SCKL5
MCID: SCK011
MIFTS: 37

Seckel Syndrome 5 (SCKL5)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Seckel Syndrome 5

MalaCards integrated aliases for Seckel Syndrome 5:

Name: Seckel Syndrome 5 57 11 73 28 5 14 71
Sckl5 57 11 73
Seckel Syndrome, Type 5 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0070012
OMIM® 57 613823
OMIM Phenotypic Series 57 PS210600
MedGen 40 C3151187
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Seckel Syndrome 5, also known as sckl5, is related to seckel syndrome and isolated growth hormone deficiency, type ia. 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

UniProtKB/Swiss-Prot: 73 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 intellectual disability.

Disease Ontology: 11 A Seckel syndrome that has material basis in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.

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 37)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 30.0 MCPH1 CEP152 CENPJ
2 isolated growth hormone deficiency, type ia 29.6 PROP1 MCPH1 CEP152 CENPJ
3 microcephaly 29.5 TRAPPC9 MCPH1 EXOSC3 CEP152 CENPJ
4 microcephaly 16, primary, autosomal recessive 10.2 CEP152 CENPJ
5 microcephaly 6, primary, autosomal recessive 10.1 RNF17 CEP152 CENPJ
6 microlissencephaly 10.1 CEP152 CENPJ
7 lissencephaly 2 10.1 CEP152 CENPJ
8 microcephaly 11, primary, autosomal recessive 10.0 MCPH1 CENPJ
9 microcephaly 14, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
10 microcephaly 17, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
11 microcephaly 12, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
12 microcephaly 10, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
13 microcephaly 9, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
14 microcephaly 13, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
15 microcephaly 18, primary, autosomal dominant 10.0 MCPH1 CEP152 CENPJ
16 seckel syndrome 2 10.0 MCPH1 CEP152 CENPJ
17 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 MCPH1 CEP152 CENPJ
18 isolated growth hormone deficiency 10.0 PROP1 CEP152 CENPJ
19 seckel syndrome 4 10.0 RNF17 MCPH1 CENPJ
20 microcephaly 5, primary, autosomal recessive 10.0 MCPH1 CEP152 CENPJ
21 pallister-hall syndrome 10.0
22 seckel syndrome 1 10.0
23 pallister-hall-like syndrome 10.0
24 central precocious puberty 10.0
25 precocious puberty 10.0
26 epiphysiolysis of the hip 10.0
27 autosomal recessive intellectual developmental disorder 9.9 TRAPPC9 MCPH1 CEP152
28 primary microcephaly 9.9 MCPH1 CEP152 CENPJ
29 miller-dieker lissencephaly syndrome 9.9 MCPH1 CENPJ
30 physical disorder 9.9 MCPH1 CEP152 CENPJ
31 band heterotopia 9.8 MCPH1 CENPJ
32 primary autosomal recessive microcephaly 9.8 TRAPPC9 MCPH1 CEP152 CENPJ
33 meier-gorlin syndrome 1 9.7 CEP152 CENPJ ASPH
34 myopathy, congenital, compton-north 9.7 TRAPPC9 CNTN1 CEP152 CDON
35 generalized epilepsy with febrile seizures plus, type 9 9.5 TRAPPC9 RNF166 CNTN1 CEP152 CDON
36 congenital nervous system abnormality 9.3 TRAPPC9 PROP1 MCPH1 EXOSC3 CEP152 CENPJ
37 microcephaly 1, primary, autosomal recessive 9.2 PROP1 NNT MCPH1 EXOSC3 CENPJ ASPH

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:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 30 Occasional (7.5%) HP:0002750
2 pes planus 30 Occasional (7.5%) HP:0001763
3 strabismus 30 Occasional (7.5%) HP:0000486
4 cryptorchidism 30 Occasional (7.5%) HP:0000028
5 downslanted palpebral fissures 30 Occasional (7.5%) HP:0000494
6 blepharophimosis 30 Occasional (7.5%) HP:0000581
7 11 pairs of ribs 30 Occasional (7.5%) HP:0000878
8 clitoral hypertrophy 30 Occasional (7.5%) HP:0008665
9 intellectual disability 30 HP:0001249
10 high palate 30 HP:0000218
11 microcephaly 30 HP:0000252
12 short stature 30 HP:0004322
13 retrognathia 30 HP:0000278
14 micrognathia 30 HP:0000347
15 clinodactyly of the 5th finger 30 HP:0004209
16 prominent nasal bridge 30 HP:0000426
17 hypodontia 30 HP:0000668
18 convex nasal ridge 30 HP:0000444
19 sloping forehead 30 HP:0000340
20 abnormal cortical gyration 30 HP:0002536
21 oligodontia 30 HP:0000677
22 large beaked nose 30 HP:0003683
23 selective tooth agenesis 30 HP:0001592

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Seckel Syndrome 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.23 CDON CENPJ CEP152 CNTN1 DSCAML1 MCPH1

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 28 CEP152

Anatomical Context for Seckel Syndrome 5

Organs/tissues related to Seckel Syndrome 5:

MalaCards : 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 5
21131973 2011
2
Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5. 62
35798296 2022
3
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301772 2009

Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

5 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP152 NM_001194998.2(CEP152):c.261+1G>C SNV Pathogenic
31030 rs966888627 GRCh37: 15:49089857-49089857
GRCh38: 15:48797660-48797660
2 CEP152 NM_001194998.2(CEP152):c.2694+1G>T SNV Pathogenic
31032 rs1349385657 GRCh37: 15:49052331-49052331
GRCh38: 15:48760134-48760134
3 CENPJ, RNF17 NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) DEL Pathogenic
403711 rs1060499557 GRCh37: 13:25457393-25457396
GRCh38: 13:24883255-24883258
4 CEP152 NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) DEL Pathogenic
1676669 GRCh37: 15:49059643-49059645
GRCh38: 15:48767446-48767448
5 CEP152 NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) SNV Pathogenic
1676670 GRCh37: 15:49031443-49031443
GRCh38: 15:48739246-48739246
6 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
158240 rs182018947 GRCh37: 15:49059645-49059645
GRCh38: 15:48767448-48767448
7 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) SNV Pathogenic
55 rs267606717 GRCh37: 15:49085556-49085556
GRCh38: 15:48793359-48793359
8 CEP152 NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) DEL Pathogenic
31033 rs141600901 GRCh37: 15:49031200-49031201
GRCh38: 15:48739003-48739004
9 CEP152 NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) SNV Pathogenic
31034 rs200879436 GRCh37: 15:49060434-49060434
GRCh38: 15:48768237-48768237
10 CEP152 NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter) SNV Likely Pathogenic
930905 rs1897359016 GRCh37: 15:49089510-49089510
GRCh38: 15:48797313-48797313
11 CEP152 NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter) SNV Likely Pathogenic
931704 rs995036419 GRCh37: 15:49089695-49089695
GRCh38: 15:48797498-48797498
12 CEP152 NM_001194998.2(CEP152):c.972+2T>A SNV Likely Pathogenic
1324053 GRCh37: 15:49083432-49083432
GRCh38: 15:48791235-48791235
13 CEP152 NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
95651 rs201342438 GRCh37: 15:49048567-49048567
GRCh38: 15:48756370-48756370
14 CEP152 NM_014985.3(CEP152):c.-164T>C SNV Uncertain Significance
316439 rs886051268 GRCh37: 15:49103314-49103314
GRCh38: 15:48811117-48811117
15 CEP152 NM_014985.3(CEP152):c.-130C>T SNV Uncertain Significance
316438 rs548247909 GRCh37: 15:49103280-49103280
GRCh38: 15:48811083-48811083
16 CEP152 NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=) SNV Uncertain Significance
884969 rs182367234 GRCh37: 15:49030707-49030707
GRCh38: 15:48738510-48738510
17 CEP152 NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) SNV Uncertain Significance
316412 rs199777941 GRCh37: 15:49036492-49036492
GRCh38: 15:48744295-48744295
18 CEP152 NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) SNV Uncertain Significance
316422 rs199690309 GRCh37: 15:49059638-49059638
GRCh38: 15:48767441-48767441
19 CEP152 NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) SNV Uncertain Significance
316430 rs201217824 GRCh37: 15:49085583-49085583
GRCh38: 15:48793386-48793386
20 CEP152 NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala) SNV Uncertain Significance
885879 rs200883218 GRCh37: 15:49030841-49030841
GRCh38: 15:48738644-48738644
21 CEP152 NM_001194998.2(CEP152):c.2826C>T (p.Asn942=) SNV Uncertain Significance
755782 rs200733310 GRCh37: 15:49048619-49048619
GRCh38: 15:48756422-48756422
22 CEP152 NM_001194998.2(CEP152):c.438T>A (p.Leu146=) SNV Uncertain Significance
886141 rs369129204 GRCh37: 15:49089600-49089600
GRCh38: 15:48797403-48797403
23 CEP152 NM_001194998.2(CEP152):c.4320T>C (p.His1440=) SNV Uncertain Significance
886873 rs372379014 GRCh37: 15:49031259-49031259
GRCh38: 15:48739062-48739062
24 CEP152 NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu) SNV Uncertain Significance
781990 rs199917740 GRCh37: 15:49044618-49044618
GRCh38: 15:48752421-48752421
25 CEP152 NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln) SNV Uncertain Significance
388204 rs201942310 GRCh37: 15:49081189-49081189
GRCh38: 15:48788992-48788992
26 CEP152 NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) SNV Uncertain Significance
158253 rs74553953 GRCh37: 15:49048132-49048132
GRCh38: 15:48755935-48755935
27 CEP152 NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) SNV Uncertain Significance
316407 rs771595097 GRCh37: 15:49030571-49030571
GRCh38: 15:48738374-48738374
28 CEP152 NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala) SNV Uncertain Significance
885945 rs773013405 GRCh37: 15:49037097-49037097
GRCh38: 15:48744900-48744900
29 CEP152 NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp) SNV Uncertain Significance
886006 rs145813772 GRCh37: 15:49048576-49048576
GRCh38: 15:48756379-48756379
30 CEP152 NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile) SNV Uncertain Significance
886140 rs749959761 GRCh37: 15:49088260-49088260
GRCh38: 15:48796063-48796063
31 CEP152 NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=) SNV Uncertain Significance
158256 rs138151279 GRCh37: 15:49044583-49044583
GRCh38: 15:48752386-48752386
32 CEP152 NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn) SNV Uncertain Significance
158226 rs200227733 GRCh37: 15:49090203-49090203
GRCh38: 15:48798006-48798006
33 CEP152 NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) SNV Uncertain Significance
522976 rs537556482 GRCh37: 15:49030895-49030895
GRCh38: 15:48738698-48738698
34 CEP152 NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) SNV Uncertain Significance
158242 rs149176738 GRCh37: 15:49059275-49059275
GRCh38: 15:48767078-48767078
35 CEP152 NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) SNV Uncertain Significance
316431 rs200957146 GRCh37: 15:49088254-49088254
GRCh38: 15:48796057-48796057
36 CEP152 NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) SNV Uncertain Significance
316429 rs199862615 GRCh37: 15:49083481-49083481
GRCh38: 15:48791284-48791284
37 CEP152 NM_001194998.2(CEP152):c.930A>T (p.Ala310=) SNV Uncertain Significance
316428 rs779255588 GRCh37: 15:49083476-49083476
GRCh38: 15:48791279-48791279
38 CEP152 NM_001194998.2(CEP152):c.1578-6C>G SNV Uncertain Significance
158230 rs80239443 GRCh37: 15:49064894-49064894
GRCh38: 15:48772697-48772697
39 CEP152 NM_001194998.2(CEP152):c.1185C>T (p.Cys395=) SNV Uncertain Significance
316425 rs377258492 GRCh37: 15:49076306-49076306
GRCh38: 15:48784109-48784109
40 CEP152 NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) SNV Uncertain Significance
316433 rs374200686 GRCh37: 15:49097843-49097843
GRCh38: 15:48805646-48805646
41 CEP152 NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) SNV Uncertain Significance
316410 rs186930123 GRCh37: 15:49031404-49031404
GRCh38: 15:48739207-48739207
42 CEP152 NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met) SNV Uncertain Significance
884968 rs909160279 GRCh37: 15:49030645-49030645
GRCh38: 15:48738448-48738448
43 CEP152 NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His) SNV Uncertain Significance
885034 rs750366915 GRCh37: 15:49036472-49036472
GRCh38: 15:48744275-48744275
44 CEP152 NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) SNV Uncertain Significance
885097 rs1042361244 GRCh37: 15:49048506-49048506
GRCh38: 15:48756309-48756309
45 CEP152 NM_001194998.2(CEP152):c.1650A>G (p.Val550=) SNV Uncertain Significance
885170 rs370925576 GRCh37: 15:49064816-49064816
GRCh38: 15:48772619-48772619
46 CEP152 NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) SNV Uncertain Significance
885171 rs374376744 GRCh37: 15:49064868-49064868
GRCh38: 15:48772671-48772671
47 CEP152 NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn) SNV Uncertain Significance
885247 rs1897106202 GRCh37: 15:49085565-49085565
GRCh38: 15:48793368-48793368
48 CEP152 NM_001194998.2(CEP152):c.*51G>A SNV Uncertain Significance
886821 rs531632293 GRCh37: 15:49030395-49030395
GRCh38: 15:48738198-48738198
49 CEP152 NM_001194998.2(CEP152):c.*33A>G SNV Uncertain Significance
886822 rs766414465 GRCh37: 15:49030413-49030413
GRCh38: 15:48738216-48738216
50 CEP152 NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) SNV Uncertain Significance
886872 rs200366079 GRCh37: 15:49030963-49030963
GRCh38: 15:48738766-48738766

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

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 procentriole replication complex GO:0120099 8.92 CEP152 CENPJ

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

# Name GO ID Score Top Affiliating Genes
1 centriole replication GO:0007099 9.46 CEP152 CENPJ
2 centrosome duplication GO:0051298 9.13 CEP152 CENPJ
3 cerebral cortex development GO:0021987 9.1 TRAPPC9 MCPH1 CDON

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion mediator activity GO:0098632 8.92 DSCAML1 CNTN1

Sources for Seckel Syndrome 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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