Seckel Syndrome 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Seckel Syndrome 5

MalaCards integrated aliases for Seckel Syndrome 5:

Name: Seckel Syndrome 5 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Sckl5 ⁵⁷ ¹² ⁷²

Seckel Syndrome, Type 5 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

HPO:

³¹

seckel syndrome 5:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases Eye diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070012

OMIM® ⁵⁷ 613823

OMIM Phenotypic Series ⁵⁷ PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴¹ C3151187

SNOMED-CT via HPO ⁶⁸ 123983008 128602000 203534009 more

UMLS ⁷⁰ C3151187

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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 20-May-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 eye and 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 : ⁷² 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.

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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 35)

#	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	microcephaly 8, primary, autosomal recessive	10.1	MCPH1 CEP152 CENPJ
5	microcephaly 12, primary, autosomal recessive	10.1	MCPH1 CEP152 CENPJ
6	microcephaly 11, primary, autosomal recessive	10.1	MCPH1 CEP152 CENPJ
7	microcephaly 9, primary, autosomal recessive	10.1	MCPH1 CEP152 CENPJ
8	microcephaly 17, primary, autosomal recessive	10.1	MCPH1 CEP152 CENPJ
9	microcephaly 4, primary, autosomal recessive	10.1	MCPH1 CEP152 CENPJ
10	microcephaly 18, primary, autosomal dominant	10.1	MCPH1 CEP152 CENPJ
11	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	10.1	MCPH1 CEP152 CENPJ
12	mosaic variegated aneuploidy syndrome	10.0	PCNT CEP63 CEP152
13	microcephaly 13, primary, autosomal recessive	10.0	MCPH1 CEP152
14	microcephaly 3, primary, autosomal recessive	10.0	MCPH1 CEP63 CEP152 CENPJ
15	microcephaly 7, primary, autosomal recessive	10.0	MCPH1 CEP63 CEP152 CENPJ
16	microcephaly 6, primary, autosomal recessive	10.0	RNF17 MCPH1 CEP152 CENPJ
17	seckel syndrome 8	10.0	RBBP8 CWH43 CEP152
18	microcephaly 5, primary, autosomal recessive	10.0	MCPH1 CEP63 CEP152 CENPJ
19	primary microcephaly	9.9	MCPH1 CEP63 CEP152 CENPJ
20	physical disorder	9.9	PCNT MCPH1 CEP152 CENPJ
21	microcephalic osteodysplastic primordial dwarfism, type ii	9.8	PCNT MCPH1 CEP63 CEP152 CENPJ
22	seckel syndrome 2	9.8	RBBP8 PCNT MCPH1 CEP152 CENPJ
23	seckel syndrome 1	9.8	RBBP8 PCNT MCPH1 CEP152 CENPJ
24	isolated growth hormone deficiency	9.7	PROP1 PCNT CEP63 CEP152 CENPJ
25	isolated growth hormone deficiency, type ia	9.7	RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
26	myopathy, congenital, compton-north	9.6	TRAPPC9 RNF166 CNTN1 CEP152
27	joubert syndrome 1	9.6	PCNT CEP63 CEP152 CENPJ
28	congenital nervous system abnormality	9.6	PCNT MCPH1 CEP63 CEP152 CENPJ CDON
29	autosomal recessive non-syndromic intellectual disability	9.6	TRAPPC9 RNF166 MCPH1 CEP152 CDON
30	seckel syndrome	9.6	RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
31	primary autosomal recessive microcephaly	9.5	RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
32	generalized epilepsy with febrile seizures plus, type 9	9.4	TRAPPC9 RNF166 CNTN1 CEP152 CDON
33	microcephaly 1, primary, autosomal recessive	9.4	PROP1 NNT MCPH1 EXOSC3 CEP152 CENPJ
34	seckel syndrome 4	9.2	TCP10L3 RNF17 RBBP8 PCNT MCPH1 CWH43
35	microcephaly	9.2	TRAPPC9 RBBP8 PCNT MCPH1 EXOSC3 CEP63

Graphical network of the top 20 diseases related to Seckel Syndrome 5:

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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 20-May-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 20-May-2021)

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Drugs & Therapeutics for Seckel Syndrome 5

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 5

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Genetic Tests for Seckel Syndrome 5

Genetic tests related to Seckel Syndrome 5:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 5 ²⁹	CEP152

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Anatomical Context for Seckel Syndrome 5

MalaCards organs/tissues related to Seckel Syndrome 5:

⁴⁰

Eye, Bone

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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 ⁵⁷	Kalay E...Wollnik B	21131973	2011
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	Verloes A...Passemard S	20301772	2009

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Genes for Seckel Syndrome 5

Genes related to Seckel Syndrome 5 (3 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEP152	Centrosomal Protein 152	Protein Coding	1352.01	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21131973
2	CENPJ	Centromere Protein J	Protein Coding	414.02	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	RNF17	Ring Finger Protein 17	Protein Coding	406.97	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	CEP63	Centrosomal Protein 63	Protein Coding	6.16	DISEASES inferred ¹⁵
5	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	6.04	DISEASES inferred ¹⁵
6	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	5.98	DISEASES inferred ¹⁵
7	EXOSC3	Exosome Component 3	Protein Coding	5.92	DISEASES inferred ¹⁵
8	PCNT	Pericentrin	Protein Coding	5.72	DISEASES inferred ¹⁵
9	MCPH1	Microcephalin 1	Protein Coding	5.72	DISEASES inferred ¹⁵
10	RNF166	Ring Finger Protein 166	Protein Coding	5.68	DISEASES inferred ¹⁵
11	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.62	DISEASES inferred ¹⁵
12	TCP10L3	T-Complex 10 Like 3, Pseudogene	Pseudogene	5.61	DISEASES inferred ¹⁵
13	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	5.57	DISEASES inferred ¹⁵
14	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	5.43	DISEASES inferred ¹⁵
15	CNTN1	Contactin 1	Protein Coding	5.42	DISEASES inferred ¹⁵
16	CWH43	Cell Wall Biogenesis 43 C-Terminal Homolog	Protein Coding	5.36	DISEASES inferred ¹⁵

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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	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	CEP152	NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)	Deletion	Pathogenic	31033	rs141600901	GRCh37: 15:49031200-49031201 GRCh38: 15:48739003-48739004
4	CEP152	NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)	SNV	Pathogenic	31034	rs200879436	GRCh37: 15:49060434-49060434 GRCh38: 15:48768237-48768237
5	CENPJ , RNF17	NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)	Deletion	Pathogenic	403711	rs1060499557	GRCh37: 13:25457393-25457396 GRCh38: 13:24883255-24883258
6	CEP152	NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	SNV	Pathogenic	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.528G>A (p.Trp176Ter)	SNV	Likely pathogenic	930905		GRCh37: 15:49089510-49089510 GRCh38: 15:48797313-48797313
9	CEP152	NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)	SNV	Likely pathogenic	931704		GRCh37: 15:49089695-49089695 GRCh38: 15:48797498-48797498
10	CEP152	NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	SNV	Conflicting interpretations of pathogenicity	158240	rs182018947	GRCh37: 15:49059645-49059645 GRCh38: 15:48767448-48767448
11	CEP152	NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met)	SNV	Uncertain significance	884968		GRCh37: 15:49030645-49030645 GRCh38: 15:48738448-48738448
12	CEP152	NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=)	SNV	Uncertain significance	884969		GRCh37: 15:49030707-49030707 GRCh38: 15:48738510-48738510
13	CEP152	NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His)	SNV	Uncertain significance	885034		GRCh37: 15:49036472-49036472 GRCh38: 15:48744275-48744275
14	CEP152	NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln)	SNV	Uncertain significance	885097		GRCh37: 15:49048506-49048506 GRCh38: 15:48756309-48756309
15	CEP152	NM_001194998.2(CEP152):c.1650A>G (p.Val550=)	SNV	Uncertain significance	885170		GRCh37: 15:49064816-49064816 GRCh38: 15:48772619-48772619
16	CEP152	NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln)	SNV	Uncertain significance	885171		GRCh37: 15:49064868-49064868 GRCh38: 15:48772671-48772671
17	CEP152	NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn)	SNV	Uncertain significance	885247		GRCh37: 15:49085565-49085565 GRCh38: 15:48793368-48793368
18	CEP152	NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala)	SNV	Uncertain significance	885879		GRCh37: 15:49030841-49030841 GRCh38: 15:48738644-48738644
19	CEP152	NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala)	SNV	Uncertain significance	885945		GRCh37: 15:49037097-49037097 GRCh38: 15:48744900-48744900
20	CEP152	NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp)	SNV	Uncertain significance	886006		GRCh37: 15:49048576-49048576 GRCh38: 15:48756379-48756379
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.638C>T (p.Thr213Ile)	SNV	Uncertain significance	886140		GRCh37: 15:49088260-49088260 GRCh38: 15:48796063-48796063
23	CEP152	NM_001194998.2(CEP152):c.438T>A (p.Leu146=)	SNV	Uncertain significance	886141		GRCh37: 15:49089600-49089600 GRCh38: 15:48797403-48797403
24	CEP152	NM_001194998.2(CEP152):c.2901A>G (p.Glu967=)	SNV	Uncertain significance	316419	rs886051262	GRCh37: 15:49048544-49048544 GRCh38: 15:48756347-48756347
25	CEP152	NM_001194998.2(CEP152):c.*73A>C	SNV	Uncertain significance	316406	rs886051259	GRCh37: 15:49030373-49030373 GRCh38: 15:48738176-48738176
26	CEP152	NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg)	SNV	Uncertain significance	316408	rs776286310	GRCh37: 15:49030594-49030594 GRCh38: 15:48738397-48738397
27	CEP152	NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr)	SNV	Uncertain significance	316422	rs199690309	GRCh37: 15:49059638-49059638 GRCh38: 15:48767441-48767441
28	CEP152	NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His)	SNV	Uncertain significance	316411	rs886051260	GRCh37: 15:49034222-49034222 GRCh38: 15:48742025-48742025
29	CEP152	NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)	SNV	Uncertain significance	316430	rs201217824	GRCh37: 15:49085583-49085583 GRCh38: 15:48793386-48793386
30	CEP152	NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr)	SNV	Uncertain significance	316415	rs200055660	GRCh37: 15:49044579-49044579 GRCh38: 15:48752382-48752382
31	CEP152	NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=)	SNV	Uncertain significance	316416	rs200018103	GRCh37: 15:49044634-49044634 GRCh38: 15:48752437-48752437
32	CEP152	NM_014985.3(CEP152):c.-164T>C	SNV	Uncertain significance	316439	rs886051268	GRCh37: 15:49103314-49103314 GRCh38: 15:48811117-48811117
33	CEP152	NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser)	SNV	Uncertain significance	316427	rs556609167	GRCh37: 15:49083444-49083444 GRCh38: 15:48791247-48791247
34	CEP152	NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=)	SNV	Uncertain significance	316417	rs537168507	GRCh37: 15:49048121-49048121 GRCh38: 15:48755924-48755924
35	CEP152	NM_014985.3(CEP152):c.-130C>T	SNV	Uncertain significance	316438	rs548247909	GRCh37: 15:49103280-49103280 GRCh38: 15:48811083-48811083
36	CEP152	NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe)	SNV	Uncertain significance	316424	rs776999918	GRCh37: 15:49076233-49076233 GRCh38: 15:48784036-48784036
37	CEP152	NM_001194998.2(CEP152):c.-10C>G	SNV	Uncertain significance	316434	rs886051266	GRCh37: 15:49103160-49103160 GRCh38: 15:48810963-48810963
38	CEP152	NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)	SNV	Uncertain significance	158242	rs149176738	GRCh37: 15:49059275-49059275 GRCh38: 15:48767078-48767078
39	CEP152	NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)	SNV	Uncertain significance	158253	rs74553953	GRCh37: 15:49048132-49048132 GRCh38: 15:48755935-48755935
40	CEP152	NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu)	SNV	Uncertain significance	316413	rs778040674	GRCh37: 15:49036493-49036493 GRCh38: 15:48744296-48744296
41	CEP152	NM_001194998.2(CEP152):c.2928G>A (p.Glu976=)	SNV	Uncertain significance	316418	rs771359060	GRCh37: 15:49048517-49048517 GRCh38: 15:48756320-48756320
42	CEP152	NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=)	SNV	Uncertain significance	316409	rs370000548	GRCh37: 15:49031154-49031154 GRCh38: 15:48738957-48738957
43	CEP152	NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe)	SNV	Uncertain significance	316426	rs886051265	GRCh37: 15:49081018-49081018 GRCh38: 15:48788821-48788821
44	CEP152	NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)	SNV	Uncertain significance	316431	rs200957146	GRCh37: 15:49088254-49088254 GRCh38: 15:48796057-48796057
45	CEP152	NM_001194998.2(CEP152):c.-105G>A	SNV	Uncertain significance	316437	rs886051267	GRCh37: 15:49103255-49103255 GRCh38: 15:48811058-48811058
46	CEP152	NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met)	SNV	Uncertain significance	316421	rs886051263	GRCh37: 15:49054627-49054627 GRCh38: 15:48762430-48762430
47	CEP152	NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)	SNV	Uncertain significance	316429	rs199862615	GRCh37: 15:49083481-49083481 GRCh38: 15:48791284-48791284
48	CEP152	NM_001194998.2(CEP152):c.930A>T (p.Ala310=)	SNV	Uncertain significance	316428	rs779255588	GRCh37: 15:49083476-49083476 GRCh38: 15:48791279-48791279
49	CEP152	NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=)	SNV	Uncertain significance	316412	rs199777941	GRCh37: 15:49036492-49036492 GRCh38: 15:48744295-48744295
50	CEP152	NM_001194998.2(CEP152):c.1578-6C>G	SNV	Uncertain significance	158230	rs80239443	GRCh37: 15:49064894-49064894 GRCh38: 15:48772697-48772697

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

⁷²

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

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Expression for Seckel Syndrome 5

Search GEO for disease gene expression data for Seckel Syndrome 5.

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Pathways for Seckel Syndrome 5

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	12.26	RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	11.98	PCNT CEP63 CEP152 CENPJ
3	ATM Signaling Network in Development and Disease ¹	10.82	RBBP8 CEP63

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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	9.46	PCNT CEP63 CEP152 CENPJ
2	microtubule organizing center	GO:0005815	9.35	PCNT MCPH1 CEP63 CEP152 CENPJ
3	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	PCNT CEP63 CEP152 CENPJ
2	cerebral cortex development	GO:0021987	9.54	TRAPPC9 MCPH1 CDON
3	centriole replication	GO:0007099	9.33	CEP63 CEP152 CENPJ
4	de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	GO:0098535	9.32	CEP63 CEP152
5	ciliary basal body-plasma membrane docking	GO:0097711	9.26	PCNT CEP63 CEP152 CENPJ
6	regulation of G2/M transition of mitotic cell cycle	GO:0010389	8.92	PCNT CEP63 CEP152 CENPJ

Sources

Sources for Seckel Syndrome 5

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Seckel Syndrome 5 (SCKL5)

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