MCID: SCK004
MIFTS: 53

Seckel Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Seckel Syndrome

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Seckel Syndrome:

Name: Seckel Syndrome 11 46 23 13 52 25 48 66
Microcephalic Primordial Dwarfism 11 23
Nanocephalic Dwarfism 46 23
Bird-Headed Dwarfism 11 46
 
Virchow-Seckel Dwarfism 11
Seckel-Type Dwarfism 46
Harper's Syndrome 11
Sckl 46

Characteristics:

Orphanet epidemiological data:

52
seckel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0050569
ICD1028 Q87.1
Orphanet52 ORPHA808
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C537533
UMLS via Orphanet67 C0265202

Summaries for Seckel Syndrome

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NIH Rare Diseases:46 Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. about less than 25% of the patients also have blood abnormalities. seckel syndrome is inherited in an autosomal recessive fashion. the condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation ). treatment is supportive. last updated: 11/9/2015

MalaCards based summary: Seckel Syndrome, also known as microcephalic primordial dwarfism, is related to seckel syndrome 4 and microcephalic primordial dwarfism, toriello type, and has symptoms including microcephaly, narrow face and micrognathia. An important gene associated with Seckel Syndrome is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways are p53 signaling pathway and Cell Cycle Checkpoints. Affiliated tissues include eye, bone and bone marrow, and related mouse phenotypes are neoplasm and embryo.

Disease Ontology:11 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

Wikipedia:69 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

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 Seckel Syndrome 9

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome 433.5CENPJ, PCNT
2microcephalic primordial dwarfism, toriello type12.4
3seckel syndrome 112.1
4seckel syndrome 512.1
5seckel syndrome 212.1
6seckel syndrome 612.1
7seckel syndrome 812.1
8seckel syndrome 712.1
9seckel syndrome 912.0
10primary autosomal recessive microcephalies and seckel syndrome spectrum disorders12.0
11microcephalic primordial dwarfism, montreal type11.5
12treacher collins syndrome 210.5CENPJ, PCNT
13facial paresis, hereditary congenital, 210.4ATRIP, DNA2
14dwarfism10.3
15prkg1-related thoracic aortic aneurysms and aortic dissections10.2CDK5RAP2, CEP152, MCPH1
16holoprosencephaly9.9
17microcephaly9.9
18cleft lip9.9
19semilobar holoprosencephaly9.9
20microcephalic osteodysplastic primordial dwarfism, type ii9.9
21schizencephaly9.8
22aplastic anemia9.8
23tetralogy of fallot9.8
24ataxia-telangiectasia9.8
25lig4 syndrome9.8
26tricuspid atresia9.8
27craniosynostosis9.8
28hepatitis9.8
29malignant hypertension9.8
30intracranial aneurysm9.8
31dermatitis9.8
32atopic dermatitis9.8
33cerebritis9.8
34retinitis9.8
35retinal detachment9.8
36intestinal obstruction9.8
37polyarteritis nodosa9.8
38ring chromosome 49.8
39aneurysm9.8
40ataxia9.8
41spastic paraplegia 329.5CDK5RAP2, CDK6, CENPJ, CEP152, CEP63, MCPH1
42benign essential hypertension9.4CDK5RAP2, CDK6, CENPJ, CEP152, CEP63, MCPH1
43meier-gorlin syndrome 19.4ATR, ATRIP, CEP152, CEP63, PCNT, RNU4ATAC
44gastric antral vascular ectasia9.1CDK5RAP2, CENPJ, CEP63, MCPH1, RNU4ATAC, WDR62
45mckusick type metaphyseal dysplasia9.1CDK5RAP2, CENPJ, CEP63, MCPH1, RNU4ATAC, WDR62
46primary familial brain calcification8.9ATR, ATRIP, CDK5RAP2, CDK6, CENPJ, CEP152
47hereditary lymphedema5.6ATR, ATRIP, CDK5RAP2, CDK6, CENPE, CENPJ

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:

 52 (show all 26)
  • microcephaly
  • narrow face
  • micrognathia
  • abnormality of earlobe
  • absent earlobe
  • convex nasal ridge
  • downslanted palpebral fissures
  • glaucoma
  • abnormality of dental enamel
  • intellectual disability
  • craniosynostosis
  • hip dysplasia
  • intrauterine growth retardation
  • sandal gap
  • sparse scalp hair
  • scoliosis
  • delayed skeletal maturation
  • clinodactyly of the 5th finger
  • short stature
  • cachexia
  • joint hyperflexibility
  • prematurely aged appearance
  • reduced number of teeth
  • cone-shaped epiphysis
  • mild global developmental delay
  • cognitive impairment

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

UMLS symptoms related to Seckel Syndrome:


seizures

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 Syndrome25 23 RBBP8

Anatomical Context for Seckel Syndrome

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MalaCards organs/tissues related to Seckel Syndrome:

34
Eye, Bone, 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.3ATR, CDK5RAP2, CDK6, DNA2, LIG4, RBBP8
2MP:00053809.0ATR, CDK6, CENPE, CENPJ, CEP152, PLK4
3MP:00053848.3ATR, CDK5RAP2, CDK6, CENPE, CENPJ, CEP152
4MP:00107687.8ATR, ATRIP, CDK5RAP2, CDK6, CENPE, CENPJ

Publications for Seckel Syndrome

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Articles related to Seckel Syndrome:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes, but is not required for normal development, behavior, or DNA damage response in Drosophila. (27053665)
2016
2
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. (26755913)
2015
3
A case of Seckel syndrome with tricuspid atresia. (25059015)
2014
4
Antenatal diagnosis of Seckel Syndrome: a rare case report. (26266004)
2014
5
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. (24483323)
2014
6
Bilateral retinal detachment in Seckel syndrome. (25284118)
2014
7
Seckel syndrome: a rare case report. (24739918)
2014
8
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
9
Palatoplasty in a patient with Seckel syndrome. (23482443)
2012
10
Seckel syndrome: a report of a case. (23263432)
2012
11
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. (23166506)
2012
12
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome. (22308854)
2011
13
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome. (21395565)
2011
14
Novel CENPJ mutation causes Seckel syndrome. (20522431)
2010
15
Open and closed lip schizencephaly in Seckel syndrome: a case report. (19794099)
2010
16
Dental manifestations associated with Seckel syndrome type II: a case report. (21070714)
2010
17
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. (19372093)
2010
18
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
19
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
20
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. (18616496)
2008
21
Photo essay--Seckel syndrome. (17640052)
2007
22
Seckel syndrome and spontaneously dislocated lenses. (17466870)
2007
23
Seckel syndrome with Morgagni hernia. (17551341)
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
Chromosomal instability at common fragile sites in Seckel syndrome. (15309689)
2004
31
Malignant hypertension and cerebral haemorrhage in Seckel syndrome. (14564517)
2003
32
T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. (12745283)
2003
33
Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature. (12744374)
2003
34
Dislocation of lenses in Seckel syndrome. (12148558)
2002
35
Seckel syndrome. (12522284)
2002
36
Clinical and genetic heterogeneity of Seckel syndrome. (12376940)
2002
37
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. (12153610)
2002
38
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. (11681999)
2001
39
Ocular manifestations of Seckel syndrome. (11589896)
2001
40
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. (10232749)
1999
41
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. (9286460)
1997
42
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. (9332654)
1997
43
Seckel syndrome in a Yemeni family in Saudi Arabia. (8074149)
1994
44
Aplastic anemia associated with &quot;bird-headed&quot; dwarfism (Seckel syndrome). (8511046)
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
Seckel syndrome: an overdiagnosed syndrome. (4040172)
1985
48
Constitutional hypoplastic anemia associated with familial &quot;bird-headed&quot; dwarfism (Seckel syndrome). (6465473)
1984
49
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism). (6682547)
1983
50
Seckel syndrome: bird-headed dwarfism. (998220)
1976

Variations for Seckel Syndrome

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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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8ATR, ATRIP, CDK6
2
Show member pathways
9.8ATR, ATRIP, DNA2, RBBP8
3
Show member pathways
9.8ATR, ATRIP, DNA2, RBBP8
4
Show member pathways
9.7ATR, ATRIP, CENPJ, DNA2, RBBP8
5
Show member pathways
9.4CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
6
Show member pathways
9.4CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
78.9ATR, ATRIP, CDK6, CENPE, LIG4, MCPH1
8
Show member pathways
8.0ATR, ATRIP, CDK5RAP2, CDK6, 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
1mitotic spindle poleGO:009743110.6CDK5RAP2, NIN
2deuterosomeGO:009853610.5CEP152, PLK4
3pericentriolar materialGO:000024210.4CDK5RAP2, CEP152, NIN
4chromosomeGO:000569410.4ATR, CENPE, RBBP8
5nuclear chromosome, telomeric regionGO:000078410.2ATR, DNA2, LIG4
6spindle poleGO:00009229.9CDK5RAP2, CEP63, NIN, WDR62
7microtubuleGO:00058749.6CDK5RAP2, CENPE, CENPJ, NIN, PCNT
8centrioleGO:00058149.2CENPJ, CEP152, CEP63, CNTLN, NIN, PCNT
9centrosomeGO:00058138.7CDK5RAP2, CDK6, CENPJ, CEP152, CEP63, NIN

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1centrosome duplicationGO:005129810.7CENPJ, CEP152
2DNA damage checkpointGO:000007710.4ATR, ATRIP, CEP63
3strand displacementGO:000073210.3DNA2, RBBP8
4DNA double-strand break processingGO:000072910.2DNA2, RBBP8
5de novo centriole assemblyGO:009853510.1CEP152, CEP63, PLK4
6DNA repairGO:00062819.9ATR, CINP, LIG4, RBBP8
7regulation of signal transduction by p53 class mediatorGO:19017969.8ATR, ATRIP, DNA2, RBBP8
8DNA replicationGO:00062609.5ATR, ATRIP, CINP, DNA2, RBBP8
9centriole replicationGO:00070999.4CDK5RAP2, CENPJ, CEP152, CEP63, PLK4, WDR62
10G2/M transition of mitotic cell cycleGO:00000869.1CDK5RAP2, CENPJ, CEP152, CEP63, PCNT, PLK4
11cell divisionGO:00513018.9CDK6, CENPE, CENPJ, CEP63, CINP, LIG4

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.8ATR, ATRIP, CDK5RAP2, CDK6, CENPE, CENPJ

Sources for Seckel Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet