate associated with Seckel syndrome. (14989682)
2004
24
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. (15279811)
2004
25
Chromosomal instability at common fragile sites in Seckel syndrome. (15309689)
2004
26
Malignant hypertension and cerebral haemorrhage in Seckel syndrome. (14564517)
2003
27
T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. (12745283)
2003
28
Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature. (12744374)
2003
29
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. (12153610)
2002
30
Dislocation of lenses in Seckel syndrome. (12148558)
2002
31
Seckel syndrome. (12522284)
2002
32
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. (11781686)
2001
33
Ocular manifestations of Seckel syndrome. (11589896)
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
Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism). (10454788)
1999
37
Multiple intracranial aneurysms in a patient with Seckel syndrome. (9548348)
1998
38
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. (9286460)
1997
39
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. (9332654)
1997
40
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. (9128935)
1997
41
A new Seckel-like syndrome of primordial dwarfism. (8862620)
1996
42
Acute myeloid leukaemia in a patient with Seckel syndrome. (8182723)
1994
43
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. (8358044)
1993
44
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders (20301772)
1993
45
Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus. (1296517)
1992
46
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? (3115102)
1987
47
Orofacial manifestations of the Seckel syndrome. (3470330)
1987
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

Genetic Variations for Seckel Syndrome

Expression for genes affiliated with Seckel Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Seckel Syndrome

Search GEO for disease gene expression data for Seckel Syndrome.

Pathways for genes affiliated with Seckel Syndrome

Sources:
12EMD Millipore, 54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology
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Pathways related to Seckel Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2ATR, MDC1
2
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10.2CDT1, CDC45
3
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10.1CEP152, CENPJ, PCNT
4
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10.1ATR, RBBP8, FANCA
510.1ATR, RBBP8, FANCA
6
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10.1MDC1, H2AFX
7
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10.1FANCA, ATR, LIG4
8
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10.1RBBP8, ATR, H2AFX
9
DNA damage Role of Brca1 and Brca2 in DNA repair
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10.0MDC1, H2AFX, ATR
10
Hide members
10.0H2AFX, MDC1, LIG4
11
Hide members
9.9H2AFX, CDT1, CDC45, ATR
12
Hide members
9.7H2AFX, LIG4, ATR, MDC1, FANCA
13
Hide members
9.7ATR, CDC45, CDT1, MCPH1, H2AFX, RBBP8
14
Hide members
9.4ATR, CDC45, CDT1, PCNT, H2AFX, CENPL

Compounds for genes affiliated with Seckel Syndrome

GO Terms for genes affiliated with Seckel Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1XY bodyGO:00174110.2ATR, H2AFX
2centrioleGO:0058149.8PCNT, CENPJ, NIN
3centrosomeGO:0058139.8CEP152, CENPJ, PCNT, CDC45, NIN
4nucleoplasmGO:0056549.4FANCA, MDC1, ATR, LIG4, CDC45, CDT1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:00007610.3CDC45, CDT1
2G2/M transition of mitotic cell cycleGO:00008610.2CEP152, PCNT, CENPJ
3DNA damage checkpointGO:00007710.2ATR, H2AFX
4double-strand break repair via homologous recombinationGO:00072410.2RBBP8, H2AFX, MDC1
5regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00008310.2CDT1, CDC45
6double-strand break repairGO:00630210.1H2AFX, LIG4, MDC1
7DNA replicationGO:00626010.0ATR, CDC45, CDT1
8mitotic cell cycleGO:0002789.9CENPL, PCNT, CENPJ, CEP152, CDT1, CDC45
9DNA repairGO:0062819.9H2AFX, LIG4, ATR, RBBP8, MDC1, FANCA
10G1/S transition of mitotic cell cycleGO:0000829.8CDC45, CDT1, RBBP8

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.8CEP152, NIN, MDC1, RBBP8, ATR, LIG4

Products for genes affiliated with Seckel Syndrome

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Sources for Seckel Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet