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

Sources

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:

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 ⁷¹ C3151187

Sources

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.

Sources

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:

Sources

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)

Sources

Drugs & Therapeutics for Seckel Syndrome 5

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 5

Sources

Genetic Tests for Seckel Syndrome 5

Genetic tests related to Seckel Syndrome 5:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 5 ²⁹	CEP152

Sources

Anatomical Context for Seckel Syndrome 5

MalaCards organs/tissues related to Seckel Syndrome 5:

⁴⁰

Bone

Sources

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	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

Sources

Genes for Seckel Syndrome 5

Genes related to Seckel Syndrome 5 (2 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEP152	Centrosomal Protein 152	Protein Coding	1352.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21131973
2	CENPJ	Centromere Protein J	Protein Coding	414.13	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	RNF17	Ring Finger Protein 17	Protein Coding	7.07	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	6.05	DISEASES inferred ¹⁵
6	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	5.99	DISEASES inferred ¹⁵
7	EXOSC3	Exosome Component 3	Protein Coding	5.92	DISEASES inferred ¹⁵
8	PCNT	Pericentrin	Protein Coding	5.73	DISEASES inferred ¹⁵
9	MCPH1	Microcephalin 1	Protein Coding	5.72	DISEASES inferred ¹⁵
10	RNF166	Ring Finger Protein 166	Protein Coding	5.7	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	5.58	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Seckel Syndrome 5

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

Sources

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

Sources

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

Sources for Seckel Syndrome 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Seckel Syndrome 5 (SCKL5)

Aliases & Classifications for Seckel Syndrome 5

MalaCards integrated aliases for Seckel Syndrome 5:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 5

Related Diseases for Seckel Syndrome 5

Diseases in the Seckel Syndrome family:

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

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

Symptoms & Phenotypes for Seckel Syndrome 5

Human phenotypes related to Seckel Syndrome 5:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Seckel Syndrome 5

Genetic Tests for Seckel Syndrome 5

Genetic tests related to Seckel Syndrome 5:

Anatomical Context for Seckel Syndrome 5

MalaCards organs/tissues related to Seckel Syndrome 5:

Publications for Seckel Syndrome 5

Articles related to Seckel Syndrome 5:

Genes for Seckel Syndrome 5

Genes related to Seckel Syndrome 5 (2 elite genes):

Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

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

Expression for Seckel Syndrome 5

Pathways for Seckel Syndrome 5

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

GO Terms for Seckel Syndrome 5

Cellular components related to Seckel Syndrome 5 according to GeneCards Suite gene sharing:

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

Sources for Seckel Syndrome 5