MCID: SCK009
MIFTS: 29

Seckel Syndrome 1 malady

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

Aliases & Classifications for Seckel Syndrome 1

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Aliases & Descriptions for Seckel Syndrome 1:

Name: Seckel Syndrome 1 49 11 67
Seckel Syndrome Type 1 22 24
Sckl1 22 67
Microcephalic Primordial Dwarfism I 67
 
Nanocephalic Dwarfism 67
Seckel-Type Dwarfism 67
Bird-Headed Dwarfism 67
Seckel Syndrome 65

Characteristics:

HPO:

61
seckel syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 210600
MedGen34 C0265202
UMLS65 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 seckel syndrome type 1, is related to bird headed-dwarfism, montreal type and seckel syndrome, and has symptoms including ivory epiphyses, cone-shaped epiphyses of the phalanges of the hand and large basal ganglia. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase). Affiliated tissues include eye and bone, and related mouse phenotypes are craniofacial and adipose tissue.

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

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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MGI Mouse Phenotypes related to Seckel Syndrome 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1ATR, SFRP1
2MP:00053758.8ATR, 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 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