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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Seckel Syndrome 1:

Name: Seckel Syndrome 1 51 69 12
Seckel Syndrome 11 47 24 53 26 49 13 67
Nanocephalic Dwarfism 47 24 69
Bird-Headed Dwarfism 11 47 69
Microcephalic Primordial Dwarfism 11 24
Seckel Syndrome Type 1 24 26
 
Seckel-Type Dwarfism 47 69
Sckl1 24 69
Microcephalic Primordial Dwarfism I 69
Virchow-Seckel Dwarfism 11
Harper's Syndrome 11
Sckl 47

Characteristics:

Orphanet epidemiological data:

53
seckel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

HPO:

63
seckel syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 210600
Disease Ontology11 DOID:0050569
ICD1029 Q87.1
Orphanet53 ORPHA808
MESH via Orphanet39 C537533
UMLS via Orphanet68 C0265202
ICD10 via Orphanet30 Q87.1
MedGen36 C0265202

Summaries for Seckel Syndrome 1

About this section
OMIM:51 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 phenotype embryo.

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

UniProtKB/Swiss-Prot:69 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:70 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Related Diseases for Seckel Syndrome 1

About this section

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 for Seckel Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

210600

Clinical features from OMIM:

210600

Human phenotypes related to Seckel Syndrome 1:

 63 53 (show all 69)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 narrow face63 53 hallmark (90%) Very frequent (99-80%) HP:0000275
3 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
4 convex nasal ridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000444
5 craniosynostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0001363
6 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
7 sandal gap63 53 hallmark (90%) Very frequent (99-80%) HP:0001852
8 clinodactyly of the 5th finger63 53 hallmark (90%) Very frequent (99-80%) HP:0004209
9 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
10 decreased body weight63 hallmark (90%) HP:0004325
11 abnormality of bone mineral density63 hallmark (90%) HP:0004348
12 prematurely aged appearance63 53 hallmark (90%) Very frequent (99-80%) HP:0007495
13 aplasia/hypoplasia of the earlobes63 hallmark (90%) HP:0009906
14 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
15 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
16 glaucoma63 53 typical (50%) Frequent (79-30%) HP:0000501
17 abnormality of dental enamel63 53 typical (50%) Frequent (79-30%) HP:0000682
18 joint hypermobility63 typical (50%) HP:0001382
19 abnormality of the hip bone63 typical (50%) HP:0003272
20 reduced number of teeth63 53 typical (50%) Frequent (79-30%) HP:0009804
21 cone-shaped epiphysis63 53 typical (50%) Frequent (79-30%) HP:0010579
22 abnormal hair quantity63 typical (50%) HP:0011362
23 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
24 cryptorchidism63 HP:0000028
25 hypospadias63 HP:0000047
26 clitoral hypertrophy63 HP:0000057
27 cleft palate63 HP:0000175
28 high palate63 HP:0000218
29 small anterior fontanelle63 HP:0000237
30 facial asymmetry63 HP:0000324
31 sloping forehead63 HP:0000340
32 low-set ears63 HP:0000369
33 abnormality of the pinna63 HP:0000377
34 prominent nose63 HP:0000448
35 strabismus63 HP:0000486
36 blepharophimosis63 HP:0000581
37 dental crowding63 HP:0000678
38 dental malocclusion63 HP:0000689
39 hyperactivity63 HP:0000752
40 11 pairs of ribs63 HP:0000878
41 single transverse palmar crease63 HP:0000954
42 large eyes63 HP:0001090
43 intellectual disability63 53 Very frequent (99-80%) HP:0001249
44 seizures63 HP:0001250
45 pachygyria63 HP:0001302
46 cerebellar vermis hypoplasia63 HP:0001320
47 selective tooth agenesis63 HP:0001592
48 pes planus63 HP:0001763
49 pancytopenia63 HP:0001876
50 talipes63 HP:0001883
51 delayed skeletal maturation63 53 Very frequent (99-80%) HP:0002750
52 hip dislocation63 HP:0002827
53 elbow flexion contracture63 HP:0002987
54 dislocated radial head63 HP:0003083
55 proportionate short stature63 HP:0003508
56 abnormal finger flexion creases63 HP:0006143
57 hypoplasia of dental enamel63 HP:0006297
58 hypoplasia of proximal radius63 HP:0006434
59 hypoplasia of proximal fibula63 HP:0006442
60 large basal ganglia63 HP:0007048
61 cone-shaped epiphyses of the phalanges of the hand63 HP:0010230
62 ivory epiphyses63 HP:0010583
63 abnormality of earlobe53 Frequent (79-30%)
64 absent earlobe53 Frequent (79-30%)
65 hip dysplasia53 Frequent (79-30%)
66 sparse scalp hair53 Frequent (79-30%)
67 cachexia53 Very frequent (99-80%)
68 joint hyperflexibility53 Frequent (79-30%)
69 mild global developmental delay53 Very frequent (99-80%)

UMLS symptoms related to Seckel Syndrome 1:


seizures

Drugs & Therapeutics for Seckel Syndrome 1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Seckel Syndrome 1

Genetic Tests for Seckel Syndrome 1

About this section

Genetic tests related to Seckel Syndrome 1:

id Genetic test Affiliating Genes
1 Seckel Syndrome26 24 RBBP8
2 Seckel Syndrome 126
3 Seckel Syndrome Type 124 ATR

Anatomical Context for Seckel Syndrome 1

About this section

MalaCards organs/tissues related to Seckel Syndrome 1:

35
Bone, Eye

Animal Models for Seckel Syndrome 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Seckel Syndrome 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.8ATR, CENPE, CENPJ, CEP152, PLK4, RBBP8

Publications for Seckel Syndrome 1

About this section

Variations for Seckel Syndrome 1

About this section

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

About this section
Search GEO for disease gene expression data for Seckel Syndrome 1.

Pathways for genes affiliated with Seckel Syndrome 1

About this section

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

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1deuterosomeGO:009853610.7CEP152, PLK4
2pericentriolar materialGO:000024210.7CEP152, NIN
3chromosomeGO:000569410.4ATR, CENPE, RBBP8
4origin recognition complexGO:000080810.3ORC1, ORC4, ORC6
5nuclear origin of replication recognition complexGO:000566410.3ORC1, ORC4, ORC6
6nuclear chromosome, telomeric regionGO:000078410.0ATR, LIG4, ORC1, ORC4
7centrioleGO:00058149.6CENPJ, CEP152, CEP63, CNTLN, NIN, PCNT
8microtubuleGO:00058749.4CENPE, CENPJ, NIN, PCNT, TUBGCP6
9centrosomeGO:00058139.0CENPJ, CEP152, CEP63, NIN, PCNT, PLK4
10nucleolusGO:00057309.0NIN, ORC1, ORC4, PLK4, RBBP8, TRAIP
11nucleoplasmGO:00056548.2ATR, 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:000702010.4CENPJ, TUBGCP6
2centrosome duplicationGO:005129810.3CENPJ, CEP152, TUBGCP6
3regulation of signal transduction by p53 class mediatorGO:190179610.2ATR, ATRIP, RBBP8
4centriole replicationGO:000709910.0CENPJ, CEP152, CEP63, PLK4
5G2/M transition of mitotic cell cycleGO:00000869.6CENPJ, CEP152, CEP63, PCNT, PLK4
6DNA damage checkpointGO:00000779.6ATR, ATRIP, CEP63
7cell divisionGO:00513019.5CENPE, CENPJ, CEP63, LIG4, RBBP8
8G1/S transition of mitotic cell cycleGO:00000829.3ORC1, ORC4, ORC6, RBBP8
9DNA replicationGO:00062609.2ATR, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet