Seckel Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Seckel Syndrome 2

MalaCards integrated aliases for Seckel Syndrome 2:

Name: Seckel Syndrome 2 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Microcephalic Primordial Dwarfism 2 ⁵⁷ ¹² ⁷²

Seckel-Type Dwarfism 2 ⁵⁷ ¹² ⁷²

Sckl2 ⁵⁷ ¹² ⁷²

Seckel Syndrome, Type 2 ³⁹

Bird-Headed Dwarfism 2 ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

HPO:

³¹

seckel syndrome 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070013

OMIM® ⁵⁷ 606744

OMIM Phenotypic Series ⁵⁷ PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴¹ C1847572

UMLS ⁷⁰ C1847572

Sources

Summaries for Seckel Syndrome 2

OMIM® : ⁵⁷ Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (606744) (Updated 20-May-2021)

MalaCards based summary : Seckel Syndrome 2, also known as microcephalic primordial dwarfism 2, is related to dwarfism and microcephaly 14, primary, autosomal recessive. An important gene associated with Seckel Syndrome 2 is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include eye, cerebellum and heart, and related phenotypes are ectopic kidney and high pitched voice

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11.

UniProtKB/Swiss-Prot : ⁷² Seckel syndrome 2: 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 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	dwarfism	30.6	PCNT DNA2
2	microcephaly 14, primary, autosomal recessive	10.1	CEP152 CENPJ
3	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6	10.1	RBBP8 DNA2
4	microcephaly 10, primary, autosomal recessive	10.1	CEP152 CENPJ
5	seckel syndrome 8	10.0	RBBP8 DNA2 CEP152
6	mosaic variegated aneuploidy syndrome	10.0	PCNT CNTLN CEP152
7	microcephaly 11, primary, autosomal recessive	9.9	MCPH1 CEP152 CENPJ
8	microcephaly 13, primary, autosomal recessive	9.9	MCPH1 CEP152
9	microcephaly 18, primary, autosomal dominant	9.9	MCPH1 CEP152 CENPJ
10	microcephaly 1, primary, autosomal recessive	9.9	MCPH1 CEP152 CENPJ
11	band heterotopia	9.7	MCPH1 CENPJ CDK5RAP2
12	periventricular nodular heterotopia	9.7	MCPH1 CENPJ CDK5RAP2
13	meckel syndrome, type 1	9.7	PCNT CNTLN CEP152
14	miller-dieker lissencephaly syndrome	9.7	RFC2 MCPH1 CDK5RAP2
15	microcephaly 8, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
16	microcephaly 12, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
17	microcephaly 9, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
18	microcephaly 17, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
19	microcephaly 3, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
20	microcephaly 7, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
21	microcephaly 4, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
22	microcephaly 5, primary, autosomal recessive	9.7	MCPH1 CEP152 CENPJ CDK5RAP2
23	seckel syndrome 5	9.7	RBBP8 PCNT MCPH1 CEP152 CENPJ
24	primary microcephaly	9.6	MCPH1 CEP152 CENPJ CDK5RAP2
25	autosomal recessive non-syndromic intellectual disability	9.6	MCPH1 CEP152 CDK5RAP2
26	joubert syndrome 1	9.5	PCNT CNTLN CEP152 CENPJ CDK5RAP2
27	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.5	MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
28	microcephaly 6, primary, autosomal recessive	9.5	MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
29	isolated growth hormone deficiency	9.4	PCNT DNA2 CNTLN CEP152 CENPJ CDK5RAP2
30	microcephalic osteodysplastic primordial dwarfism, type ii	9.3	PCNT MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
31	congenital nervous system abnormality	9.3	PCNT MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
32	physical disorder	9.3	PCNT MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
33	primary autosomal recessive microcephaly	9.2	RBBP8 PCNT MCPH1 CNTLN CEP152 CENPJ
34	microcephaly	9.2	RBBP8 PCNT MCPH1 DNA2 CEP152 CENPJ
35	isolated growth hormone deficiency, type ia	9.0	RBBP8 PCNT MCPH1 DNA2 CNTLN CEP152
36	seckel syndrome 4	9.0	RFC2 RBBP8 PCNT MCPH1 CNTLN CEP152
37	seckel syndrome 1	8.7	RFC2 RBBP8 PCNT MNAT1 MCPH1 CNTLN
38	seckel syndrome	8.7	RFC2 RBBP8 PCNT MCPH1 DNA2 CNTLN

Graphical network of the top 20 diseases related to Seckel Syndrome 2:

Sources

Symptoms & Phenotypes for Seckel Syndrome 2

Human phenotypes related to Seckel Syndrome 2:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	ectopic kidney ³¹	occasional (7.5%)	HP:0000086
2	high pitched voice ³¹	very rare (1%)	HP:0001620
3	microcephaly ³¹		HP:0000252
4	short stature ³¹		HP:0004322
5	microdontia ³¹		HP:0000691
6	growth delay ³¹		HP:0001510
7	micrognathia ³¹		HP:0000347
8	clinodactyly of the 5th finger ³¹		HP:0004209
9	microphthalmia ³¹		HP:0000568
10	hypospadias ³¹		HP:0000047
11	cerebellar hypoplasia ³¹		HP:0001321
12	mild global developmental delay ³¹		HP:0011342
13	prominent nose ³¹		HP:0000448
14	small for gestational age ³¹		HP:0001518
15	microglossia ³¹		HP:0000171
16	narrow forehead ³¹		HP:0000341
17	heart murmur ³¹		HP:0030148
18	few cafe-au-lait spots ³¹		HP:0007429

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Head:
microcephaly
micrognathia

Head And Neck Eyes:
microphthalmia

Head And Neck Nose:
prominent nose

Cardiovascular Heart:
heart murmur

Voice:
high-pitched voice

Skin Nails Hair Skin:
cafe au lait spots

Growth Height:
proportionate short stature at birth

Genitourinary External Genitalia Male:
mild hypospadias

Skeletal Hands:
swelling over proximal part of middle phalanx of second, third, and fourth fingers
clinodactyly of fifth finger
absence of epiphyseal ossification centers of distal and middle phalangeal bones of fifth finger
synostosis of distal interphalangeal joint of fifth finger

Skeletal Skull:
microcephaly
short anterior cranial base
short maxillary length

Neurologic Central Nervous System:
mild global developmental delay
mild cerebellar hypoplasia
bilateral calcification of basal ganglia and cerebellum

Head And Neck Mouth:
microglossia

Head And Neck Teeth:
small teeth

Growth Weight:
low birth weight
underweight

Skeletal Limbs:
slender extremities

Growth Other:
persistent growth deficiency

Genitourinary Kidneys:
ectopic kidneys (rare)

Clinical features from OMIM®:

606744 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.17	MCPH1
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.17	MCPH1 MNAT1
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.17	DNA2 MCPH1 RBBP8 RFC2

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Drugs & Therapeutics for Seckel Syndrome 2

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 2

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Genetic Tests for Seckel Syndrome 2

Genetic tests related to Seckel Syndrome 2:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 2 ²⁹	RBBP8

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Anatomical Context for Seckel Syndrome 2

MalaCards organs/tissues related to Seckel Syndrome 2:

⁴⁰

Eye, Cerebellum, Heart, Kidney

Sources

Publications for Seckel Syndrome 2

Articles related to Seckel Syndrome 2:

#	Title	Authors	PMID	Year
1	Genomic analysis of primordial dwarfism reveals novel disease genes. ⁶ ⁵⁷	Shaheen R...Alkuraya FS	24389050	2014
2	A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. ⁵⁷ ⁶	Borglum AD...Hertz JM	11781686	2001
3	CtIP Mutations Cause Seckel and Jawad Syndromes. ⁶¹ ⁵⁷	Qvist P...Borglum AD	21998596	2011
4	A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. ⁶¹	Agha Z...van Bokhoven H	24440292	2014
5	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	Verloes A...Passemard S	20301772	2009
6	Is the novel SCKL3 at 14q23 the predominant Seckel locus? ⁶¹	Kilinc MO...Tolun A	14571270	2003

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Genes for Seckel Syndrome 2

Genes related to Seckel Syndrome 2 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	1332.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	11781686
2	CEP152	Centrosomal Protein 152	Protein Coding	6.87	DISEASES inferred ¹⁵
3	CENPJ	Centromere Protein J	Protein Coding	6.44	DISEASES inferred ¹⁵
4	PCNT	Pericentrin	Protein Coding	6.08	DISEASES inferred ¹⁵
5	CNTLN	Centlein	Protein Coding	5.97	DISEASES inferred ¹⁵
6	MNAT1	MNAT1 Component Of CDK Activating Kinase	Protein Coding	5.94	DISEASES inferred ¹⁵
7	DNA2	DNA Replication Helicase/Nuclease 2	Protein Coding	5.62	DISEASES inferred ¹⁵
8	RFC2	Replication Factor C Subunit 2	Protein Coding	5.58	DISEASES inferred ¹⁵
9	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	5.55	DISEASES inferred ¹⁵
10	KLHL15	Kelch Like Family Member 15	Protein Coding	5.52	DISEASES inferred ¹⁵
11	EXD2	Exonuclease 3'-5' Domain Containing 2	Protein Coding	5.51	DISEASES inferred ¹⁵
12	MCPH1	Microcephalin 1	Protein Coding	5.45	DISEASES inferred ¹⁵

Sources

Variations for Seckel Syndrome 2

ClinVar genetic disease variations for Seckel Syndrome 2:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RBBP8	NM_002894.3(RBBP8):c.2287+53T>G	SNV	Pathogenic	30408	rs587776883	GRCh37: 18:20581745-20581745 GRCh38: 18:23001782-23001782
2	RBBP8	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	SNV	Pathogenic	127245	rs373804633	GRCh37: 18:20548818-20548818 GRCh38: 18:22968855-22968855
3	RBBP8	NM_002894.3(RBBP8):c.604+1G>T	SNV	Pathogenic	130101	rs587780432	GRCh37: 18:20562357-20562357 GRCh38: 18:22982394-22982394

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 2:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	RBBP8	p.Arg100Trp	VAR_075824	rs373804633

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Expression for Seckel Syndrome 2

Search GEO for disease gene expression data for Seckel Syndrome 2.

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Pathways for Seckel Syndrome 2

Pathways related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.54	PCNT MNAT1 CEP152 CENPJ CDK5RAP2
2	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	12.44	RFC2 RBBP8 PCNT MNAT1 MCPH1 DNA2
3	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.28	PCNT CEP152 CENPJ CDK5RAP2
4	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	12.17	RFC2 RBBP8 MNAT1 DNA2 CENPJ
5	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	11.79	RFC2 RBBP8 DNA2

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GO Terms for Seckel Syndrome 2

Cellular components related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.97	RFC2 RBBP8 MNAT1 MCPH1 DNA2 CNTLN
2	cytoskeleton	GO:0005856	9.73	PCNT MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
3	centrosome	GO:0005813	9.55	PCNT CNTLN CEP152 CENPJ CDK5RAP2
4	microtubule organizing center	GO:0005815	9.35	PCNT MCPH1 CEP152 CENPJ CDK5RAP2
5	pericentriolar material	GO:0000242	9.32	CEP152 CDK5RAP2
6	centriole	GO:0005814	8.92	PCNT CNTLN CEP152 CENPJ

Biological processes related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA repair	GO:0006281	9.77	RFC2 RBBP8 MNAT1 EXD2 DNA2
2	DNA replication	GO:0006260	9.63	RFC2 RBBP8 DNA2
3	regulation of signal transduction by p53 class mediator	GO:1901796	9.61	RFC2 RBBP8 DNA2
4	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.58	RBBP8 EXD2 DNA2
5	ciliary basal body-plasma membrane docking	GO:0097711	9.56	PCNT CEP152 CENPJ CDK5RAP2
6	centriole replication	GO:0007099	9.5	CEP152 CENPJ CDK5RAP2
7	establishment of mitotic spindle orientation	GO:0000132	9.49	MCPH1 CDK5RAP2
8	telomere maintenance via semi-conservative replication	GO:0032201	9.48	RFC2 DNA2
9	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.46	PCNT CEP152 CENPJ CDK5RAP2
10	DNA double-strand break processing	GO:0000729	9.13	RBBP8 EXD2 DNA2
11	G2/M transition of mitotic cell cycle	GO:0000086	9.02	PCNT MNAT1 CEP152 CENPJ CDK5RAP2

Molecular functions related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	9.46	CNTLN CEP152 CENPJ CDK5RAP2
2	gamma-tubulin binding	GO:0043015	9.26	CENPJ CDK5RAP2
3	nuclease activity	GO:0004518	9.13	RBBP8 EXD2 DNA2
4	single-stranded DNA-dependent ATP-dependent DNA helicase activity	GO:0017116	8.62	RFC2 DNA2

Sources

Sources for Seckel Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Seckel Syndrome 2 (SCKL2)

Aliases & Classifications for Seckel Syndrome 2

MalaCards integrated aliases for Seckel Syndrome 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 2

Related Diseases for Seckel Syndrome 2

Diseases in the Seckel Syndrome family:

Diseases related to Seckel Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Seckel Syndrome 2:

Symptoms & Phenotypes for Seckel Syndrome 2

Human phenotypes related to Seckel Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Seckel Syndrome 2

Genetic Tests for Seckel Syndrome 2

Genetic tests related to Seckel Syndrome 2:

Anatomical Context for Seckel Syndrome 2

MalaCards organs/tissues related to Seckel Syndrome 2:

Publications for Seckel Syndrome 2

Articles related to Seckel Syndrome 2:

Genes for Seckel Syndrome 2

Genes related to Seckel Syndrome 2 (1 elite genes):

Variations for Seckel Syndrome 2

ClinVar genetic disease variations for Seckel Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 2:

Expression for Seckel Syndrome 2

Pathways for Seckel Syndrome 2

Pathways related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Seckel Syndrome 2

Cellular components related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Seckel Syndrome 2