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 Mental diseases Smell/Taste 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 seckel syndrome 1. An important gene associated with Seckel Syndrome 5 is CEP152 (Centrosomal Protein 152). Affiliated tissues include bone, and related phenotypes are high palate and intellectual disability

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 : 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.

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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	9.9	CENPJ RNF17
2	seckel syndrome 1	9.9	CENPJ CEP152
3	seckel syndrome 2	9.9	CENPJ CEP152
4	microcephaly 3, primary, autosomal recessive	9.9	CENPJ CEP152
5	microcephaly 17, primary, autosomal recessive	9.8	CENPJ CEP152
6	microcephaly 6, primary, autosomal recessive	9.8	CENPJ CEP152
7	microcephaly 4, primary, autosomal recessive	9.8	CENPJ CEP152
8	microcephaly 12, primary, autosomal recessive	9.8	CENPJ CEP152
9	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.8	CENPJ CEP152
10	microcephaly 5, primary, autosomal recessive	9.8	CENPJ CEP152
11	microcephaly 7, primary, autosomal recessive	9.8	CENPJ CEP152
12	primary autosomal recessive microcephaly	9.8	CENPJ CEP152
13	microcephaly 18, primary, autosomal dominant	9.8	CENPJ CEP152
14	congenital nervous system abnormality	9.7	CENPJ CEP152
15	seckel syndrome	9.7	CENPJ CEP152 RNF17
16	primary microcephaly	9.6	CENPJ CEP152

Graphical network of the top 20 diseases related to Seckel Syndrome 5:

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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

Genitourinary Internal Genitalia Male:
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 23)

#	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	selective tooth agenesis ³²		HP:0001592
22	abnormal cortical gyration ³²		HP:0002536
23	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	1327.66	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	417.34	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301772
3	RNF17	Ring Finger Protein 17	Protein Coding	7.34	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 (show all 16)

#	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_001194998.1(CEP152): c.4378_4379delGT (p.Val1460Phefs)	deletion	Likely benign	rs141600901	GRCh38	Chromosome 15, 48739003: 48739004
6	CEP152	NM_001194998.1(CEP152): c.4378_4379delGT (p.Val1460Phefs)	deletion	Likely benign	rs141600901	GRCh37	Chromosome 15, 49031200: 49031201
7	CEP152	NM_014985.3(CEP152): c.2000A> G (p.Lys667Arg)	single nucleotide variant	Likely benign	rs200879436	GRCh37	Chromosome 15, 49060434: 49060434
8	CEP152	NM_014985.3(CEP152): c.2000A> G (p.Lys667Arg)	single nucleotide variant	Likely benign	rs200879436	GRCh38	Chromosome 15, 48768237: 48768237
9	CEP152	NM_014985.3(CEP152): c.2878T> C (p.Trp960Arg)	single nucleotide variant	Uncertain significance	rs201342438	GRCh37	Chromosome 15, 49048567: 49048567
10	CEP152	NM_014985.3(CEP152): c.2878T> C (p.Trp960Arg)	single nucleotide variant	Uncertain significance	rs201342438	GRCh38	Chromosome 15, 48756370: 48756370
11	CEP152	NM_014985.3(CEP152): c.2777A> T (p.Glu926Val)	single nucleotide variant	Uncertain significance	rs117557829	GRCh37	Chromosome 15, 49048668: 49048668
12	CEP152	NM_014985.3(CEP152): c.2777A> T (p.Glu926Val)	single nucleotide variant	Uncertain significance	rs117557829	GRCh38	Chromosome 15, 48756471: 48756471
13	CEP152	NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182018947	GRCh37	Chromosome 15, 49059645: 49059645
14	CEP152	NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182018947	GRCh38	Chromosome 15, 48767448: 48767448
15	CENPJ	NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs)	deletion	Pathogenic	rs1060499557	GRCh37	Chromosome 13, 25457393: 25457396
16	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

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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	centriole replication	GO:0007099	8.96	CENPJ CEP152
5	centrosome duplication	GO:0051298	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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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Seckel Syndrome 5:

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

Genes for Seckel Syndrome 5

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

Variations for Seckel Syndrome 5

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

ClinVar 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