SCKL5
MCID: SCK011
MIFTS: 39

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 seckel syndrome 6 and seckel syndrome 8. 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 34)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 6 10.2 CEP63 CEP152
2 seckel syndrome 8 10.2 RBBP8 CEP152
3 microcephaly 13, primary, autosomal recessive 10.1 MCPH1 CEP152
4 microcephaly 8, primary, autosomal recessive 10.1 MCPH1 CEP152 CENPJ
5 microcephaly 14, primary, autosomal recessive 10.1 MCPH1 CEP152
6 microcephaly 18, primary, autosomal dominant 10.0 MCPH1 CEP152 CENPJ
7 microcephaly 9, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
8 microcephaly 6, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
9 microcephaly 17, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
10 microcephaly 11, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
11 microcephaly 12, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
12 microcephaly 4, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
13 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.0 MCPH1 CEP152 CENPJ
14 microcephaly 7, primary, autosomal recessive 9.9 MCPH1 CEP63 CEP152 CENPJ
15 microcephaly 3, primary, autosomal recessive 9.9 MCPH1 CEP63 CEP152 CENPJ
16 microcephaly 5, primary, autosomal recessive 9.8 MCPH1 CEP63 CEP152 CENPJ
17 myopathy, congenital, compton-north 9.8 RNF166 CNTN1 CEP152
18 band heterotopia 9.8 MCPH1 CENPJ
19 meier-gorlin syndrome 1 9.8 PCNT CEP152 CENPJ
20 seckel syndrome 2 9.6 RBBP8 PCNT CEP152 CENPJ
21 seckel syndrome 1 9.6 RBBP8 PCNT CEP152 CENPJ
22 autosomal recessive non-syndromic intellectual disability 9.6 RNF166 MCPH1 CEP152
23 physical disorder 9.5 PCNT MCPH1 CEP152 CENPJ
24 microcephaly 1, primary, autosomal recessive 9.5 NNT MCPH1 EXOSC3 CEP152 CENPJ
25 microcephalic osteodysplastic primordial dwarfism, type ii 9.4 PCNT MCPH1 CEP63 CEP152 CENPJ
26 joubert syndrome 1 9.4 PCNT CEP63 CEP152 CENPJ
27 congenital nervous system abnormality 9.4 PCNT MCPH1 CEP63 CEP152 CENPJ
28 generalized epilepsy with febrile seizures plus, type 9 9.2 RNF166 CNTN1 CEP152 CDON
29 primary microcephaly 9.2 RNF17 PCNT MCPH1 CEP63 CEP152 CENPJ
30 microcephaly 9.2 RNF17 RBBP8 MCPH1 EXOSC3 CEP63 CEP152
31 isolated growth hormone deficiency, type ia 9.2 RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
32 seckel syndrome 9.0 RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
33 primary autosomal recessive microcephaly 9.0 RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
34 seckel syndrome 4 8.8 TCP10L3 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 strabismus 31 occasional (7.5%) HP:0000486
4 cryptorchidism 31 occasional (7.5%) HP:0000028
5 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
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 microcephaly 31 HP:0000252
11 short stature 31 HP:0004322
12 high palate 31 HP:0000218
13 retrognathia 31 HP:0000278
14 micrognathia 31 HP:0000347
15 clinodactyly of the 5th finger 31 HP:0004209
16 prominent nasal bridge 31 HP:0000426
17 hypodontia 31 HP:0000668
18 convex nasal ridge 31 HP:0000444
19 sloping forehead 31 HP:0000340
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
Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia
micrognathia
sloping forehead

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal Hands:
fifth finger clinodactyly

Neurologic Central Nervous System:
mental retardation
simplified gyri

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

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)

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. 6 56
21131973 2011
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301772 2009

Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

6 (show top 50) (show all 107) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.4757G>C (p.Arg1586Pro)SNV Conflicting interpretations of pathogenicity 384842 rs202237336 15:49030822-49030822 15:48738625-48738625
6 CEP152 NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln)SNV Conflicting interpretations of pathogenicity 388204 rs201942310 15:49081189-49081189 15:48788992-48788992
7 CEP152 NM_001194998.2(CEP152):c.*255T>CSNV Conflicting interpretations of pathogenicity 316402 rs187213125 15:49030191-49030191 15:48737994-48737994
8 CEP152 NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)SNV Conflicting interpretations of pathogenicity 316430 rs201217824 15:49085583-49085583 15:48793386-48793386
9 CEP152 NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)SNV Conflicting interpretations of pathogenicity 316431 rs200957146 15:49088254-49088254 15:48796057-48796057
10 CEP152 NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)SNV Conflicting interpretations of pathogenicity 95651 rs201342438 15:49048567-49048567 15:48756370-48756370
11 CEP152 NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu)SNV Conflicting interpretations of pathogenicity 781990 15:49044618-49044618 15:48752421-48752421
12 CEP152 NM_001194998.2(CEP152):c.2826C>T (p.Asn942=)SNV Conflicting interpretations of pathogenicity 755782 15:49048619-49048619 15:48756422-48756422
13 CEP152 NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)SNV Conflicting interpretations of pathogenicity 158272 rs1048042 15:49030464-49030464 15:48738267-48738267
14 CEP152 NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)SNV Conflicting interpretations of pathogenicity 158266 rs77745570 15:49030835-49030835 15:48738638-48738638
15 CEP152 NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)SNV Conflicting interpretations of pathogenicity 158262 rs149478199 15:49033819-49033819 15:48741622-48741622
16 CEP152 NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)SNV Conflicting interpretations of pathogenicity 158246 rs117557829 15:49048668-49048668 15:48756471-48756471
17 CEP152 NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)SNV Conflicting interpretations of pathogenicity 158245 rs145138194 15:49052345-49052345 15:48760148-48760148
18 CEP152 NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)SNV Conflicting interpretations of pathogenicity 158242 rs149176738 15:49059275-49059275 15:48767078-48767078
19 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)SNV Conflicting interpretations of pathogenicity 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
20 CEP152 NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)SNV Conflicting interpretations of pathogenicity 158234 rs61737684 15:49061195-49061195 15:48768998-48768998
21 CEP152 NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)SNV Conflicting interpretations of pathogenicity 158253 rs74553953 15:49048132-49048132 15:48755935-48755935
22 CEP152 NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)SNV Conflicting interpretations of pathogenicity 158224 rs181295720 15:49076311-49076311 15:48784114-48784114
23 CEP152 NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)SNV Conflicting interpretations of pathogenicity 158257 rs188101277 15:49089694-49089694 15:48797497-48797497
24 CEP152 NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr)SNV Conflicting interpretations of pathogenicity 316433 rs374200686 15:49097843-49097843 15:48805646-48805646
25 CEP152 NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)SNV Conflicting interpretations of pathogenicity 316410 rs186930123 15:49031404-49031404 15:48739207-48739207
26 CEP152 NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=)SNV Conflicting interpretations of pathogenicity 316412 rs199777941 15:49036492-49036492 15:48744295-48744295
27 CEP152 NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)SNV Conflicting interpretations of pathogenicity 316429 rs199862615 15:49083481-49083481 15:48791284-48791284
28 CEP152 NM_001194998.2(CEP152):c.-77G>CSNV Conflicting interpretations of pathogenicity 316435 rs141463032 15:49103227-49103227 15:48811030-48811030
29 CEP152 NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr)SNV Uncertain significance 316422 rs199690309 15:49059638-49059638 15:48767441-48767441
30 CEP152 NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His)SNV Uncertain significance 316411 rs886051260 15:49034222-49034222 15:48742025-48742025
31 CEP152 NM_001194998.2(CEP152):c.1185C>T (p.Cys395=)SNV Uncertain significance 316425 rs377258492 15:49076306-49076306 15:48784109-48784109
32 CEP152 NM_001194998.2(CEP152):c.930A>T (p.Ala310=)SNV Uncertain significance 316428 rs779255588 15:49083476-49083476 15:48791279-48791279
33 CEP152 NM_001194998.2(CEP152):c.-10C>GSNV Uncertain significance 316434 rs886051266 15:49103160-49103160 15:48810963-48810963
34 CEP152 NM_001194998.2(CEP152):c.*73A>CSNV Uncertain significance 316406 rs886051259 15:49030373-49030373 15:48738176-48738176
35 CEP152 NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His)SNV Uncertain significance 316407 rs771595097 15:49030571-49030571 15:48738374-48738374
36 CEP152 NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg)SNV Uncertain significance 316408 rs776286310 15:49030594-49030594 15:48738397-48738397
37 CEP152 NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=)SNV Uncertain significance 316409 rs370000548 15:49031154-49031154 15:48738957-48738957
38 CEP152 NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn)SNV Uncertain significance 158226 rs200227733 15:49090203-49090203 15:48798006-48798006
39 CEP152 NM_001194998.2(CEP152):c.1578-6C>GSNV Uncertain significance 158230 rs80239443 15:49064894-49064894 15:48772697-48772697
40 CEP152 NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=)SNV Uncertain significance 158256 rs138151279 15:49044583-49044583 15:48752386-48752386
41 CEP152 NM_001194998.2(CEP152):c.*51G>ASNV Uncertain significance 886821 15:49030395-49030395 15:48738198-48738198
42 CEP152 NM_001194998.2(CEP152):c.*33A>GSNV Uncertain significance 886822 15:49030413-49030413 15:48738216-48738216
43 CEP152 NM_001194998.2(CEP152):c.*7T>CSNV Uncertain significance 888097 15:49030439-49030439 15:48738242-48738242
44 CEP152 NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met)SNV Uncertain significance 884968 15:49030645-49030645 15:48738448-48738448
45 CEP152 NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=)SNV Uncertain significance 884969 15:49030707-49030707 15:48738510-48738510
46 CEP152 NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala)SNV Uncertain significance 885879 15:49030841-49030841 15:48738644-48738644
47 CEP152 NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser)SNV Uncertain significance 886872 15:49030963-49030963 15:48738766-48738766
48 CEP152 NM_001194998.2(CEP152):c.4320T>C (p.His1440=)SNV Uncertain significance 886873 15:49031259-49031259 15:48739062-48739062
49 CEP152 NM_001194998.2(CEP152):c.4242G>A (p.Arg1414=)SNV Uncertain significance 888153 15:49031337-49031337 15:48739140-48739140
50 CEP152 NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His)SNV Uncertain significance 885034 15:49036472-49036472 15:48744275-48744275

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 TCP10L3 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 TCP10L3 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 TCP10L3 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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