SCKL
MCID: SCK004
MIFTS: 47

Seckel Syndrome (SCKL) malady

Summaries for Seckel Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 microcephaly. 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. Affiliated tissues include bone, eye and bone marrow, and related mouse phenotypes are endocrine/exocrine gland and tumorigenesis.

Wikipedia:63 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Description from OMIM:46 210600,613676

Aliases & Classifications for Seckel Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM
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Aliases & Descriptions:

seckel syndrome 8 42 20 22 10 44 60
bird-headed dwarfism 8 42
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 60
microcephalic primordial dwarfism 8
virchow-seckel dwarfism 8
nanocephalic dwarfism 42
seckel-type dwarfism 42
harper's syndrome 8
sckl 42


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 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 50)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome type 430.6CENPJ
2microcephaly30.2ATR, LIG4, PCNT, MCPH1, ASPM, CENPJ
3ataxia telangiectasia30.0H2AFX, MCPH1, LIG4, ATR
4microcephalic primordial dwarfism toriello type10.7
5retinitis pigmentosa10.6
6retinal degeneration10.6
7retinitis10.6
8harp syndrome10.6
9bird headed dwarfism montreal type10.6
10dwarfism10.5
11microcephaly 10, primary, autosomal recessive10.5
12seckel syndrome type 110.4
13seckel syndrome type 510.4
14seckel syndrome type 210.4
15bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency10.3
16cataract10.3
17sexual disorder10.3
18alazami syndrome10.3
19seckel syndrome type 610.3
20primary autosomal recessive microcephalies and seckel syndrome spectrum disorders10.2
21seckel syndrome 310.2
22seckel like syndrome majoor-krakauer type10.2
23cleft lip10.2
24holoprosencephaly10.2
25hypertension10.2
26seckel syndrome type 810.2
27seckel syndrome 710.2
28atopic dermatitis10.0
29cerebritis10.0
30intracranial aneurysm10.0
31polyarteritis nodosa10.0
32fanconi syndrome10.0
33cleft palate10.0
34tetralogy of fallot10.0
35aplastic anemia10.0
36craniosynostosis10.0
37dermatitis10.0
38glaucoma10.0
39hepatitis10.0
40malignant hypertension10.0
41microcephalic osteodysplastic primordial dwarfism type 210.0
42primary autosomal recessive microcephaly and microcephalic dwarfism multi-gene panels10.0
43microcephaly, primary autosomal recessive10.0MCPH1, ASPM, CENPJ
44mental retardation10.0ATR, MCPH1, ASPM
45bloom syndrome10.0H2AFX
46primary autosomal recessive microcephaly type 110.0MCPH1, ASPM, CENPJ
47leukemia10.0H2AFX, LIG4
48nijmegen breakage syndrome10.0MDC1, ATR, LIG4, H2AFX
49fanconi's anemia10.0H2AFX, LIG4, FANCA
50breast cancer10.0FANCA, MDC1, RBBP8, ATR, LIG4, H2AFX

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



Diseases related to seckel syndrome

Clinical Features for Seckel Syndrome

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46OMIM
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Clinical features from OMIM:

210600,613676

Drugs & Therapeutics for Seckel Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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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32MalaCards
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MalaCards organs/tissues related to Seckel Syndrome:

32
Bone, Eye, Bone marrow, Liver, Myeloid, T cells

Animal Models for Seckel Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Seckel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.0H2AFX, ASPM, CENPJ
2MP:00020069.8RBBP8, ATR, LIG4, H2AFX, FANCA
3MP:00053829.7CENPJ, FANCA, ATR, LIG4, DSPP, MCPH1
4MP:00053899.4FANCA, MDC1, ATR, LIG4, MCPH1, H2AFX
5MP:00053849.2FANCA, MDC1, RBBP8, ATR, LIG4, CDC45
6MP:00053789.2FANCA, MDC1, ATR, LIG4, PCNT, MCPH1
7MP:00107688.8FANCA, MDC1, RBBP8, ATR, LIG4, CDC45

Publications for Seckel Syndrome

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50PubMed
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Articles related to Seckel Syndrome:

(show top 50)    (show all 87)
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
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
4
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. (22353298)
2012
5
Visual vignette. Seckel syndrome. (22592053)
2012
6
Palatoplasty in a patient with Seckel syndrome. (23482443)
2012
7
CtIP mutations cause Seckel and Jawad syndromes. (21998596)
2011
8
Novel CENPJ mutation causes Seckel syndrome. (20522431)
2010
9
Open and closed lip schizencephaly in Seckel syndrome: a case report. (19794099)
2010
10
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. (19372093)
2010
11
Seckel syndrome and moyamoya. (19338412)
2009
12
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
13
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
14
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. (18503579)
2008
15
Photo essay--Seckel syndrome. (17640052)
2007
16
Seckel syndrome and spontaneously dislocated lenses. (17466870)
2007
17
Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. (17300651)
2007
18
Seckel syndrome with Morgagni hernia. (17551341)
2007
19
Dialysis access surgery with Seckel syndrome. (16879530)
2006
20
Neonatal hepatitis in 2 siblings with Seckel syndrome. (16808631)
2006
21
Anesthesia for Seckel syndrome. (16490111)
2006
22
Anesthesia for cleft lip surgery in a child with Seckel syndrome--a case report. (15787928)
2005
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
Chromosomal instability at common fragile sites in Seckel syndrome. (15309689)
2004
26
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. (15496423)
2004
27
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. (14598338)
2003
28
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. (12640452)
2003
29
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. (12153610)
2002
30
Seckel syndrome: report of a case. (11990056)
2002
31
Dislocation of lenses in Seckel syndrome. (12148558)
2002
32
Seckel syndrome. (12522284)
2002
33
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. (11781686)
2001
34
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. (10232749)
1999
35
Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism). (10454788)
1999
36
Multiple intracranial aneurysms in a patient with Seckel syndrome. (9548348)
1998
37
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. (9286460)
1997
38
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. (9332654)
1997
39
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. (9128935)
1997
40
A new Seckel-like syndrome of primordial dwarfism. (8862620)
1996
41
Esthetic overdenture for a patient with possible Seckel syndrome. (9582723)
1996
42
Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability. (7794560)
1995
43
Acute myeloid leukaemia in a patient with Seckel syndrome. (8182723)
1994
44
Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus. (1296517)
1992
45
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? (3115102)
1987
46
Orofacial manifestations of the Seckel syndrome. (3470330)
1987
47
Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. (3300331)
1987
48
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism). (6682547)
1983
49
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. (7046443)
1982
50
Seckel syndrome: bird-headed dwarfism. (998220)
1976

Genetic Variations for Seckel Syndrome

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Expression for genes affiliated with Seckel Syndrome

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1BioGPS, 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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12EMD Millipore, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 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
110.2MDC1, ATR
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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10.1H2AFX, MDC1
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, ATR, H2AFX
10
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10.0H2AFX, LIG4, MDC1
11
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9.9H2AFX, CDT1, CDC45, ATR
12
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9.7FANCA, MDC1, ATR, LIG4, H2AFX
13
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9.7RBBP8, ATR, CDC45, CDT1, MCPH1, H2AFX
14
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9.4CEP152, ATR, CDC45, CDT1, PCNT, H2AFX

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

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet