MCID: SCK004
MIFTS: 52

Seckel Syndrome malady

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

Aliases & Classifications for Seckel Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards 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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050569
ICD1027 Q87.1
Orphanet51 808
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537533
UMLS via Orphanet66 C0265202
UMLS65 C0265202

Summaries for Seckel Syndrome

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NIH Rare Diseases:45 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 (Retinoblastoma Binding Protein 8), and among its related pathways are Homologous DNA Pairing and Strand Exchange and Regulation of TP53 Activity. Affiliated tissues include eye, bone and thyroid, and related mouse phenotypes are tumorigenesis and embryo.

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

Wikipedia:68 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

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome 433.6CENPJ, PCNT
2microcephalic primordial dwarfism toriello type12.4
3bird headed-dwarfism, montreal type12.4
4microcephalic primordial dwarfism due to znf335 deficiency12.3
5microcephalic primordial dwarfism, montreal type12.3
6microcephalic primordial dwarfism, dauber type12.3
7microcephalic primordial dwarfism, alazami type12.3
8microcephalic primordial dwarfism-insulin resistance syndrome12.3
9seckel syndrome 112.1
10seckel syndrome 512.1
11seckel syndrome 212.1
12seckel syndrome 612.1
13seckel syndrome 812.1
14seckel syndrome 712.1
15primary autosomal recessive microcephalies and seckel syndrome spectrum disorders12.0
16treacher collins syndrome 210.5CENPJ, PCNT
17facial paresis, hereditary congenital, 210.5ATRIP, DNA2
18pulmonary venoocclusive disease 210.3CASC5, CEP152
19dwarfism10.3
20meier-gorlin syndrome 110.2ATR, ATRIP, CEP152, CEP63, PCNT
21dysbaric osteonecrosis10.1CDK5RAP2, CENPJ, CEP63, MCPH1
22sensory peripheral neuropathy10.0CDK5RAP2, CENPJ, CEP63, MCPH1, STIL
23holoprosencephaly9.9
24microcephaly9.9
25cleft lip9.9
26semilobar holoprosencephaly9.9
27microcephalic osteodysplastic primordial dwarfism, type ii9.9
28schizencephaly9.8
29aplastic anemia9.8
30tetralogy of fallot9.8
31ataxia-telangiectasia9.8
32lig4 syndrome9.8
33craniosynostosis9.8
34hepatitis9.8
35malignant hypertension9.8
36intracranial aneurysm9.8
37dermatitis9.8
38atopic dermatitis9.8
39cerebritis9.8
40retinitis9.8
41retinal detachment9.8
42intestinal obstruction9.8
43polyarteritis nodosa9.8
44ring chromosome 49.8
45tricuspid atresia9.8
46aneurysm9.8
47ataxia9.8
48tooth disease9.3CASC5, CDK5RAP2, CENPJ, CEP135, CEP152, MCPH1
49prkg1-related thoracic aortic aneurysms and aortic dissections9.1CASC5, CDK5RAP2, CDK6, CENPJ, CEP135, CEP152
50axial mesodermal dysplasia spectrum8.9CASC5, CDK5RAP2, CDK6, CENPJ, CEP135, CEP152

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

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 Syndrome22 RBBP8

Anatomical Context for Seckel Syndrome

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MalaCards organs/tissues related to Seckel Syndrome:

33
Eye, Bone, Thyroid, Lung, Endothelial, T cells, Skin

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:00020069.5ATR, CDK5RAP2, CDK6, DNA2, LIG4, RBBP8
2MP:00053808.7ATR, CDK6, CENPE, CENPJ, CEP152, PHC1
3MP:00053847.8ATR, CDK5RAP2, CDK6, CENPE, CENPJ, CEP152
4MP:00107687.3ATR, ATRIP, CASC5, CDK5RAP2, CDK6, CENPE

Publications for Seckel Syndrome

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Articles related to Seckel Syndrome:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. (26150138)
2015
2
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. (26755913)
2015
3
Mutations in CDK5RAP2 cause Seckel syndrome. (26436113)
2015
4
A case of Seckel syndrome with tricuspid atresia. (25059015)
2014
5
Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. (24907886)
2014
6
Fecalith causing intestinal obstruction in a patient with seckel syndrome. (25057475)
2014
7
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. (22027933)
2013
8
Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts. (23401567)
2013
9
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. (23166506)
2012
10
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. (23144622)
2012
11
Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. (22869956)
2012
12
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. (22353298)
2012
13
Visual vignette. Seckel syndrome. (22592053)
2012
14
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. (21669506)
2012
15
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (21131973)
2011
16
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
17
Novel CENPJ mutation causes Seckel syndrome. (20522431)
2010
18
Seckel syndrome and moyamoya. (19338412)
2009
19
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
20
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
21
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. (18616496)
2008
22
Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. (18157127)
2008
23
Anesthesia in a child with Seckel syndrome. (17897289)
2007
24
Photo essay--Seckel syndrome. (17640052)
2007
25
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? (17032400)
2006
26
Dialysis access surgery with Seckel syndrome. (16879530)
2006
27
Seckel syndrome associated with atrioventricular canal defect: a case report. (15127771)
2004
28
A case of cleft lip and palate associated with Seckel syndrome. (14989682)
2004
29
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. (15279811)
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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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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GO Terms for genes affiliated with Seckel Syndrome

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA double-strand break processingGO:000072910.6DNA2, RBBP8
2DNA synthesis involved in DNA repairGO:000073110.5DNA2, RBBP8
3double-strand break repair via synthesis-dependent strand annealingGO:004500310.5DNA2, RBBP8
4protein localization to centrosomeGO:007153910.5MCPH1, STIL
5centriole replicationGO:000709910.5CDK5RAP2, CENPJ, CEP152
6regulation of signal transduction by p53 class mediatorGO:190179610.4ATR, ATRIP, DNA2
7de novo centriole assemblyGO:009853510.4CEP63, PLK4
8interstrand cross-link repairGO:003629710.3ATR, ATRIP
9DNA damage checkpointGO:000007710.3ATR, ATRIP, CEP63
10double-strand break repair via homologous recombinationGO:000072410.2ATR, ATRIP, DNA2, RBBP8
11mitotic nuclear divisionGO:00070679.9CASC5, CEP63, RBBP8
12DNA replicationGO:00062609.3ATR, ATRIP, DNA2, LIG4, RBBP8
13mitotic cell cycleGO:00002789.2CDK5RAP2, CENPE, CEP135, CEP152, CEP63, DNA2
14cell divisionGO:00513019.0CASC5, CDK6, CENPE, CENPJ, CEP63, LIG4

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