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 75 29 13 6 73
Sckl5 57 12 75
Seckel Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
seckel syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



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 high palate and intellectual disability

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 : 75 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

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:
delayed bone age (in some patients)

Genitourinary External Genitalia Female:
clitoromegaly (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)

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

Skeletal Feet:
pes planus (in some patients)


Clinical features from OMIM:

613823

Human phenotypes related to Seckel Syndrome 5:

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

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

Variations for Seckel Syndrome 5

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

75
# Symbol AA change Variation ID SNP ID
1 CEP152 p.Lys667Arg VAR_065258 rs200879436

ClinVar genetic disease variations for Seckel Syndrome 5:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP152 NM_001194998.1(CEP152): c.261+1G> C single nucleotide variant Pathogenic rs966888627 GRCh37 Chromosome 15, 49089857: 49089857
2 CEP152 NM_001194998.1(CEP152): c.261+1G> C single nucleotide variant Pathogenic rs966888627 GRCh38 Chromosome 15, 48797660: 48797660
3 CEP152 NM_001194998.1(CEP152): c.2694+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 15, 48760134: 48760134
4 CEP152 NM_001194998.1(CEP152): c.2694+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 15, 49052331: 49052331
5 CEP152 NM_001194998.1(CEP152): c.4378_4379delGT (p.Val1460Phefs) deletion Likely benign rs141600901 GRCh38 Chromosome 15, 48739003: 48739004
6 CEP152 NM_001194998.1(CEP152): c.4378_4379delGT (p.Val1460Phefs) deletion Likely benign rs141600901 GRCh37 Chromosome 15, 49031200: 49031201
7 CEP152 NM_014985.3(CEP152): c.2000A> G (p.Lys667Arg) single nucleotide variant Likely benign rs200879436 GRCh37 Chromosome 15, 49060434: 49060434
8 CEP152 NM_014985.3(CEP152): c.2000A> G (p.Lys667Arg) single nucleotide variant Likely benign rs200879436 GRCh38 Chromosome 15, 48768237: 48768237
9 CEP152 NM_014985.3(CEP152): c.2878T> C (p.Trp960Arg) single nucleotide variant Uncertain significance rs201342438 GRCh37 Chromosome 15, 49048567: 49048567
10 CEP152 NM_014985.3(CEP152): c.2878T> C (p.Trp960Arg) single nucleotide variant Uncertain significance rs201342438 GRCh38 Chromosome 15, 48756370: 48756370
11 CEP152 NM_014985.3(CEP152): c.2777A> T (p.Glu926Val) single nucleotide variant Uncertain significance rs117557829 GRCh37 Chromosome 15, 49048668: 49048668
12 CEP152 NM_014985.3(CEP152): c.2777A> T (p.Glu926Val) single nucleotide variant Uncertain significance rs117557829 GRCh38 Chromosome 15, 48756471: 48756471
13 CEP152 NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182018947 GRCh37 Chromosome 15, 49059645: 49059645
14 CEP152 NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182018947 GRCh38 Chromosome 15, 48767448: 48767448
15 CENPJ NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs) deletion Pathogenic rs1060499557 GRCh37 Chromosome 13, 25457393: 25457396
16 CENPJ NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs) deletion Pathogenic rs1060499557 GRCh38 Chromosome 13, 24883255: 24883258

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 CENPJ CEP152
2 microtubule organizing center GO:0005815 8.96 CENPJ CEP152
3 centriole GO:0005814 8.62 CENPJ CEP152

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 CENPJ CEP152
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 CENPJ CEP152
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CENPJ CEP152
4 centriole replication GO:0007099 8.96 CENPJ CEP152
5 centrosome duplication GO:0051298 8.62 CENPJ CEP152

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 CENPJ CEP152

Sources for Seckel Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....