MCID: SCK009
MIFTS: 17

Seckel Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Seckel Syndrome 1

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OMIM:45 Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism,... (210600) more...

MalaCards based summary: Seckel Syndrome 1, is also known as seckel syndrome, and has symptoms including autosomal recessive inheritance, cryptorchidism and hypospadias. An important gene associated with Seckel Syndrome 1 is ATR (ataxia telangiectasia and Rad3 related). Affiliated tissues include eye.

Aliases & Classifications for Seckel Syndrome 1

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Seckel Syndrome 1, Aliases & Descriptions:

Name: Seckel Syndrome 1 45 10 20
 
Seckel Syndrome 60


Classifications:



External Ids:

OMIM45 210600

Related Diseases for Seckel Syndrome 1

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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 48)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cryptorchidism HP:0000028
3 hypospadias HP:0000047
4 clitoromegaly HP:0000057
5 cleft palate HP:0000175
6 high palate HP:0000218
7 small anterior fontanelle HP:0000237
8 microcephaly HP:0000252
9 facial asymmetry HP:0000324
10 sloping forehead HP:0000340
11 micrognathia HP:0000347
12 low-set ears HP:0000369
13 abnormality of the pinna HP:0000377
14 convex nasal ridge HP:0000444
15 prominent nose HP:0000448
16 strabismus HP:0000486
17 downslanted palpebral fissures HP:0000494
18 blepharophimosis HP:0000581
19 dental crowding HP:0000678
20 dental malocclusion HP:0000689
21 hyperactivity HP:0000752
22 11 pairs of ribs HP:0000878
23 single transverse palmar crease HP:0000954
24 large eyes HP:0001090
25 intellectual disability HP:0001249
26 seizures HP:0001250
27 pachygyria HP:0001302
28 cerebellar vermis hypoplasia HP:0001320
29 intrauterine growth retardation HP:0001511
30 selective tooth agenesis HP:0001592
31 pes planus HP:0001763
32 sandal gap HP:0001852
33 pancytopenia HP:0001876
34 talipes HP:0001883
35 scoliosis HP:0002650
36 delayed skeletal maturation HP:0002750
37 hip dislocation HP:0002827
38 elbow flexion contracture HP:0002987
39 dislocated radial head HP:0003083
40 proportionate short stature HP:0003508
41 clinodactyly of the 5th finger HP:0004209
42 abnormal finger flexion creases HP:0006143
43 hypoplasia of dental enamel HP:0006297
44 hypoplasia of proximal radius HP:0006434
45 hypoplasia of proximal fibula HP:0006442
46 large basal ganglia HP:0007048
47 cone-shaped epiphyses of the phalanges of the hand HP:0010230
48 ivory epiphyses HP:0010583

Drugs & Therapeutics for Seckel Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Seckel Syndrome 1

Search 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 Type 120 ATR

Anatomical Context for Seckel Syndrome 1

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MalaCards organs/tissues related to Seckel Syndrome 1:

31
Eye

Animal Models for Seckel Syndrome 1 or affiliated genes

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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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ATRNM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)single nucleotide variantPathogenicrs387907327GRCh37Chr 3, 142215958: 142215958
2ATRNM_001184.3(ATR): c.2022A> G (p.Gly674=)single nucleotide variantPathogenicGRCh37Chr 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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Compounds for genes affiliated with Seckel Syndrome 1

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GO Terms for genes affiliated with Seckel Syndrome 1

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Products for genes affiliated with Seckel Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Seckel Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet