SCKL1
MCID: SCK009
MIFTS: 40

Seckel Syndrome 1 (SCKL1) malady

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

Aliases & Classifications for Seckel Syndrome 1

Aliases & Descriptions for Seckel Syndrome 1:

Name: Seckel Syndrome 1 54 66 13
Seckel Syndrome Type 1 24 29
Sckl1 24 66
Microcephalic Primordial Dwarfism I 66
Nanocephalic Dwarfism 66
Bird-Headed Dwarfism 66
Seckel-Type Dwarfism 66
Seckel Syndrome 69

Characteristics:

HPO:

32
seckel syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 210600
MedGen 40 C0265202

Summaries for Seckel Syndrome 1

OMIM : 54 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 type 1, is related to seckel syndrome and microcephalic primordial dwarfism, montreal type, and has symptoms including seizures, low-set ears and high palate. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cell Cycle Checkpoints. Affiliated tissues include eye, and related phenotypes are Decreased viability after gemcitabine stimulation and Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Seckel Syndrome 1

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



Diseases related to Seckel Syndrome 1

Symptoms & Phenotypes for Seckel Syndrome 1

Symptoms by clinical synopsis from OMIM:

210600

Clinical features from OMIM:

210600

Human phenotypes related to Seckel Syndrome 1:

32 (show all 48)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 scoliosis 32 HP:0002650
6 dental malocclusion 32 HP:0000689
7 delayed skeletal maturation 32 HP:0002750
8 pes planus 32 HP:0001763
9 microcephaly 32 HP:0000252
10 cleft palate 32 HP:0000175
11 micrognathia 32 HP:0000347
12 pancytopenia 32 HP:0001876
13 strabismus 32 HP:0000486
14 cryptorchidism 32 HP:0000028
15 postnatal growth retardation 32 HP:0008897
16 abnormality of the pinna 32 HP:0000377
17 hip dislocation 32 HP:0002827
18 intrauterine growth retardation 32 HP:0001511
19 hypospadias 32 HP:0000047
20 clinodactyly of the 5th finger 32 HP:0004209
21 dental crowding 32 HP:0000678
22 downslanted palpebral fissures 32 HP:0000494
23 sandal gap 32 HP:0001852
24 blepharophimosis 32 HP:0000581
25 convex nasal ridge 32 HP:0000444
26 facial asymmetry 32 HP:0000324
27 pachygyria 32 HP:0001302
28 sloping forehead 32 HP:0000340
29 talipes 32 HP:0001883
30 hyperactivity 32 HP:0000752
31 prominent nose 32 HP:0000448
32 single transverse palmar crease 32 HP:0000954
33 cerebellar vermis hypoplasia 32 HP:0001320
34 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
35 11 pairs of ribs 32 HP:0000878
36 dislocated radial head 32 HP:0003083
37 hypoplasia of dental enamel 32 HP:0006297
38 selective tooth agenesis 32 HP:0001592
39 proportionate short stature 32 HP:0003508
40 clitoral hypertrophy 32 HP:0008665
41 abnormal finger flexion creases 32 HP:0006143
42 elbow flexion contracture 32 HP:0002987
43 large eyes 32 HP:0001090
44 hypoplasia of proximal radius 32 HP:0006434
45 small anterior fontanelle 32 HP:0000237
46 hypoplasia of proximal fibula 32 HP:0006442
47 large basal ganglia 32 HP:0007048
48 ivory epiphyses 32 HP:0010583

UMLS symptoms related to Seckel Syndrome 1:


seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after gemcitabine stimulation GR00107-A-2 9.16 ATM ATR
2 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.96 ATM ATR
3 Transferrin accumulation in the perinuclear area GR00356-A-3 8.62 ATM ATR

Drugs & Therapeutics for Seckel Syndrome 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903

Search NIH Clinical Center for Seckel Syndrome 1

Genetic Tests for Seckel Syndrome 1

Genetic tests related to Seckel Syndrome 1:

id Genetic test Affiliating Genes
1 Seckel Syndrome 1 29
2 Seckel Syndrome Type 1 24 ATR

Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

39
Eye

Publications for Seckel Syndrome 1

Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATR NM_001184.3(ATR): c.2022A> G (p.Gly674=) single nucleotide variant Pathogenic rs587776690 GRCh37 Chromosome 3, 142275281: 142275281
2 ATR NM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr) single nucleotide variant Pathogenic rs387907327 GRCh37 Chromosome 3, 142215958: 142215958
3 ATR NM_001184.3(ATR): c.3477G> T (p.Met1159Ile) single nucleotide variant Pathogenic rs587777851 GRCh38 Chromosome 3, 142541008: 142541008
4 ATR NM_001184.3(ATR): c.6897+464C> G single nucleotide variant Pathogenic rs587777852 GRCh38 Chromosome 3, 142465860: 142465860
5 ATR NM_001184.3(ATR): c.4641+1G> T single nucleotide variant Pathogenic rs797045403 GRCh38 Chromosome 3, 142513500: 142513500

Expression for Seckel Syndrome 1

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

Pathways for Seckel Syndrome 1

GO Terms for Seckel Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.13 CNTLN NIN PCNT
2 centriole GO:0005814 8.8 CNTLN NIN PCNT

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

id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.54 ATM ATR ORC6
2 regulation of signal transduction by p53 class mediator GO:1901796 9.48 ATM ATR
3 regulation of cellular response to heat GO:1900034 9.46 ATM ATR
4 positive regulation of telomere maintenance via telomerase GO:0032212 9.43 ATM ATR
5 cellular response to gamma radiation GO:0071480 9.4 ATM ATR
6 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.32 ATM ATR
7 replicative senescence GO:0090399 9.26 ATM ATR
8 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.16 ATM ATR
9 establishment of RNA localization to telomere GO:0097694 8.96 ATM ATR
10 establishment of macromolecular complex localization to telomere GO:0097695 8.62 ATM ATR

Sources for Seckel Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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