MCID: SCK004
MIFTS: 53

Seckel Syndrome malady

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

Aliases & Classifications for Seckel Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Seckel Syndrome:

Name: Seckel Syndrome 10 45 22 47 12 51 24 65
Microcephalic Primordial Dwarfism 10 22
Nanocephalic Dwarfism 45 22
Bird-Headed Dwarfism 10 45
 
Virchow-Seckel Dwarfism 10
Seckel-Type Dwarfism 45
Harper's Syndrome 10
Sckl 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
seckel syndrome:
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0050569
Orphanet51 808
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537533
UMLS via Orphanet66 C0265202

Summaries for Seckel Syndrome

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NIH Rare Diseases:45 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 microcephalic primordial dwarfism, is related to seckel syndrome 4 and seckel syndrome 8, and has symptoms including microcephaly, narrow face and micrognathia. 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 phenotypes are craniofacial and embryogenesis.

Disease Ontology:10 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome 431.2CENPJ, PCNT
2seckel syndrome 831.1ATRIP, DNA2
3microcephalic primordial dwarfism toriello type10.8
4microcephalic primordial dwarfism due to znf335 deficiency10.7
5microcephalic primordial dwarfism, montreal type10.6
6microcephalic primordial dwarfism, dauber type10.6
7microcephalic primordial dwarfism, alazami type10.6
8microcephalic primordial dwarfism-insulin resistance syndrome10.6
9seckel syndrome 110.6
10seckel syndrome 510.6
11seckel syndrome 210.6
12dwarfism10.6
13seckel syndrome 610.6
14seckel syndrome 710.5
15bird headed-dwarfism, montreal type10.5
16cataract10.4
17primary autosomal recessive microcephalies and seckel syndrome spectrum disorders10.4
18bangstad syndrome10.2
19seckel like syndrome majoor-krakauer type10.2
20holoprosencephaly10.2
21cleft lip10.2
22microcephaly10.2
23semilobar holoprosencephaly10.2
24pulmonary venoocclusive disease 210.1CASC5, CEP152
25microcephaly 6, primary, autosomal recessive10.1CENPJ, PCNT
26schizencephaly10.1
27aplastic anemia10.1
28tetralogy of fallot10.1
29ataxia-telangiectasia10.1
30lig4 syndrome10.1
31microcephalic osteodysplastic primordial dwarfism, type ii10.1
32craniosynostosis10.1
33hepatitis10.1
34polyarteritis nodosa10.1
35atopic dermatitis10.1
36cerebritis10.1
37dermatitis10.1
38intestinal obstruction10.1
39intracranial aneurysm10.1
40malignant hypertension10.1
41retinal detachment10.1
42retinitis10.1
43ring chromosome 410.1
44tricuspid atresia10.1
45aneurysm10.1
46ataxia10.1
47meier-gorlin syndrome 19.8ATR, ATRIP, CEP152, CEP63, PCNT, RNU4ATAC
48central corneal ulcer9.7CASC5, CDK5RAP2, CENPJ, CEP152, MCPH1, STIL
49axial mesodermal dysplasia spectrum9.7CASC5, CDK5RAP2, CENPJ, CEP152, CEP63, MCPH1
50prkg1-related thoracic aortic aneurysms and aortic dissections9.7CASC5, CDK5RAP2, CENPJ, CEP152, CEP63, 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:

 51 (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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 24 RBBP8

Anatomical Context for Seckel Syndrome

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MalaCards organs/tissues related to Seckel Syndrome:

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

Animal Models for Seckel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Seckel Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.4ATR, CDK5RAP2, CENPJ, FANCA, LIG4, MCPH1
2MP:00053809.1ATR, CENPE, FANCA, PCNT, PLK4, RBBP8
3MP:00020069.0ATR, CDK5RAP2, DNA2, FANCA, LIG4, RBBP8
4MP:00053848.1ATR, CDK5RAP2, CENPE, CENPJ, DNA2, FANCA
5MP:00107688.0ATR, CDK5RAP2, CENPE, CENPJ, DNA2, FANCA

Publications for Seckel Syndrome

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Articles related to Seckel Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. (26150138)
2015
2
Mutations in CDK5RAP2 cause Seckel syndrome. (26436113)
2015
3
A case of Seckel syndrome with tricuspid atresia. (25059015)
2014
4
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. (24907886)
2014
5
Fecalith causing intestinal obstruction in a patient with seckel syndrome. (25057475)
2014
6
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. (22027933)
2013
7
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. (23401567)
2013
8
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. (23166506)
2012
9
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. (23144622)
2012
10
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
11
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. (22353298)
2012
12
Visual vignette. Seckel syndrome. (22592053)
2012
13
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. (21669506)
2012
14
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (21131973)
2011
15
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
16
Novel CENPJ mutation causes Seckel syndrome. (20522431)
2010
17
Seckel syndrome and moyamoya. (19338412)
2009
18
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
19
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
20
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. (18616496)
2008
21
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. (18157127)
2008
22
Anesthesia in a child with Seckel syndrome. (17897289)
2007
23
Photo essay--Seckel syndrome. (17640052)
2007
24
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? (17032400)
2006
25
Dialysis access surgery with Seckel syndrome. (16879530)
2006
26
Seckel syndrome associated with atrioventricular canal defect: a case report. (15127771)
2004
27
A case of cleft lip and palate associated with Seckel syndrome. (14989682)
2004
28
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. (15279811)
2004
29
Seckel syndrome with polyarteritis nodosa. (15591669)
2004
30
Malignant hypertension and cerebral haemorrhage in Seckel syndrome. (14564517)
2003
31
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. (14598338)
2003
32
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. (12153610)
2002
33
Seckel syndrome: report of a case. (11990056)
2002
34
Dislocation of lenses in Seckel syndrome. (12148558)
2002
35
Seckel syndrome. (12522284)
2002
36
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. (11681999)
2001
37
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. (10232749)
1999
38
Multiple intracranial aneurysms in a patient with Seckel syndrome. (9548348)
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:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1RBBP8NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp)single nucleotide variantPathogenicrs373804633GRCh38Chr 18, 22968855: 22968855
2RBBP8NM_002894.2(RBBP8): c.604+1G> Tsingle nucleotide variantPathogenicrs587780432GRCh38Chr 18, 22982394: 22982394
3DNA2NM_001080449.2(DNA2): c.3114+6delCdeletionPathogenicrs587777614GRCh37Chr 10, 70176460: 70176460
4ATRNM_001184.3(ATR): c.3477G> T (p.Met1159Ile)single nucleotide variantPathogenicrs587777851GRCh38Chr 3, 142541008: 142541008
5ATRNM_001184.3(ATR): c.6897+464C> Gsingle nucleotide variantPathogenicrs587777852GRCh38Chr 3, 142465860: 142465860
6CENPENM_001813.2(CENPE): c.2797G> A (p.Asp933Asn)single nucleotide variantPathogenicrs144716013GRCh38Chr 4, 103158691: 103158691
7CENPENM_001813.2(CENPE): c.4063A> G (p.Lys1355Glu)single nucleotide variantPathogenicrs141488085GRCh38Chr 4, 103147427: 103147427
8PLK4NM_014264.4(PLK4): c.2811-5C> Gsingle nucleotide variantPathogenicrs724159995GRCh37Chr 4, 128819589: 128819589
9PLK4NM_014264.4(PLK4): c.1299_1303delTAAAG (p.Phe433Leufs)deletionPathogenicrs724159996GRCh37Chr 4, 128807824: 128807828
10CENPJCENPJ, IVS11, G-C, -1single nucleotide variantPathogenic
11ATRNM_001184.3(ATR): c.4641+1G> Tsingle nucleotide variantPathogenicrs797045403GRCh38Chr 3, 142513500: 142513500
12CENPJNM_018451.4(CENPJ): c.1263G> C (p.Gln421His)single nucleotide variantLikely pathogenicrs201088712GRCh37Chr 13, 25480913: 25480913
13CENPJNM_018451.4(CENPJ): c.1339A> T (p.Lys447Ter)single nucleotide variantPathogenicrs797045447GRCh37Chr 13, 25480837: 25480837
14CENPJNM_018451.4(CENPJ): c.1404_1407delTTCT (p.Ser469Argfs)deletionPathogenicrs777893196GRCh38Chr 13, 24906631: 24906634
15CENPJNM_018451.4(CENPJ): c.1850_1851delCT (p.Pro617Argfs)deletionPathogenicrs797045448GRCh38Chr 13, 24906187: 24906188
16CENPJNM_018451.4(CENPJ): c.1882delG (p.Ala628Glnfs)deletionPathogenicrs797045449GRCh37Chr 13, 25480294: 25480294
17CENPJNM_018451.4(CENPJ): c.1969C> T (p.Gln657Ter)single nucleotide variantPathogenicrs797045450GRCh37Chr 13, 25480207: 25480207
18CENPJNM_018451.4(CENPJ): c.3007dupA (p.Ile1003Asnfs)duplicationPathogenicrs797045452GRCh38Chr 13, 24892852: 24892852
19NM_018451.4(CENPJ): c.3495_3497dupGAA (p.Lys1165_Asn1166insLys)duplicationLikely pathogenicrs776528706GRCh37Chr 13, 25458582: 25458584
20CENPJNM_018451.4(CENPJ): c.897_898delAG (p.Glu300Thrfs)deletionPathogenicrs797045454GRCh37Chr 13, 25482232: 25482233
21RBBP8NM_002894.2(RBBP8): c.2287+53T> Gsingle nucleotide variantPathogenicrs587776883GRCh38Chr 18, 23001782: 23001782
22CEP152CEP152, IVS4DS, G-C, +1single nucleotide variantPathogenic
23CEP152CEP152, TYR678TERundetermined variantPathogenic
24CEP152CEP152, IVS19DS, G-T, +1single nucleotide variantPathogenic
25CEP152CEP152, 2-BP DEL, 4210GTdeletionPathogenic
26ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)single nucleotide variantPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
27ATRNM_001184.3(ATR): c.2022A> G (p.Gly674=)single nucleotide variantPathogenicrs587776690GRCh37Chr 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
1
Show member pathways
9.9ATR, FANCA, RBBP8
29.9ATR, FANCA, RBBP8
3
Show member pathways
9.9ATR, ATRIP, FANCA
4
Show member pathways
9.8ATR, ATRIP, DNA2, RBBP8
5
Show member pathways
9.6ATR, ATRIP, FANCA, LIG4
6
Show member pathways
9.3CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
7
Show member pathways
9.3CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
8
Show member pathways
9.3ATR, ATRIP, DNA2, FANCA, LIG4, RBBP8
98.9ATR, ATRIP, CENPE, FANCA, LIG4, MCPH1
10
Show member pathways
8.0ATR, ATRIP, CASC5, CDK5RAP2, CENPE, CENPJ

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
1deuterosomeGO:009853610.6CEP152, PLK4
2pericentriolar materialGO:000024210.6CDK5RAP2, PCNT
3XY bodyGO:000174110.4ATR, PLK4
4microtubule organizing centerGO:000581510.4CEP152, MCPH1, PCNT
5spindle poleGO:000092210.0CDK5RAP2, CEP63, NIN, WDR62
6centrioleGO:00058149.7CENPJ, CEP63, NIN, PCNT, PLK4, STIL
7microtubuleGO:00058749.4CDK5RAP2, CENPE, CENPJ, NIN, PCNT
8centrosomeGO:00058139.0CDK5RAP2, CENPJ, CEP152, CEP63, NIN, PCNT
9nucleoplasmGO:00056548.4ATR, ATRIP, CASC5, CEP152, DNA2, FANCA

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1protein localization to centrosomeGO:007153910.5MCPH1, STIL
2establishment of mitotic spindle orientationGO:000013210.5CDK5RAP2, MCPH1
3centrosome duplicationGO:005129810.4CEP152, STIL
4de novo centriole assemblyGO:009853510.3CEP152, CEP63, PLK4
5double-strand break repair via synthesis-dependent strand annealingGO:004500310.3DNA2, RBBP8
6mitotic spindle organizationGO:000705210.2STIL, WDR62
7DNA damage checkpointGO:000007710.2ATR, ATRIP, CEP63, RBBP8
8interstrand cross-link repairGO:003629710.2ATR, ATRIP, FANCA
9centriole replicationGO:000709910.2CENPJ, CEP152, CEP63, PLK4
10double-strand break repair via homologous recombinationGO:000072410.1ATR, ATRIP, DNA2, RBBP8
11double-strand break repairGO:00063029.8ATR, ATRIP, DNA2, LIG4, RBBP8
12G2/M transition of mitotic cell cycleGO:00000869.7CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
13organelle organizationGO:00069969.7CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
14DNA replicationGO:00062609.7ATR, ATRIP, DNA2
15DNA repairGO:00062819.3ATR, ATRIP, DNA2, FANCA, LIG4, RBBP8
16cell divisionGO:00513019.2CASC5, CENPE, CENPJ, CEP63, LIG4, RBBP8
17mitotic cell cycleGO:00002788.4CASC5, CDK5RAP2, CENPE, CENPJ, CEP152, CEP63

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.7ATR, ATRIP, CASC5, CDK5RAP2, CENPE, CENPJ

Sources for Seckel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet