MCID: SCK004
MIFTS: 52

Seckel Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Seckel Syndrome

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NIH Rare Diseases:41 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, and has symptoms including microcephaly, narrow face and micrognathia. An important gene associated with Seckel Syndrome is ATR (ataxia telangiectasia and Rad3 related), and among its related pathways are BARD1 signaling events and G2/M Checkpoints. Affiliated tissues include bone, eye and bone marrow, and related mouse phenotypes are tumorigenesis and craniofacial.

Disease Ontology:9 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

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

Aliases & Classifications for Seckel Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Seckel Syndrome, Aliases & Descriptions:

Name: Seckel Syndrome 9 41 20 11 43 47 22 60
Bird-Headed Dwarfism 9 41
Microcephalic Primordial Dwarfism 9
Virchow-Seckel Dwarfism 9
 
Nanocephalic Dwarfism 41
Seckel-Type Dwarfism 41
Harper's Syndrome 9
Sckl 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
seckel syndrome:
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0050569
Orphanet47 808
MESH via Orphanet34 C537533
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C0265202

Related Diseases for Seckel Syndrome

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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

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia-telangiectasia30.2ATR, MCPH1, LIG4
2microcephaly28.8CDK5RAP2, ATR, MCPH1, LIG4, ASPM, CENPJ
3microcephalic primordial dwarfism toriello type10.8
4microcephalic primordial dwarfism due to znf335 deficiency10.7
5bird headed dwarfism montreal type10.7
6microcephalic primordial dwarfism, dauber type10.6
7microcephalic primordial dwarfism, alazami type10.6
8seckel syndrome 110.6
9dwarfism10.6
10seckel syndrome 510.5
11seckel syndrome 210.5
12seckel syndrome 410.5
13seckel syndrome 610.5
14bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency10.5
15seckel syndrome 810.4
16seckel syndrome 710.4
17cataract10.4
18primary autosomal recessive microcephalies and seckel syndrome spectrum disorders10.4
19jawad syndrome10.3RBBP8
20seckel like syndrome majoor-krakauer type10.2
21holoprosencephaly10.2
22cleft lip10.2
23semilobar holoprosencephaly10.2
24nijmegen breakage syndrome10.1LIG4, ATR
25mental retardation10.1ASPM, MCPH1, ATR
26schizencephaly10.1
27tetralogy of fallot10.1
28lig4 syndrome10.1
29microcephalic osteodysplastic primordial dwarfism, type ii10.1
30aplastic anemia10.1
31craniosynostosis10.1
32hepatitis10.1
33polyarteritis nodosa10.1
34atopic dermatitis10.1
35cerebritis10.1
36dermatitis10.1
37intestinal obstruction10.1
38intracranial aneurysm10.1
39malignant hypertension10.1
40retinal detachment10.1
41retinitis10.1
42ring chromosome 410.1
43tricuspid atresia10.1
44aneurysm10.1
45ataxia10.1
46microcephaly, primary autosomal recessive9.8CDK5RAP2, CENPJ, ASPM, MCPH1

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



Diseases related to seckel syndrome

Symptoms for Seckel Syndrome

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Symptoms:

 47 (show all 24)
  • microcephaly
  • craniostenosis/craniosynostosis/sutural synostosis
  • narrow face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • beaked nose
  • small/hypoplastic/adherent/absent ear lobe
  • clinodactyly of fifth finger
  • wide space between 1st-2nd toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal/absent ossification
  • autosomal recessive inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • premature ageing
  • intrauterine growth retardation
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • glaucoma
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • cone epiphyses/epiphysis
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • scoliosis

HPO human phenotypes related to Seckel Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 narrow face hallmark (90%) HP:0000275
3 micrognathia hallmark (90%) HP:0000347
4 convex nasal ridge hallmark (90%) HP:0000444
5 craniosynostosis hallmark (90%) HP:0001363
6 intrauterine growth retardation hallmark (90%) HP:0001511
7 sandal gap hallmark (90%) HP:0001852
8 clinodactyly of the 5th finger hallmark (90%) HP:0004209
9 short stature hallmark (90%) HP:0004322
10 decreased body weight hallmark (90%) HP:0004325
11 abnormality of bone mineral density hallmark (90%) HP:0004348
12 prematurely aged appearance hallmark (90%) HP:0007495
13 aplasia/hypoplasia of the earlobes hallmark (90%) HP:0009906
14 cognitive impairment hallmark (90%) HP:0100543
15 downslanted palpebral fissures typical (50%) HP:0000494
16 glaucoma typical (50%) HP:0000501
17 abnormality of dental enamel typical (50%) HP:0000682
18 joint hypermobility typical (50%) HP:0001382
19 abnormality of the hip bone typical (50%) HP:0003272
20 reduced number of teeth typical (50%) HP:0009804
21 cone-shaped epiphysis typical (50%) HP:0010579
22 abnormal hair quantity typical (50%) HP:0011362
23 scoliosis occasional (7.5%) HP:0002650

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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6LIG4, DNA2, RBBP8, CDK5RAP2, ATR
2MP:00053828.4MCPH1, LIG4, ASPM, CENPJ, CDK5RAP2, ATR
3MP:00053898.3ASPM, CENPJ, LIG4, ATR, CDK5RAP2, MCPH1
4MP:00036317.2CDK5RAP2, ATR, LIG4, ASPM, CENPJ, STIL
5MP:00053847.1CDK5RAP2, RBBP8, PCNT, DNA2, STIL, CENPE
6MP:00107687.1CENPJ, ATR, MCPH1, LIG4, CDK5RAP2, CENPE
7MP:00053787.1ATR, PCNT, STIL, CENPJ, ASPM, LIG4

Publications for Seckel Syndrome

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Articles related to Seckel Syndrome:

(show top 50)    (show all 91)
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
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. (12153610)
2002
31
Seckel syndrome: report of a case. (11990056)
2002
32
Dislocation of lenses in Seckel syndrome. (12148558)
2002
33
Seckel syndrome. (12522284)
2002
34
Clinical and genetic heterogeneity of Seckel syndrome. (12376940)
2002
35
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. (11681999)
2001
36
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. (10232749)
1999
37
Multiple intracranial aneurysms in a patient with Seckel syndrome. (9548348)
1998
38
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. (9605595)
1998
39
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. (9286460)
1997
40
Acute myeloid leukaemia in a patient with Seckel syndrome. (8182723)
1994
41
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. (8358044)
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 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1RBBP8NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp)single nucleotide variantPathogenicGRCh38Chr 18, 22968855: 22968855
2RBBP8NM_002894.2(RBBP8): c.604+1G> Tsingle nucleotide variantPathogenicGRCh38Chr 18, 22982394: 22982394
3DNA2NM_001080449.2(DNA2): c.3114+6delCdeletionPathogenicGRCh37Chr 10, 70176460: 70176460
4CENPJCENPJ, IVS11, G-C, -1single nucleotide variantPathogenic
5RBBP8NM_002894.2(RBBP8): c.2287+53T> Gsingle nucleotide variantPathogenicGRCh38Chr 18, 23001782: 23001782
6CEP152CEP152, IVS4DS, G-C, +1single nucleotide variantPathogenic
7CEP152CEP152, TYR678TERundetermined variantPathogenic
8CEP152CEP152, IVS19DS, G-T, +1single nucleotide variantPathogenic
9CEP152CEP152, 2-BP DEL, 4210deletionPathogenic
10CEP152NM_001194998.1(CEP152): c.2000A> G (p.Lys667Arg)single nucleotide variantPathogenicrs200879436GRCh37Chr 15, 49060434: 49060434
11ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)single nucleotide variantPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
12ATRNM_001184.3(ATR): c.2022A> G (p.Gly674=)single nucleotide variantPathogenicGRCh37Chr 3, 142275281: 142275281

Expression for genes affiliated with Seckel Syndrome

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Search GEO for disease gene expression data for Seckel Syndrome.

Pathways for genes affiliated with Seckel Syndrome

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Pathways related to Seckel Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1RBBP8, ATR
2
Show member pathways
10.0ATR, ATRIP
310.0ATRIP, ATR
410.0ATRIP, ATR
5
Show member pathways
9.6ATR, ATRIP, LIG4
6
Show member pathways
9.5MCPH1, RBBP8, ATR, ATRIP
7
Show member pathways
9.4CASC5, DNA2, ATR
8
Show member pathways
8.5PCNT, CEP152, CEP63, CEP135, CENPJ, CDK5RAP2
9
Show member pathways
6.6ATR, ATRIP, MCPH1, CENPJ, CEP135, CENPE

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:00058149.1CENPJ, CEP135, CEP63, PCNT, NIN
2microtubuleGO:00058749.0CENPJ, CENPE, PCNT, CDK5RAP2, NIN
3spindle poleGO:00009228.8ASPM, CEP63, WDR62, CDK5RAP2
4nucleoplasmGO:00056548.3ATR, ATRIP, MCPH1, LIG4, DNA2, CASC5
5nucleolusGO:00057308.0ATRIP, LIG4, CEP152, WDR62, CASC5, RBBP8
6centrosomeGO:00058137.6NIN, CENPJ, CEP135, CEP63, CEP152, STIL
7cytoplasmGO:00057377.1LIG4, ASPM, CENPE, WDR62, PCNT, CASC5
8nucleusGO:00056347.0ATRIP, LIG4, ASPM, CENPE, CEP152, DNA2
9cytosolGO:00058296.9CENPJ, CEP135, CENPE, CEP63, CEP152, STIL

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1DNA catabolic process, endonucleolyticGO:000073710.0RBBP8, DNA2
2DNA damage checkpointGO:00000779.9ATR, ATRIP, CEP63
3DNA replicationGO:00062609.9ATR, ATRIP, DNA2
4microtubule cytoskeleton organizationGO:00002269.7CDK5RAP2, PCNT
5DNA repairGO:00062819.6ATR, ATRIP, LIG4, RBBP8
6neurogenesisGO:00220089.6CDK5RAP2, WDR62
7centriole replicationGO:00070999.6CENPJ, CEP135, CEP63, CEP152
8negative regulation of neuron differentiationGO:00456659.1CDK5RAP2, ASPM
9mitosisGO:00070679.0RBBP8, CASC5, CEP63, ASPM
10in utero embryonic developmentGO:00017018.9LIG4, STIL, PCNT
11G2/M transition of mitotic cell cycleGO:00000868.7CDK5RAP2, PCNT, CEP152, CEP63, CEP135, CENPJ
12mitotic cell cycleGO:00002787.3CDK5RAP2, MCPH1, CENPJ, CEP135, CENPE, CEP63

Molecular functions related to Seckel Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.5CDK5RAP2, CEP152, CENPJ
2tubulin bindingGO:00156319.4CDK5RAP2, CENPJ
3calmodulin bindingGO:00055169.0ASPM, PCNT, CDK5RAP2
4protein bindingGO:00055154.8NIN, ATR, ATRIP, MCPH1, LIG4, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet