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

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
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 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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070012

OMIM ⁵⁶ 613823

OMIM Phenotypic Series ⁵⁶ PS210600

MeSH ⁴³ D004392 D008831

MedGen ⁴¹ C3151187

SNOMED-CT via HPO ⁶⁸ 123983008 128602000 203534009 more

UMLS ⁷¹ C3151187

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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.

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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 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:

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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	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

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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

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 ⁵⁶	Kalay E...Wollnik B	21131973	2011
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶ ⁶¹	Verloes A...Passemard S	20301772	2009

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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	PubmedIds
1	CEP152	Centrosomal Protein 152	Protein Coding	1327.48	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301772 21131973
2	CENPJ	Centromere Protein J	Protein Coding	414.15	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301772
3	RNF17	Ring Finger Protein 17	Protein Coding	7.18	GeneCards inferred via : Variants (show sections)
4	CEP63	Centrosomal Protein 63	Protein Coding	6.19	DISEASES inferred ¹⁵
5	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	6.02	DISEASES inferred ¹⁵
6	EXOSC3	Exosome Component 3	Protein Coding	5.98	DISEASES inferred ¹⁵
7	MCPH1	Microcephalin 1	Protein Coding	5.76	DISEASES inferred ¹⁵
8	RNF166	Ring Finger Protein 166	Protein Coding	5.74	DISEASES inferred ¹⁵
9	TCP10L3	T-Complex 10 Like 3, Pseudogene	Pseudogene	5.64	DISEASES inferred ¹⁵
10	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	5.59	DISEASES inferred ¹⁵
11	PCNT	Pericentrin	Protein Coding	5.55	DISEASES inferred ¹⁵
12	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.54	DISEASES inferred ¹⁵
13	CNTN1	Contactin 1	Protein Coding	5.46	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 107) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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	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>C	SNV	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>C	SNV	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>G	SNV	Uncertain significance	316434	rs886051266	15:49103160-49103160	15:48810963-48810963
34	CEP152	NM_001194998.2(CEP152):c.*73A>C	SNV	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>G	SNV	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>A	SNV	Uncertain significance	886821		15:49030395-49030395	15:48738198-48738198
42	CEP152	NM_001194998.2(CEP152):c.*33A>G	SNV	Uncertain significance	886822		15:49030413-49030413	15:48738216-48738216
43	CEP152	NM_001194998.2(CEP152):c.*7T>C	SNV	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

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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	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

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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:

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

Sources for Seckel Syndrome 5