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 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 Bone diseases Mental 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 microcephaly 18, primary, autosomal dominant and seckel syndrome 6. 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 31)

#	Related Disease	Score	Top Affiliating Genes
1	microcephaly 18, primary, autosomal dominant	10.2	CEP152 CENPJ
2	seckel syndrome 6	10.2	CEP63 CEP152
3	microcephaly 9, primary, autosomal recessive	10.1	CEP152 CENPJ
4	microcephaly 8, primary, autosomal recessive	10.1	MCPH1 CEP152
5	seckel syndrome 8	10.0	RBBP8 CEP152
6	microcephaly 17, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
7	microcephaly 6, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
8	microcephaly 12, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
9	microcephaly 7, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
10	microcephaly 4, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
11	microcephaly 11, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
12	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	10.0	MCPH1 CEP152 CENPJ
13	microcephaly 5, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
14	microcephaly 15, primary, autosomal recessive	10.0	MCPH1 CEP152 CENPJ
15	physical disorder	9.9	MCPH1 CEP152 CENPJ
16	myopathy, congenital, compton-north	9.8	RNF166 CNTN1 CEP152
17	microcephaly 3, primary, autosomal recessive	9.8	MCPH1 CEP63 CEP152 CENPJ
18	autosomal recessive non-syndromic intellectual disability	9.5	RNF166 MCPH1 CEP152
19	microcephaly 1, primary, autosomal recessive	9.5	NNT MCPH1 EXOSC3 CEP152 CENPJ
20	seckel syndrome 2	9.5	RBBP8 PCNT CEP152 CENPJ
21	seckel syndrome 1	9.5	RBBP8 PCNT CEP152 CENPJ
22	microcephaly	9.3	RBBP8 MCPH1 EXOSC3 CEP63 CEP152 CENPJ
23	meier-gorlin syndrome 1	9.2	RBBP8 PCNT CEP63 CEP152 CENPJ
24	microcephalic osteodysplastic primordial dwarfism, type ii	9.2	PCNT MCPH1 CEP63 CEP152 CENPJ
25	joubert syndrome 1	9.1	PCNT MCPH1 CEP152 CENPJ
26	primary microcephaly	9.0	RNF17 PCNT MCPH1 CEP63 CEP152 CENPJ
27	isolated growth hormone deficiency, type ia	9.0	RBBP8 PCNT MCPH1 CEP63 CEP152 CENPJ
28	congenital nervous system abnormality	8.8	PCNT MCPH1 CEP63 CEP152 CENPJ CDON
29	seckel syndrome	8.8	RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
30	primary autosomal recessive microcephaly	8.7	RNF17 RBBP8 PCNT MCPH1 CEP63 CEP152
31	seckel syndrome 4	8.5	TCP10 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	cryptorchidism ³¹	occasional (7.5%)	HP:0000028
4	downslanted palpebral fissures ³¹	occasional (7.5%)	HP:0000494
5	strabismus ³¹	occasional (7.5%)	HP:0000486
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	short stature ³¹		HP:0004322
12	micrognathia ³¹		HP:0000347
13	microcephaly ³¹		HP:0000252
14	sloping forehead ³¹		HP:0000340
15	retrognathia ³¹		HP:0000278
16	prominent nasal bridge ³¹		HP:0000426
17	clinodactyly of the 5th finger ³¹		HP:0004209
18	hypodontia ³¹		HP:0000668
19	convex nasal ridge ³¹		HP:0000444
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

Growth Height:
short stature

Head And Neck Head:
microcephaly

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 Feet:
pes planus (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs (in some patients)

Head And Neck Face:
micrognathia
sloping forehead
retrognathia

Head And Neck Teeth:
hypodontia
oligodontia
enamel hypoplasia (in some patients) selective tooth agenesis

Skeletal Hands:
fifth finger clinodactyly

Neurologic Central Nervous System:
mental retardation
simplified gyri

Genitourinary Internal Genitalia Male:
cryptorchidism (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. ⁵⁶ ⁶	Kalay E...Wollnik B	21131973	2011
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders ⁶¹ ⁶	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	1325.92	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21131973 20301772
2	CENPJ	Centromere Protein J	Protein Coding	414.33	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301772
3	RNF17	Ring Finger Protein 17	Protein Coding	7.33	GeneCards inferred via : Variants (show sections)
4	CEP63	Centrosomal Protein 63	Protein Coding	6.23	DISEASES inferred ¹⁵
5	EXOSC3	Exosome Component 3	Protein Coding	6.03	DISEASES inferred ¹⁵
6	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	6.02	DISEASES inferred ¹⁵
7	RNF166	Ring Finger Protein 166	Protein Coding	5.77	DISEASES inferred ¹⁵
8	MCPH1	Microcephalin 1	Protein Coding	5.74	DISEASES inferred ¹⁵
9	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	5.64	DISEASES inferred ¹⁵
10	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.59	DISEASES inferred ¹⁵
11	TCP10	T-Complex 10	Pseudogene	5.55	DISEASES inferred ¹⁵
12	PCNT	Pericentrin	Protein Coding	5.55	DISEASES inferred ¹⁵
13	CNTN1	Contactin 1	Protein Coding	5.49	DISEASES inferred ¹⁵

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Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.2878T>C (p.Trp960Arg)	SNV	Conflicting interpretations of pathogenicity	95651	rs201342438	15:49048567-49048567	15:48756370-48756370
6	CEP152	NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)	SNV	Conflicting interpretations of pathogenicity	158246	rs117557829	15:49048668-49048668	15:48756471-48756471
7	CEP152	NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	SNV	Conflicting interpretations of pathogenicity	158240	rs182018947	15:49059645-49059645	15:48767448-48767448
8	CEP152	NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)	deletion	Benign/Likely benign	31033	rs141600901	15:49031200-49031201	15:48739003-48739004
9	CEP152	NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)	SNV	Benign/Likely benign	31034	rs200879436	15:49060434-49060434	15:48768237-48768237

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	TCP10 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	TCP10 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	TCP10 RBBP8 CENPJ

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Sources for Seckel Syndrome 5

¹ BioSystems

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

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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