SCKL5
MCID: SCK011
MIFTS: 36

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 56 12 73 29 13 6 15 71
Sckl5 56 12 73
Seckel Syndrome, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
seckel syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 5

OMIM : 56 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 microcephaly 18, primary, autosomal dominant and seckel syndrome 6. An important gene associated with Seckel Syndrome 5 is CEP152 (Centrosomal Protein 152), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. 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 : 73 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

Diseases in the Seckel Syndrome family:

Seckel Syndrome 1 Seckel Syndrome 2
Seckel Syndrome 4 Seckel Syndrome 5
Seckel Syndrome 6 Seckel Syndrome 7
Seckel Syndrome 8 Seckel Syndrome 9
Seckel Syndrome 10

Diseases related to Seckel Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 microcephaly 18, primary, autosomal dominant 10.2 CEP152 CENPJ
2 seckel syndrome 6 10.2 CEP63 CEP152
3 microcephaly 9, primary, autosomal recessive 10.1 CEP152 CENPJ
4 microcephaly 8, primary, autosomal recessive 10.1 MCPH1 CEP152
5 seckel syndrome 8 10.0 RBBP8 CEP152
6 microcephaly 17, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
7 microcephaly 6, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
8 microcephaly 12, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
9 microcephaly 7, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
10 microcephaly 4, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
11 microcephaly 11, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
12 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.0 MCPH1 CEP152 CENPJ
13 microcephaly 5, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
14 microcephaly 15, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
15 physical disorder 9.9 MCPH1 CEP152 CENPJ
16 myopathy, congenital, compton-north 9.8 RNF166 CNTN1 CEP152
17 microcephaly 3, primary, autosomal recessive 9.8 MCPH1 CEP63 CEP152 CENPJ
18 autosomal recessive non-syndromic intellectual disability 9.5 RNF166 MCPH1 CEP152
19 microcephaly 1, primary, autosomal recessive 9.5 NNT MCPH1 EXOSC3 CEP152 CENPJ
20 seckel syndrome 2 9.5 RBBP8 PCNT CEP152 CENPJ
21 seckel syndrome 1 9.5 RBBP8 PCNT CEP152 CENPJ
22 microcephaly 9.3 RBBP8 MCPH1 EXOSC3 CEP63 CEP152 CENPJ
23 meier-gorlin syndrome 1 9.2 RBBP8 PCNT CEP63 CEP152 CENPJ
24 microcephalic osteodysplastic primordial dwarfism, type ii 9.2 PCNT MCPH1 CEP63 CEP152 CENPJ
25 joubert syndrome 1 9.1 PCNT MCPH1 CEP152 CENPJ
26 primary microcephaly 9.0 RNF17 PCNT MCPH1 CEP63 CEP152 CENPJ
27 isolated growth hormone deficiency, type ia 9.0 RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
28 congenital nervous system abnormality 8.8 PCNT MCPH1 CEP63 CEP152 CENPJ CDON
29 seckel syndrome 8.8 RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
30 primary autosomal recessive microcephaly 8.7 RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
31 seckel syndrome 4 8.5 TCP10 RNF17 RBBP8 PCNT MCPH1 CEP152

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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
2 pes planus 31 occasional (7.5%) HP:0001763
3 cryptorchidism 31 occasional (7.5%) HP:0000028
4 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
5 strabismus 31 occasional (7.5%) HP:0000486
6 blepharophimosis 31 occasional (7.5%) HP:0000581
7 11 pairs of ribs 31 occasional (7.5%) HP:0000878
8 clitoral hypertrophy 31 occasional (7.5%) HP:0008665
9 intellectual disability 31 HP:0001249
10 high palate 31 HP:0000218
11 short stature 31 HP:0004322
12 micrognathia 31 HP:0000347
13 microcephaly 31 HP:0000252
14 sloping forehead 31 HP:0000340
15 retrognathia 31 HP:0000278
16 prominent nasal bridge 31 HP:0000426
17 clinodactyly of the 5th finger 31 HP:0004209
18 hypodontia 31 HP:0000668
19 convex nasal ridge 31 HP:0000444
20 abnormal cortical gyration 31 HP:0002536
21 oligodontia 31 HP:0000677
22 large beaked nose 31 HP:0003683
23 selective tooth agenesis 31 HP:0001592

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Head:
microcephaly

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)

Head And Neck Face:
micrognathia
sloping forehead
retrognathia

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:

40
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. 56 6
21131973 2011
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 61 6
20301772 2009

Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152):c.261+1G>CSNV Pathogenic 31030 rs966888627 15:49089857-49089857 15:48797660-48797660
2 CEP152 NM_001194998.2(CEP152):c.2694+1G>TSNV Pathogenic 31032 rs1349385657 15:49052331-49052331 15:48760134-48760134
3 CENPJ NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)deletion Pathogenic 403711 rs1060499557 13:25457393-25457396 13:24883255-24883258
4 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)SNV Pathogenic/Likely pathogenic 55 rs267606717 15:49085556-49085556 15:48793359-48793359
5 CEP152 NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)SNV Conflicting interpretations of pathogenicity 95651 rs201342438 15:49048567-49048567 15:48756370-48756370
6 CEP152 NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)SNV Conflicting interpretations of pathogenicity 158246 rs117557829 15:49048668-49048668 15:48756471-48756471
7 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)SNV Conflicting interpretations of pathogenicity 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
8 CEP152 NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)deletion Benign/Likely benign 31033 rs141600901 15:49031200-49031201 15:48739003-48739004
9 CEP152 NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)SNV Benign/Likely benign 31034 rs200879436 15:49060434-49060434 15:48768237-48768237

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

73
# 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

Pathways related to Seckel Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
2
Show member pathways
11.98 PCNT CEP63 CEP152 CENPJ
3 10.82 RBBP8 CEP63

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 cytoskeleton GO:0005856 9.65 PCNT MCPH1 CEP63 CEP152 CENPJ
2 centrosome GO:0005813 9.46 PCNT CEP63 CEP152 CENPJ
3 microtubule organizing center GO:0005815 9.35 PCNT MCPH1 CEP63 CEP152 CENPJ
4 centriole GO:0005814 9.02 TCP10 PCNT CEP63 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 9.56 PCNT CEP63 CEP152 CENPJ
2 negative regulation of nucleic acid-templated transcription GO:1903507 9.54 TCP10 RBBP8 CENPJ
3 ciliary basal body-plasma membrane docking GO:0097711 9.46 PCNT CEP63 CEP152 CENPJ
4 centrosome duplication GO:0051298 9.4 CEP152 CENPJ
5 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.32 CEP63 CEP152
6 centriole replication GO:0007099 9.13 CEP63 CEP152 CENPJ
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.92 PCNT CEP63 CEP152 CENPJ

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

# Name GO ID Score Top Affiliating Genes
1 transcription corepressor activity GO:0003714 8.8 TCP10 RBBP8 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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