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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Sckl5 ⁵⁷ ¹² ⁷⁵

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 Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613823

Disease Ontology ¹² DOID:0070012

MedGen ⁴² C3151187

MeSH ⁴⁴ D004392 D008831

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 27272007 more

UMLS ⁷³ 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 microcephaly. An important gene associated with Seckel Syndrome 5 is CEP152 (Centrosomal Protein 152), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include bone, and related phenotypes are high palate and intellectual disability

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Disease Ontology : ¹² 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:

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome 4	9.2	CENPJ RNF17
2	microcephaly	8.9	CENPJ CEP152
3	seckel syndrome	8.6	CENPJ CEP152 RNF17

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Symptoms & Phenotypes for Seckel Syndrome 5

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:
delayed bone age (in some patients)

Genitourinary External Genitalia Female:
clitoromegaly (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

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

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

Skeletal Feet:
pes planus (in some patients)

Clinical features from OMIM:

613823

Human phenotypes related to Seckel Syndrome 5:

³² (show all 22)

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

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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

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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	1327.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21131973 20301772
2	CENPJ	Centromere Protein J	Protein Coding	417.42	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301772
3	RNF17	Ring Finger Protein 17	Protein Coding	7.42	GeneCards inferred via : Variants (show sections)

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Variations for Seckel Syndrome 5

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

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CEP152	p.Lys667Arg	VAR_065258	rs200879436

ClinVar genetic disease variations for Seckel Syndrome 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CEP152	NM_001194998.1(CEP152): c.261+1G> C	single nucleotide variant	Pathogenic	rs966888627	GRCh37	Chromosome 15, 49089857: 49089857
2	CEP152	NM_001194998.1(CEP152): c.261+1G> C	single nucleotide variant	Pathogenic	rs966888627	GRCh38	Chromosome 15, 48797660: 48797660
3	CEP152	NM_001194998.1(CEP152): c.2694+1G> T	single nucleotide variant	Pathogenic		GRCh38	Chromosome 15, 48760134: 48760134
4	CEP152	NM_001194998.1(CEP152): c.2694+1G> T	single nucleotide variant	Pathogenic		GRCh37	Chromosome 15, 49052331: 49052331
5	CEP152	NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182018947	GRCh37	Chromosome 15, 49059645: 49059645
6	CEP152	NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182018947	GRCh38	Chromosome 15, 48767448: 48767448
7	CENPJ	NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs)	deletion	Pathogenic	rs1060499557	GRCh37	Chromosome 13, 25457393: 25457396
8	CENPJ	NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs)	deletion	Pathogenic	rs1060499557	GRCh38	Chromosome 13, 24883255: 24883258

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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	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	11.35	CENPJ CEP152

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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	CENPJ CEP152
2	microtubule organizing center	GO:0005815	8.96	CENPJ CEP152
3	centriole	GO:0005814	8.62	CENPJ CEP152

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

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	CENPJ CEP152

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Sources for Seckel Syndrome 5

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⁷⁶ Wikipedia