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 ¹² ⁷⁴ ²⁹ ¹³ ⁶ ⁷²

Sckl5 ⁵⁷ ¹² ⁷⁴

Seckel Syndrome, Type 5 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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 ⁵⁷ 613823 PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴² C3151187

UMLS ⁷² 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)

MalaCards based summary : Seckel Syndrome 5, also known as sckl5, is related to seckel syndrome 4 and seckel syndrome 1. 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

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 : ⁷⁴ 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 16)

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome 4	9.8	RNF17 CENPJ
2	seckel syndrome 1	9.7	CEP152 CENPJ
3	seckel syndrome 2	9.6	CEP152 CENPJ
4	microcephaly 3, primary, autosomal recessive	9.6	CEP152 CENPJ
5	microcephaly 17, primary, autosomal recessive	9.6	CEP152 CENPJ
6	microcephaly 6, primary, autosomal recessive	9.6	CEP152 CENPJ
7	microcephaly 4, primary, autosomal recessive	9.6	CEP152 CENPJ
8	microcephaly 12, primary, autosomal recessive	9.6	CEP152 CENPJ
9	microcephaly 5, primary, autosomal recessive	9.5	CEP152 CENPJ
10	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.5	CEP152 CENPJ
11	microcephaly 7, primary, autosomal recessive	9.5	CEP152 CENPJ
12	primary autosomal recessive microcephaly	9.4	CEP152 CENPJ
13	microcephaly 18, primary, autosomal dominant	9.4	CEP152 CENPJ
14	congenital nervous system abnormality	9.3	CEP152 CENPJ
15	seckel syndrome	9.2	RNF17 CEP152 CENPJ
16	primary microcephaly	9.1	CEP152 CENPJ

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:

³² (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	delayed skeletal maturation ³²	occasional (7.5%)	HP:0002750
2	pes planus ³²	occasional (7.5%)	HP:0001763
3	strabismus ³²	occasional (7.5%)	HP:0000486
4	cryptorchidism ³²	occasional (7.5%)	HP:0000028
5	downslanted palpebral fissures ³²	occasional (7.5%)	HP:0000494
6	blepharophimosis ³²	occasional (7.5%)	HP:0000581
7	11 pairs of ribs ³²	occasional (7.5%)	HP:0000878
8	clitoral hypertrophy ³²	occasional (7.5%)	HP:0008665
9	high palate ³²		HP:0000218
10	intellectual disability ³²		HP:0001249
11	microcephaly ³²		HP:0000252
12	short stature ³²		HP:0004322
13	micrognathia ³²		HP:0000347
14	retrognathia ³²		HP:0000278
15	prominent nasal bridge ³²		HP:0000426
16	clinodactyly of the 5th finger ³²		HP:0004209
17	hypodontia ³²		HP:0000668
18	convex nasal ridge ³²		HP:0000444
19	sloping forehead ³²		HP:0000340
20	abnormal cortical gyration ³²		HP:0002536
21	oligodontia ³²		HP:0000677
22	large beaked nose ³²		HP:0003683
23	selective tooth agenesis ³²		HP:0001592

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
retrognathia
sloping forehead

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)

Growth Height:
short stature

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:

⁴¹

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. ⁸ ⁷¹	Kalay E...Wollnik B	21131973	2011
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders ³⁸ ⁷¹	Verloes A...Passemard S	20301772	2009

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Genes for Seckel Syndrome 5

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CEP152	Centrosomal Protein 152	Protein Coding	1327.76	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20301772 21131973
2	CENPJ	Centromere Protein J	Protein Coding	417.32	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301772
3	RNF17	Ring Finger Protein 17	Protein Coding	7.32	GeneCards inferred via : Variants (show sections)

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Variations for Seckel Syndrome 5

ClinVar genetic disease variations for Seckel Syndrome 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	CEP152	NM_001194998.2(CEP152): c.261+1G> C	single nucleotide variant	Pathogenic	rs966888627	15:49089857-49089857	15:48797660-48797660
2	CEP152	NM_001194998.2(CEP152): c.2694+1G> T	single nucleotide variant	Pathogenic	rs1349385657	15:49052331-49052331	15:48760134-48760134
3	CENPJ	NM_018451.5(CENPJ): c.3936_3939del (p.His1313fs)	deletion	Pathogenic	rs1060499557	13:25457393-25457396	13:24883255-24883258
4	CEP152	NM_001194998.2(CEP152): c.794A> C (p.Gln265Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267606717	15:49085556-49085556	15:48793359-48793359
5	CEP152	NM_001194998.2(CEP152): c.2034T> G (p.Tyr678Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182018947	15:49059645-49059645	15:48767448-48767448
6	CEP152	NM_001194998.2(CEP152): c.2777A> T (p.Glu926Val)	single nucleotide variant	Uncertain significance	rs117557829	15:49048668-49048668	15:48756471-48756471
7	CEP152	NM_001194998.2(CEP152): c.2878T> C (p.Trp960Arg)	single nucleotide variant	Uncertain significance	rs201342438	15:49048567-49048567	15:48756370-48756370
8	CEP152	NM_001194998.2(CEP152): c.4378_4379del (p.Val1460fs)	deletion	Likely benign	rs141600901	15:49031200-49031201	15:48739003-48739004
9	CEP152	NM_001194998.2(CEP152): c.2000A> G (p.Lys667Arg)	single nucleotide variant	Likely benign	rs200879436	15:49060434-49060434	15:48768237-48768237

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

⁷⁴

#	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	centrosome	GO:0005813	9.16	CEP152 CENPJ
2	microtubule organizing center	GO:0005815	8.96	CEP152 CENPJ
3	centriole	GO:0005814	8.62	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	9.32	CEP152 CENPJ
2	ciliary basal body-plasma membrane docking	GO:0097711	9.26	CEP152 CENPJ
3	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.16	CEP152 CENPJ
4	centriole replication	GO:0007099	8.96	CEP152 CENPJ
5	centrosome duplication	GO:0051298	8.62	CEP152 CENPJ

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	8.62	CEP152 CENPJ

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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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

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