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

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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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0070012

OMIM® ⁵⁷ 613823

OMIM Phenotypic Series ⁵⁷ PS210600

MeSH ⁴³ D004392 D008831

MedGen ⁴⁰ C3151187

SNOMED-CT via HPO ⁶⁹ 123983008 128602000 203534009 more

UMLS ⁷¹ 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 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.

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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 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:

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Symptoms & Phenotypes for Seckel Syndrome 5

Human phenotypes related to Seckel Syndrome 5:

³⁰ (show all 23)

#	Description	HPO 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

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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 ²⁸	CEP152

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Anatomical Context for Seckel Syndrome 5

Organs/tissues related to Seckel Syndrome 5:

MalaCards : 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. ⁵⁷ ⁵	Kalay E...Wollnik B	21131973	2011
2	Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5. ⁶²	Park J...Lee J	35798296	2022
3	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	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 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEP152	Centrosomal Protein 152	Protein Coding	1339.32	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	21131973
2	CENPJ	Centromere Protein J	Protein Coding	400	Pathogenic ⁵
3	RNF17	Ring Finger Protein 17	Protein Coding	400	Pathogenic ⁵
4	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	5.93	DISEASES inferred ¹⁴
5	EXOSC3	Exosome Component 3	Protein Coding	5.87	DISEASES inferred ¹⁴
6	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.45	DISEASES inferred ¹⁴
7	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	5.43	DISEASES inferred ¹⁴
8	MCPH1	Microcephalin 1	Protein Coding	5.4	DISEASES inferred ¹⁴
9	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	5.4	DISEASES inferred ¹⁴
10	RNF166	Ring Finger Protein 166	Protein Coding	5.31	DISEASES inferred ¹⁴
11	CNTN1	Contactin 1	Protein Coding	5.27	DISEASES inferred ¹⁴
12	ASPH	Aspartate Beta-Hydroxylase	Protein Coding	5.26	DISEASES inferred ¹⁴
13	DSCAML1	DS Cell Adhesion Molecule Like 1	Protein Coding	5	DISEASES inferred ¹⁴

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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

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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

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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	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

Sources for Seckel Syndrome 5

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

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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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Seckel Syndrome 5 (SCKL5)

Aliases & Classifications for Seckel Syndrome 5

MalaCards integrated aliases for Seckel Syndrome 5:

Characteristics:

Inheritance:

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®:

MGI Mouse Phenotypes related to Seckel Syndrome 5:

Drugs & Therapeutics for Seckel Syndrome 5

Genetic Tests for Seckel Syndrome 5

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Anatomical Context for Seckel Syndrome 5

Organs/tissues related to Seckel Syndrome 5:

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Articles related to Seckel Syndrome 5:

Genes for Seckel Syndrome 5

Genes related to Seckel Syndrome 5 (3 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

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