SCKL5
MCID: SCK011
MIFTS: 31

Seckel Syndrome 5 (SCKL5)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Seckel Syndrome 5

MalaCards integrated aliases for Seckel Syndrome 5:

Name: Seckel Syndrome 5 57 12 74 29 13 6 72
Sckl5 57 12 74
Seckel Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
seckel syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070012
MedGen 42 C3151187
UMLS 72 C3151187

Summaries for Seckel Syndrome 5

OMIM : 57 Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. (613823)

MalaCards based summary : Seckel Syndrome 5, also known as sckl5, is related to seckel syndrome 4 and seckel syndrome 1. An important gene associated with Seckel Syndrome 5 is CEP152 (Centrosomal Protein 152). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and pes planus

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.

UniProtKB/Swiss-Prot : 74 Seckel syndrome 5: 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 5

Graphical network of the top 20 diseases related to Seckel Syndrome 5:



Diseases related to Seckel Syndrome 5

Symptoms & Phenotypes for Seckel Syndrome 5

Human phenotypes related to Seckel Syndrome 5:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
2 pes planus 32 occasional (7.5%) HP:0001763
3 strabismus 32 occasional (7.5%) HP:0000486
4 cryptorchidism 32 occasional (7.5%) HP:0000028
5 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
6 blepharophimosis 32 occasional (7.5%) HP:0000581
7 11 pairs of ribs 32 occasional (7.5%) HP:0000878
8 clitoral hypertrophy 32 occasional (7.5%) HP:0008665
9 high palate 32 HP:0000218
10 intellectual disability 32 HP:0001249
11 microcephaly 32 HP:0000252
12 short stature 32 HP:0004322
13 micrognathia 32 HP:0000347
14 retrognathia 32 HP:0000278
15 prominent nasal bridge 32 HP:0000426
16 clinodactyly of the 5th finger 32 HP:0004209
17 hypodontia 32 HP:0000668
18 convex nasal ridge 32 HP:0000444
19 sloping forehead 32 HP:0000340
20 abnormal cortical gyration 32 HP:0002536
21 oligodontia 32 HP:0000677
22 large beaked nose 32 HP:0003683
23 selective tooth agenesis 32 HP:0001592

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
retrognathia
sloping forehead

Head And Neck Nose:
beaked nose
high nasal bridge

Head And Neck Mouth:
high-arched palate

Head And Neck Eyes:
downslanting palpebral fissures (in some patients)
blepharophimosis (in some patients)
strabismus (in some patients)

Skeletal Feet:
pes planus (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs (in some patients)

Growth Height:
short stature

Head And Neck Teeth:
hypodontia
oligodontia
enamel hypoplasia (in some patients) selective tooth agenesis

Skeletal Hands:
fifth finger clinodactyly

Neurologic Central Nervous System:
mental retardation
simplified gyri

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal:
delayed bone age (in some patients)

Genitourinary External Genitalia Female:
clitoromegaly (in some patients)

Clinical features from OMIM:

613823

Drugs & Therapeutics for Seckel Syndrome 5

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 5

Genetic Tests for Seckel Syndrome 5

Genetic tests related to Seckel Syndrome 5:

# Genetic test Affiliating Genes
1 Seckel Syndrome 5 29 CEP152

Anatomical Context for Seckel Syndrome 5

MalaCards organs/tissues related to Seckel Syndrome 5:

41
Bone

Publications for Seckel Syndrome 5

Articles related to Seckel Syndrome 5:

# Title Authors PMID Year
1
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 8 71
21131973 2011
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 38 71
20301772 2009

Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152): c.261+1G> C single nucleotide variant Pathogenic rs966888627 15:49089857-49089857 15:48797660-48797660
2 CEP152 NM_001194998.2(CEP152): c.2694+1G> T single nucleotide variant Pathogenic rs1349385657 15:49052331-49052331 15:48760134-48760134
3 CENPJ NM_018451.5(CENPJ): c.3936_3939del (p.His1313fs) deletion Pathogenic rs1060499557 13:25457393-25457396 13:24883255-24883258
4 CEP152 NM_001194998.2(CEP152): c.794A> C (p.Gln265Pro) single nucleotide variant Pathogenic/Likely pathogenic rs267606717 15:49085556-49085556 15:48793359-48793359
5 CEP152 NM_001194998.2(CEP152): c.2034T> G (p.Tyr678Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182018947 15:49059645-49059645 15:48767448-48767448
6 CEP152 NM_001194998.2(CEP152): c.2777A> T (p.Glu926Val) single nucleotide variant Uncertain significance rs117557829 15:49048668-49048668 15:48756471-48756471
7 CEP152 NM_001194998.2(CEP152): c.2878T> C (p.Trp960Arg) single nucleotide variant Uncertain significance rs201342438 15:49048567-49048567 15:48756370-48756370
8 CEP152 NM_001194998.2(CEP152): c.4378_4379del (p.Val1460fs) deletion Likely benign rs141600901 15:49031200-49031201 15:48739003-48739004
9 CEP152 NM_001194998.2(CEP152): c.2000A> G (p.Lys667Arg) single nucleotide variant Likely benign rs200879436 15:49060434-49060434 15:48768237-48768237

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 5:

74
# Symbol AA change Variation ID SNP ID
1 CEP152 p.Lys667Arg VAR_065258 rs200879436

Expression for Seckel Syndrome 5

Search GEO for disease gene expression data for Seckel Syndrome 5.

Pathways for Seckel Syndrome 5

GO Terms for Seckel Syndrome 5

Cellular components related to Seckel Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.16 CEP152 CENPJ
2 microtubule organizing center GO:0005815 8.96 CEP152 CENPJ
3 centriole GO:0005814 8.62 CEP152 CENPJ

Biological processes related to Seckel Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.32 CEP152 CENPJ
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP152 CENPJ
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CEP152 CENPJ
4 centriole replication GO:0007099 8.96 CEP152 CENPJ
5 centrosome duplication GO:0051298 8.62 CEP152 CENPJ

Molecular functions related to Seckel Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.62 CEP152 CENPJ

Sources for Seckel Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....