MCID: SCK009
MIFTS: 26

Seckel Syndrome 1 malady

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

Aliases & Classifications for Seckel Syndrome 1

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Aliases & Descriptions for Seckel Syndrome 1:

Name: Seckel Syndrome 1 49 11 22 67
Sckl1 22 67
Microcephalic Primordial Dwarfism I 67
Nanocephalic Dwarfism 67
 
Bird-Headed Dwarfism 67
Seckel-Type Dwarfism 67
Seckel Syndrome 65


Classifications:



External Ids:

OMIM49 210600
MedGen34 C0265202

Summaries for Seckel Syndrome 1

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OMIM:49 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 sckl1, is related to seckel syndrome and dwarfism, and has symptoms including autosomal recessive inheritance, cryptorchidism and hypospadias. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase). Affiliated tissues include eye and bone.

UniProtKB/Swiss-Prot:67 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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Diseases in the Seckel Syndrome family:

seckel syndrome 1 Seckel Syndrome 6
Seckel Syndrome 8 Seckel Syndrome 4
Seckel Syndrome 7 Seckel Syndrome 5
Seckel Syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome10.5
2dwarfism10.5
3bird headed-dwarfism, montreal type10.5
4seckel syndrome 210.2
5microcephaly10.2
6bangstad syndrome10.2
7microcephalic primordial dwarfism, montreal type10.2
8seckel like syndrome majoor-krakauer type10.2
9seckel syndrome 810.1

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 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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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 Type 122 ATR

Anatomical Context for Seckel Syndrome 1

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MalaCards organs/tissues related to Seckel Syndrome 1:

33
Eye, Bone

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:

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 variantPathogenicrs797045403GRCh38Chr 3, 142513500: 142513500
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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Sources for Seckel Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet