SCKL5
MCID: SCK011
MIFTS: 39

Seckel Syndrome 5 (SCKL5)

Categories: Bone diseases, Eye 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 73 29 13 6 15 71
Sckl5 57 12 73
Seckel Syndrome, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
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) (Updated 05-Mar-2021)

MalaCards based summary : Seckel Syndrome 5, also known as sckl5, is related to seckel syndrome 6 and microcephaly 14, primary, autosomal recessive. 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 36)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 6 10.2 CEP63 CEP152
2 microcephaly 14, primary, autosomal recessive 10.2 CEP152 CENPJ
3 microcephaly 10, primary, autosomal recessive 10.1 CEP152 CENPJ
4 seckel syndrome 8 10.1 RBBP8 CEP152
5 microcephaly 8, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
6 microcephaly 18, primary, autosomal dominant 10.0 MCPH1 CEP152 CENPJ
7 microcephaly 17, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
8 microcephaly 13, primary, autosomal recessive 10.0 MCPH1 CEP152
9 microcephaly 12, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
10 microcephaly 9, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
11 microcephaly 6, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
12 microcephaly 4, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
13 microcephaly 11, primary, autosomal recessive 10.0 MCPH1 CENPJ
14 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.0 MCPH1 CEP152 CENPJ
15 mosaic variegated aneuploidy syndrome 10.0 PCNT CEP63 CEP152
16 myopathy, congenital, compton-north 9.9 TRAPPC9 RNF166 CEP152
17 isolated growth hormone deficiency 9.9 PCNT CEP63 CEP152 CENPJ
18 microcephaly 3, primary, autosomal recessive 9.9 MCPH1 CEP63 CEP152 CENPJ
19 microcephaly 7, primary, autosomal recessive 9.9 MCPH1 CEP63 CEP152 CENPJ
20 microcephaly 5, primary, autosomal recessive 9.9 MCPH1 CEP63 CEP152 CENPJ
21 seckel syndrome 1 9.9 RBBP8 PCNT CEP152 CENPJ
22 primary microcephaly 9.8 MCPH1 CEP63 CEP152 CENPJ
23 band heterotopia 9.8 MCPH1 CENPJ
24 physical disorder 9.7 PCNT MCPH1 CEP152 CENPJ
25 microcephalic osteodysplastic primordial dwarfism, type ii 9.7 PCNT MCPH1 CEP63 CEP152 CENPJ
26 seckel syndrome 2 9.6 RBBP8 PCNT MCPH1 CEP152 CENPJ
27 joubert syndrome 1 9.6 PCNT CEP63 CEP152 CENPJ
28 generalized epilepsy with febrile seizures plus, type 9 9.6 TRAPPC9 RNF166 CEP152 CDON
29 microcephaly 1, primary, autosomal recessive 9.6 NNT MCPH1 EXOSC3 CEP152 CENPJ
30 isolated growth hormone deficiency, type ia 9.5 RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
31 autosomal recessive non-syndromic intellectual disability 9.3 TRAPPC9 RNF166 MCPH1 CEP152 CDON
32 seckel syndrome 9.3 RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
33 congenital nervous system abnormality 9.3 PCNT MCPH1 CEP63 CEP152 CENPJ CDON
34 primary autosomal recessive microcephaly 9.3 RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
35 seckel syndrome 4 9.0 TCP10L3 RNF17 RBBP8 PCNT MCPH1 CEP152
36 microcephaly 8.8 TRAPPC9 RBBP8 PCNT MCPH1 EXOSC3 CEP63

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 high palate 31 HP:0000218
11 microcephaly 31 HP:0000252
12 short stature 31 HP:0004322
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®:

57 (Updated 05-Mar-2021)
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
selective tooth agenesis
enamel hypoplasia (in some patients)

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 (Updated 05-Mar-2021)

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. 57 6
21131973 2011
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009

Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152):c.261+1G>C SNV Pathogenic 31030 rs966888627 15:49089857-49089857 15:48797660-48797660
2 CEP152 NM_001194998.2(CEP152):c.2694+1G>T SNV Pathogenic 31032 rs1349385657 15:49052331-49052331 15:48760134-48760134
3 CEP152 NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) Deletion Pathogenic 31033 rs141600901 15:49031200-49031201 15:48739003-48739004
4 CEP152 NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) SNV Pathogenic 31034 rs200879436 15:49060434-49060434 15:48768237-48768237
5 CENPJ NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) Deletion Pathogenic 403711 rs1060499557 13:25457393-25457396 13:24883255-24883258
6 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) SNV Pathogenic 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
7 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) SNV Pathogenic 55 rs267606717 15:49085556-49085556 15:48793359-48793359
8 CEP152 NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter) SNV Likely pathogenic 930905 15:49089510-49089510 15:48797313-48797313
9 CEP152 NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter) SNV Likely pathogenic 931704 15:49089695-49089695 15:48797498-48797498
10 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) SNV Conflicting interpretations of pathogenicity 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
11 CEP152 NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met) SNV Uncertain significance 884968 15:49030645-49030645 15:48738448-48738448
12 CEP152 NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=) SNV Uncertain significance 884969 15:49030707-49030707 15:48738510-48738510
13 CEP152 NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His) SNV Uncertain significance 885034 15:49036472-49036472 15:48744275-48744275
14 CEP152 NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) SNV Uncertain significance 885097 15:49048506-49048506 15:48756309-48756309
15 CEP152 NM_001194998.2(CEP152):c.1650A>G (p.Val550=) SNV Uncertain significance 885170 15:49064816-49064816 15:48772619-48772619
16 CEP152 NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) SNV Uncertain significance 885171 15:49064868-49064868 15:48772671-48772671
17 CEP152 NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn) SNV Uncertain significance 885247 15:49085565-49085565 15:48793368-48793368
18 CEP152 NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala) SNV Uncertain significance 885879 15:49030841-49030841 15:48738644-48738644
19 CEP152 NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala) SNV Uncertain significance 885945 15:49037097-49037097 15:48744900-48744900
20 CEP152 NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp) SNV Uncertain significance 886006 15:49048576-49048576 15:48756379-48756379
21 CEP152 NM_001194998.2(CEP152):c.2826C>T (p.Asn942=) SNV Uncertain significance 755782 rs200733310 15:49048619-49048619 15:48756422-48756422
22 CEP152 NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile) SNV Uncertain significance 886140 15:49088260-49088260 15:48796063-48796063
23 CEP152 NM_001194998.2(CEP152):c.438T>A (p.Leu146=) SNV Uncertain significance 886141 15:49089600-49089600 15:48797403-48797403
24 CEP152 NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) SNV Uncertain significance 316419 rs886051262 15:49048544-49048544 15:48756347-48756347
25 CEP152 NM_001194998.2(CEP152):c.*73A>C SNV Uncertain significance 316406 rs886051259 15:49030373-49030373 15:48738176-48738176
26 CEP152 NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) SNV Uncertain significance 316408 rs776286310 15:49030594-49030594 15:48738397-48738397
27 CEP152 NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) SNV Uncertain significance 316422 rs199690309 15:49059638-49059638 15:48767441-48767441
28 CEP152 NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) SNV Uncertain significance 316411 rs886051260 15:49034222-49034222 15:48742025-48742025
29 CEP152 NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) SNV Uncertain significance 316430 rs201217824 15:49085583-49085583 15:48793386-48793386
30 CEP152 NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) SNV Uncertain significance 316415 rs200055660 15:49044579-49044579 15:48752382-48752382
31 CEP152 NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) SNV Uncertain significance 316416 rs200018103 15:49044634-49044634 15:48752437-48752437
32 CEP152 NM_014985.3(CEP152):c.-164T>C SNV Uncertain significance 316439 rs886051268 15:49103314-49103314 15:48811117-48811117
33 CEP152 NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) SNV Uncertain significance 316427 rs556609167 15:49083444-49083444 15:48791247-48791247
34 CEP152 NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) SNV Uncertain significance 316417 rs537168507 15:49048121-49048121 15:48755924-48755924
35 CEP152 NM_014985.3(CEP152):c.-130C>T SNV Uncertain significance 316438 rs548247909 15:49103280-49103280 15:48811083-48811083
36 CEP152 NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) SNV Uncertain significance 316424 rs776999918 15:49076233-49076233 15:48784036-48784036
37 CEP152 NM_001194998.2(CEP152):c.-10C>G SNV Uncertain significance 316434 rs886051266 15:49103160-49103160 15:48810963-48810963
38 CEP152 NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) SNV Uncertain significance 158242 rs149176738 15:49059275-49059275 15:48767078-48767078
39 CEP152 NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) SNV Uncertain significance 158253 rs74553953 15:49048132-49048132 15:48755935-48755935
40 CEP152 NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu) SNV Uncertain significance 316413 rs778040674 15:49036493-49036493 15:48744296-48744296
41 CEP152 NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) SNV Uncertain significance 316418 rs771359060 15:49048517-49048517 15:48756320-48756320
42 CEP152 NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) SNV Uncertain significance 316409 rs370000548 15:49031154-49031154 15:48738957-48738957
43 CEP152 NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe) SNV Uncertain significance 316426 rs886051265 15:49081018-49081018 15:48788821-48788821
44 CEP152 NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) SNV Uncertain significance 316431 rs200957146 15:49088254-49088254 15:48796057-48796057
45 CEP152 NM_001194998.2(CEP152):c.-105G>A SNV Uncertain significance 316437 rs886051267 15:49103255-49103255 15:48811058-48811058
46 CEP152 NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) SNV Uncertain significance 316421 rs886051263 15:49054627-49054627 15:48762430-48762430
47 CEP152 NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) SNV Uncertain significance 316429 rs199862615 15:49083481-49083481 15:48791284-48791284
48 CEP152 NM_001194998.2(CEP152):c.930A>T (p.Ala310=) SNV Uncertain significance 316428 rs779255588 15:49083476-49083476 15:48791279-48791279
49 CEP152 NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) SNV Uncertain significance 316412 rs199777941 15:49036492-49036492 15:48744295-48744295
50 CEP152 NM_001194998.2(CEP152):c.1578-6C>G SNV Uncertain significance 158230 rs80239443 15:49064894-49064894 15:48772697-48772697

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 8.92 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 CENPJ CEP152 CEP63 PCNT
2 cerebral cortex development GO:0021987 9.54 CDON MCPH1 TRAPPC9
3 centriole replication GO:0007099 9.33 CENPJ CEP152 CEP63
4 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.32 CEP152 CEP63
5 ciliary basal body-plasma membrane docking GO:0097711 9.26 CENPJ CEP152 CEP63 PCNT
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.92 CENPJ CEP152 CEP63 PCNT

Sources for Seckel Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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