MCID: SCK009
MIFTS: 31

Seckel Syndrome 1 malady

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

Aliases & Classifications for Seckel Syndrome 1

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Aliases & Descriptions for Seckel Syndrome 1:

Name: Seckel Syndrome 1 50 68 12
Seckel Syndrome Type 1 23 25
Sckl1 23 68
Microcephalic Primordial Dwarfism I 68
 
Nanocephalic Dwarfism 68
Seckel-Type Dwarfism 68
Bird-Headed Dwarfism 68
Seckel Syndrome 66

Characteristics:

HPO:

62
seckel syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 210600
MedGen35 C0265202

Summaries for Seckel Syndrome 1

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OMIM:50 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, cryptorchidism and hypospadias. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase). Affiliated tissues include eye, and related mouse phenotypes are adipose tissue and craniofacial.

UniProtKB/Swiss-Prot:68 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

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Graphical network of diseases related to Seckel Syndrome 1:



Diseases related to seckel syndrome 1

Symptoms for Seckel Syndrome 1

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Symptoms by clinical synopsis from OMIM:

210600

Clinical features from OMIM:

210600

HPO human phenotypes related to Seckel Syndrome 1:

(show all 47)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 hypospadias HP:0000047
3 clitoral hypertrophy HP:0000057
4 cleft palate HP:0000175
5 high palate HP:0000218
6 small anterior fontanelle HP:0000237
7 microcephaly HP:0000252
8 facial asymmetry HP:0000324
9 sloping forehead HP:0000340
10 micrognathia HP:0000347
11 low-set ears HP:0000369
12 abnormality of the pinna HP:0000377
13 convex nasal ridge HP:0000444
14 prominent nose HP:0000448
15 strabismus HP:0000486
16 downslanted palpebral fissures HP:0000494
17 blepharophimosis HP:0000581
18 dental crowding HP:0000678
19 dental malocclusion HP:0000689
20 hyperactivity HP:0000752
21 11 pairs of ribs HP:0000878
22 single transverse palmar crease HP:0000954
23 large eyes HP:0001090
24 intellectual disability HP:0001249
25 seizures HP:0001250
26 pachygyria HP:0001302
27 cerebellar vermis hypoplasia HP:0001320
28 intrauterine growth retardation HP:0001511
29 selective tooth agenesis HP:0001592
30 pes planus HP:0001763
31 sandal gap HP:0001852
32 pancytopenia HP:0001876
33 talipes HP:0001883
34 scoliosis HP:0002650
35 delayed skeletal maturation HP:0002750
36 hip dislocation HP:0002827
37 elbow flexion contracture HP:0002987
38 dislocated radial head HP:0003083
39 proportionate short stature HP:0003508
40 clinodactyly of the 5th finger HP:0004209
41 abnormal finger flexion creases HP:0006143
42 hypoplasia of dental enamel HP:0006297
43 hypoplasia of proximal radius HP:0006434
44 hypoplasia of proximal fibula HP:0006442
45 large basal ganglia HP:0007048
46 cone-shaped epiphyses of the phalanges of the hand HP:0010230
47 ivory epiphyses HP:0010583

UMLS symptoms related to Seckel Syndrome 1:


seizures

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 Syndrome 125
2 Seckel Syndrome Type 123 ATR

Anatomical Context for Seckel Syndrome 1

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MalaCards organs/tissues related to Seckel Syndrome 1:

34
Eye

Animal Models for Seckel Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Seckel Syndrome 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1ATR, SFRP1
2MP:00053829.0ATR, SFRP1

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)single nucleotide variantPathogenicrs587777851GRCh38Chr 3, 142541008: 142541008
2ATRNM_001184.3(ATR): c.6897+464C> Gsingle nucleotide variantPathogenicrs587777852GRCh38Chr 3, 142465860: 142465860
3ATRNM_001184.3(ATR): c.4641+1G> Tsingle nucleotide variantPathogenicrs797045403GRCh37Chr 3, 142232342: 142232342
4ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)single nucleotide variantPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
5ATRNM_001184.3(ATR): c.2022A> G (p.Gly674=)single nucleotide variantPathogenicrs587776690GRCh37Chr 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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GO Terms for genes affiliated with Seckel Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:00424939.1ATR, SFRP1

Sources for Seckel Syndrome 1

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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