MCID: SCK023
MIFTS: 19

Seckel Syndrome Type 1 malady

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

Summaries for Seckel Syndrome Type 1

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OMIM:46 Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism,...210600 more...

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

Aliases & Classifications for Seckel Syndrome Type 1

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Seckel Syndrome Type 1, Aliases & Descriptions:

Name: Seckel Syndrome Type 1 21
 
Seckel Syndrome 1 46 61


Classifications:



Related Diseases for Seckel Syndrome Type 1

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Diseases in the Seckel Syndrome Type 5 family:

Seckel Syndrome seckel syndrome type 1
Seckel Syndrome Type 4 Seckel Syndrome Type 2
Seckel Syndrome Type 6 Seckel Syndrome Type 8
Seckel Syndrome 7

Diseases related to Seckel Syndrome Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome10.2

Symptoms for Seckel Syndrome Type 1

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Symptoms by clinical synopsis from OMIM:

210600

Clinical features from OMIM:

210600

HPO human phenotypes related to Seckel Syndrome Type 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 Type 1

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Drug clinical trials:

Search ClinicalTrials for Seckel Syndrome Type 1

Search NIH Clinical Center for Seckel Syndrome Type 1

Genetic Tests for Seckel Syndrome Type 1

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Genetic tests related to Seckel Syndrome Type 1:

id Genetic test Affiliating Genes
1 Seckel Syndrome Type 121 ATR

Anatomical Context for Seckel Syndrome Type 1

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Animal Models for Seckel Syndrome Type 1 or affiliated genes

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Publications for Seckel Syndrome Type 1

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Variations for Seckel Syndrome Type 1

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Clinvar genetic disease variations for Seckel Syndrome Type 1:

7
id Gene Name 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 Type 1

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Expression patterns in normal tissues for genes affiliated with Seckel Syndrome Type 1

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

Pathways for genes affiliated with Seckel Syndrome Type 1

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Compounds for genes affiliated with Seckel Syndrome Type 1

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GO Terms for genes affiliated with Seckel Syndrome Type 1

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Products for genes affiliated with Seckel Syndrome Type 1

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

Sources for Seckel Syndrome Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet