SCKL
MCID: SCK004
MIFTS: 50

Seckel Syndrome (SCKL) malady

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

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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 based summary: Seckel Syndrome, also known as bird-headed dwarfism, is related to ataxia telangiectasia and microcephaly. An important gene associated with Seckel Syndrome is PANK2 (pantothenate kinase 2), and among its related pathways are BARD1 signaling events and Meiosis. Affiliated tissues include bone, eye and bone marrow, and related mouse phenotype cellular.

Disease Ontology:8 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

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

Descriptions from OMIM:46 614728, 615807, 210600, 613676, 608664 606744, 614851, 613823 more

Aliases & Classifications for Seckel Syndrome

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Seckel Syndrome, Aliases & Descriptions:

Name: Seckel Syndrome 8 42 20 22 10 44 62
Bird-Headed Dwarfism 8 42 62
Microcephalic Primordial Dwarfism 8 62
Nanocephalic Dwarfism 42 62
Seckel-Type Dwarfism 42 62
 
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 62
Virchow-Seckel Dwarfism 8
Harper's Syndrome 8
Sckl 42


Classifications:



External Ids:

Disease Ontology8 DOID:0050569

Related Diseases for Seckel Syndrome

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Diseases in the Seckel Syndrome Type 5 family:

seckel syndrome Seckel Syndrome Type 1
Seckel Syndrome Type 4 Seckel Syndrome Type 2
Seckel Syndrome Type 6 Seckel Syndrome Type 8
Seckel Syndrome 7

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia telangiectasia30.6ATR
2microcephaly29.9ATR, CENPJ, CEP152, PCNT
3microcephalic primordial dwarfism toriello type10.8
4bird headed dwarfism montreal type10.7
5dwarfism10.6
6seckel syndrome type 510.5
7meier-gorlin syndrome10.5
8microcephaly 10, primary, autosomal recessive10.5
9seckel syndrome type 110.5
10seckel syndrome type 210.5
11seckel syndrome type 410.4
12seckel syndrome type 610.4
13seckel syndrome type 810.4
14bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency10.4
15cataract10.4
16alazami syndrome10.4
17primary autosomal recessive microcephalies and seckel syndrome spectrum disorders10.3
18seckel syndrome 710.3
19seckel like syndrome majoor-krakauer type10.2
20holoprosencephaly10.2
21hypertension10.2
22cleft lip10.2
23semilobar holoprosencephaly10.2
24jawad syndrome10.2RBBP8
25aplastic anemia10.1
26craniosynostosis10.1
27hepatitis10.1
28tetralogy of fallot10.1
29polyarteritis nodosa10.1
30intracranial aneurysm10.1
31atopic dermatitis10.1
32cerebritis10.1
33dermatitis10.1
34intestinal obstruction10.1
35malignant hypertension10.1
36retinal detachment10.1
37retinitis10.1
38microcephalic osteodysplastic primordial dwarfism type 210.1
39ring chromosome 410.1
40schizencephaly10.1
41tricuspid atresia10.1
42aneurysm10.1
43ataxia10.1

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



Diseases related to seckel syndrome

Symptoms for Seckel Syndrome

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Clinical features from OMIM:

614728,615807,210600,613676,608664,606744,614851,613823

Drugs & Therapeutics for Seckel Syndrome

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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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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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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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MGI Mouse Phenotypes related to Seckel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.6RBBP8, PCNT, CENPJ, PANK2, ATR

Publications for Seckel Syndrome

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Articles related to Seckel Syndrome:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
A case of Seckel syndrome with tricuspid atresia. (25059015)
2014
2
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. (24907886)
2014
3
Fecalith causing intestinal obstruction in a patient with seckel syndrome. (25057475)
2014
4
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. (22027933)
2013
5
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. (23401567)
2013
6
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. (23166506)
2012
7
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. (23144622)
2012
8
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
9
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. (22353298)
2012
10
Visual vignette. Seckel syndrome. (22592053)
2012
11
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. (21669506)
2012
12
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (21131973)
2011
13
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
14
Novel CENPJ mutation causes Seckel syndrome. (20522431)
2010
15
Seckel syndrome and moyamoya. (19338412)
2009
16
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
17
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
18
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. (18616496)
2008
19
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. (18157127)
2008
20
Anesthesia in a child with Seckel syndrome. (17897289)
2007
21
Photo essay--Seckel syndrome. (17640052)
2007
22
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? (17032400)
2006
23
Dialysis access surgery with Seckel syndrome. (16879530)
2006
24
Seckel syndrome associated with atrioventricular canal defect: a case report. (15127771)
2004
25
A case of cleft lip and palate associated with Seckel syndrome. (14989682)
2004
26
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. (15279811)
2004
27
Seckel syndrome with polyarteritis nodosa. (15591669)
2004
28
Malignant hypertension and cerebral haemorrhage in Seckel syndrome. (14564517)
2003
29
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. (14598338)
2003
30
Seckel syndrome: report of a case. (11990056)
2002
31
Dislocation of lenses in Seckel syndrome. (12148558)
2002
32
Seckel syndrome. (12522284)
2002
33
Clinical and genetic heterogeneity of Seckel syndrome. (12376940)
2002
34
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. (11681999)
2001
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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Clinvar genetic disease variations for Seckel Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1PANK2NM_024960.4(PANK2): c.568C> T (p.Arg190Ter)single nucleotide variantPathogenicrs137852968GRCh37Chr 20, 3897602: 3897602
2PANK2NM_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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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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Compounds for genes affiliated with Seckel Syndrome

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GO Terms for genes affiliated with Seckel Syndrome

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Cellular components related to Seckel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:0058749.0CENPJ, PCNT, NIN
2nucleolusGO:0057308.5NIN, RBBP8, CEP152, ATRIP
3centrioleGO:0058148.4NIN, PCNT, CEP63, CENPJ
4centrosomeGO:0058137.8CENPJ, CEP63, CEP152, PCNT, NIN
5cytosolGO:0058297.7PANK2, CENPJ, CEP63, CEP152, PCNT

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

idNameGO IDScoreTop Affiliating Genes
1DNA replicationGO:0062609.4ATRIP, ATR
2DNA repairGO:0062818.8ATR, ATRIP, RBBP8
3centriole replicationGO:0070998.8CEP152, CEP63, CENPJ
4DNA damage checkpointGO:0000778.6ATR, ATRIP, CEP63
5G2/M transition of mitotic cell cycleGO:0000868.4PCNT, CEP152, CEP63, CENPJ
6mitotic cell cycleGO:0002788.2PCNT, CEP152, CEP63, CENPJ

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.4NIN, RBBP8, PCNT, CEP152, CEP63, CENPJ

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet