MCID: SCK009
MIFTS: 46

Seckel Syndrome 1 malady

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

Aliases & Classifications for Seckel Syndrome 1

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Seckel Syndrome 1:

Name: Seckel Syndrome 1 52 70 12
Seckel Syndrome 11 48 24 54 27 50 13 68
Nanocephalic Dwarfism 48 24 70
Bird-Headed Dwarfism 11 48 70
Microcephalic Primordial Dwarfism 11 24
Seckel Syndrome Type 1 24 27
 
Seckel-Type Dwarfism 48 70
Sckl1 24 70
Microcephalic Primordial Dwarfism I 70
Virchow-Seckel Dwarfism 11
Harper's Syndrome 11
Sckl 48

Characteristics:

Orphanet epidemiological data:

54
seckel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

HPO:

64
seckel syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 210600
Disease Ontology11 DOID:0050569
ICD1030 Q87.1
Orphanet54 ORPHA808
MESH via Orphanet40 C537533
UMLS via Orphanet69 C0265202
ICD10 via Orphanet31 Q87.1
MedGen37 C0265202

Summaries for Seckel Syndrome 1

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OMIM:52 Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism,... (210600) more...

MalaCards based summary: Seckel Syndrome 1, also known as seckel syndrome, 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 1 is ATR (ATR Serine/Threonine Kinase), and among its related pathways are BARD1 signaling events and Chks in Checkpoint Regulation. Affiliated tissues include bone and eye, and related mouse phenotypes are Decreased viability and Synthetic lethal with MLN4924 (a NAE inhibitor).

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

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 Seckel syndrome 1: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

Wikipedia:71 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Related Diseases for Seckel Syndrome 1

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Diseases in the Seckel Syndrome 1 family:

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome 433.9CENPJ, PCNT
2microcephalic primordial dwarfism, toriello type12.3
3seckel syndrome 512.2
4seckel syndrome 212.2
5seckel syndrome 812.2
6seckel syndrome 612.1
7seckel syndrome 712.1
8seckel syndrome 912.1
9primary autosomal recessive microcephalies and seckel syndrome spectrum disorders11.9
10microcephalic primordial dwarfism, montreal type11.3
11microcephalic osteodysplastic primordial dwarfism, type ii10.8
12prkg1-related thoracic aortic aneurysms and aortic dissections10.4CEP152, MCPH1
13treacher collins syndrome 210.3CENPJ, PCNT
14gastric antral vascular ectasia10.3CENPJ, CEP63, MCPH1
15spastic paraplegia 3210.2CENPJ, CEP152, CEP63, MCPH1
16dwarfism10.2
17benign essential hypertension10.1CENPJ, CEP152, CEP63, MCPH1
18mitochondrial respiratory chain complex ii deficiency, sdha-related9.9ORC1, ORC6
19holoprosencephaly9.8
20microcephaly9.8
21cleft lip9.8
22semilobar holoprosencephaly9.8
23schizencephaly9.7
24aplastic anemia9.7
25tetralogy of fallot9.7
26ataxia-telangiectasia9.7
27lig4 syndrome9.7
28tricuspid atresia9.7
29craniosynostosis9.7
30hepatitis9.7
31malignant hypertension9.7
32intracranial aneurysm9.7
33dermatitis9.7
34atopic dermatitis9.7
35cerebritis9.7
36retinitis9.7
37retinal detachment9.7
38intestinal obstruction9.7
39polyarteritis nodosa9.7
40ring chromosome 49.7
41aneurysm9.7
42ataxia9.7
43primary familial brain calcification9.5ATR, ATRIP, CENPJ, CEP152, CEP63, MCPH1
44meier-gorlin syndrome 19.3ATR, ATRIP, CEP152, CEP63, ORC1, ORC4

Graphical network of the top 20 diseases related to Seckel Syndrome 1:



Diseases related to seckel syndrome 1

Symptoms & Phenotypes for Seckel Syndrome 1

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Symptoms by clinical synopsis from OMIM:

210600

Clinical features from OMIM:

210600

Human phenotypes related to Seckel Syndrome 1:

 64 54 (show all 69)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 narrow face64 54 hallmark (90%) Very frequent (99-80%) HP:0000275
3 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
4 convex nasal ridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000444
5 craniosynostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0001363
6 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
7 sandal gap64 54 hallmark (90%) Very frequent (99-80%) HP:0001852
8 clinodactyly of the 5th finger64 54 hallmark (90%) Very frequent (99-80%) HP:0004209
9 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
10 decreased body weight64 hallmark (90%) HP:0004325
11 abnormality of bone mineral density64 hallmark (90%) HP:0004348
12 prematurely aged appearance64 54 hallmark (90%) Very frequent (99-80%) HP:0007495
13 aplasia/hypoplasia of the earlobes64 hallmark (90%) HP:0009906
14 cognitive impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0100543
15 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
16 glaucoma64 54 typical (50%) Frequent (79-30%) HP:0000501
17 abnormality of dental enamel64 54 typical (50%) Frequent (79-30%) HP:0000682
18 joint hypermobility64 typical (50%) HP:0001382
19 abnormality of the hip bone64 typical (50%) HP:0003272
20 reduced number of teeth64 54 typical (50%) Frequent (79-30%) HP:0009804
21 cone-shaped epiphysis64 54 typical (50%) Frequent (79-30%) HP:0010579
22 abnormal hair quantity64 typical (50%) HP:0011362
23 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
24 cryptorchidism64 HP:0000028
25 hypospadias64 HP:0000047
26 clitoral hypertrophy64 HP:0000057
27 cleft palate64 HP:0000175
28 high palate64 HP:0000218
29 small anterior fontanelle64 HP:0000237
30 facial asymmetry64 HP:0000324
31 sloping forehead64 HP:0000340
32 low-set ears64 HP:0000369
33 abnormality of the pinna64 HP:0000377
34 prominent nose64 HP:0000448
35 strabismus64 HP:0000486
36 blepharophimosis64 HP:0000581
37 dental crowding64 HP:0000678
38 dental malocclusion64 HP:0000689
39 hyperactivity64 HP:0000752
40 11 pairs of ribs64 HP:0000878
41 single transverse palmar crease64 HP:0000954
42 large eyes64 HP:0001090
43 intellectual disability64 54 Very frequent (99-80%) HP:0001249
44 seizures64 HP:0001250
45 pachygyria64 HP:0001302
46 cerebellar vermis hypoplasia64 HP:0001320
47 selective tooth agenesis64 HP:0001592
48 pes planus64 HP:0001763
49 pancytopenia64 HP:0001876
50 talipes64 HP:0001883
51 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
52 hip dislocation64 HP:0002827
53 elbow flexion contracture64 HP:0002987
54 dislocated radial head64 HP:0003083
55 proportionate short stature64 HP:0003508
56 abnormal finger flexion creases64 HP:0006143
57 hypoplasia of dental enamel64 HP:0006297
58 hypoplasia of proximal radius64 HP:0006434
59 hypoplasia of proximal fibula64 HP:0006442
60 large basal ganglia64 HP:0007048
61 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
62 ivory epiphyses64 HP:0010583
63 abnormality of earlobe54 Frequent (79-30%)
64 absent earlobe54 Frequent (79-30%)
65 hip dysplasia54 Frequent (79-30%)
66 sparse scalp hair54 Frequent (79-30%)
67 cachexia54 Very frequent (99-80%)
68 joint hyperflexibility54 Frequent (79-30%)
69 mild global developmental delay54 Very frequent (99-80%)

UMLS symptoms related to Seckel Syndrome 1:


seizures

GenomeRNAi Phenotypes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-110.5CENPE, ORC1, ORC4
2GR00250-A-19.1ATR, LIG4, MCPH1, ORC1, PLK4, WDR4

MGI Mouse Phenotypes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.8ATR, CENPE, CENPJ, CEP152, PLK4, RBBP8

Drugs & Therapeutics for Seckel Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Seckel Syndrome 1

Genetic Tests for Seckel Syndrome 1

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Genetic tests related to Seckel Syndrome 1:

id Genetic test Affiliating Genes
1 Seckel Syndrome27 24 RBBP8
2 Seckel Syndrome 127
3 Seckel Syndrome Type 124 ATR

Anatomical Context for Seckel Syndrome 1

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MalaCards organs/tissues related to Seckel Syndrome 1:

36
Bone, Eye

Publications for Seckel Syndrome 1

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Variations for Seckel Syndrome 1

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Clinvar genetic disease variations for Seckel Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATRNM_001184.3(ATR): c.3477G> T (p.Met1159Ile)SNVPathogenicrs587777851GRCh38Chr 3, 142541008: 142541008
2ATRNM_001184.3(ATR): c.6897+464C> GSNVPathogenicrs587777852GRCh38Chr 3, 142465860: 142465860
3ATRNM_001184.3(ATR): c.4641+1G> TSNVPathogenicrs797045403GRCh38Chr 3, 142513500: 142513500
4ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)SNVPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
5ATRNM_001184.3(ATR): c.2022A> G (p.Gly674=)SNVPathogenicrs587776690GRCh37Chr 3, 142275281: 142275281

Expression for genes affiliated with Seckel Syndrome 1

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Search GEO for disease gene expression data for Seckel Syndrome 1.

Pathways for genes affiliated with Seckel Syndrome 1

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Pathways related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.2ATR, RBBP8
2
Show member pathways
9.7ATR, ATRIP, LIG4, TUBGCP6
39.6ORC1, ORC4, ORC6
4
Show member pathways
9.6CENPJ, CEP152, CEP63, PCNT, PLK4
5
Show member pathways
9.4ATR, ORC1, ORC4, ORC6
6
Show member pathways
9.3CENPJ, CEP152, CEP63, PCNT, PLK4, TUBGCP6
7
Show member pathways
9.3ATR, ATRIP, ORC1, ORC4, ORC6
8
Show member pathways
9.1ATR, ATRIP, ORC1, ORC4, ORC6, RBBP8
98.6ATR, ATRIP, CENPE, LIG4, MCPH1, ORC1
10
Show member pathways
7.5ATR, ATRIP, CENPE, CENPJ, CEP152, CEP63

GO Terms for genes affiliated with Seckel Syndrome 1

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Cellular components related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1deuterosomeGO:009853610.9CEP152, PLK4
2chromosomeGO:000569410.8ATR, CENPE, RBBP8
3nuclear origin of replication recognition complexGO:000566410.4ORC1, ORC4, ORC6
4nuclear chromosome, telomeric regionGO:000078410.3ATR, LIG4, ORC1, ORC4
5microtubuleGO:000587410.2CENPE, CENPJ, NIN, PCNT, TUBGCP6
6pericentriolar materialGO:000024210.0CEP152, NIN
7origin recognition complexGO:00008089.9ORC1, ORC4, ORC6
8nucleolusGO:00057309.8NIN, ORC1, ORC4, PLK4, RBBP8, TRAIP
9centrioleGO:00058149.8CENPJ, CEP152, CEP63, CNTLN, NIN, PCNT
10centrosomeGO:00058139.6CENPJ, CEP152, CEP63, NIN, PCNT, PLK4
11nucleoplasmGO:00056548.6ATR, ATRIP, CEP152, LIG4, MCPH1, ORC1

Biological processes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1microtubule nucleationGO:000702010.6CENPJ, TUBGCP6
2DNA damage checkpointGO:000007710.6ATR, ATRIP, CEP63
3centrosome duplicationGO:005129810.6CENPJ, CEP152, TUBGCP6
4centriole replicationGO:000709910.4CENPJ, CEP152, CEP63, PLK4
5cell divisionGO:005130110.2CENPE, CENPJ, CEP63, LIG4, RBBP8
6G2/M transition of mitotic cell cycleGO:000008610.1CENPJ, CEP152, CEP63, PCNT, PLK4
7G1/S transition of mitotic cell cycleGO:000008210.0ORC1, ORC4, ORC6, RBBP8
8regulation of signal transduction by p53 class mediatorGO:190179610.0ATR, ATRIP, RBBP8
9DNA replicationGO:00062609.7ATR, ATRIP, ORC1, ORC4, ORC6, RBBP8

Molecular functions related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.8ATR, ATRIP, CENPE, CENPJ, CEP152, CEP63

Sources for Seckel Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet