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 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Microcephalic Primordial Dwarfism 2 ⁵⁸ ¹² ⁷⁶

Seckel-Type Dwarfism 2 ⁵⁸ ¹² ⁷⁶

Sckl2 ⁵⁸ ¹² ⁷⁶

Seckel Syndrome, Type 2 ⁴¹

Bird-Headed Dwarfism 2 ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

seckel syndrome 2:
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:0070013

OMIM ⁵⁸ 606744

MeSH ⁴⁵ D004392 D008831

MedGen ⁴³ C1847572

UMLS ⁷⁴ C1847572

Sources

Summaries for Seckel Syndrome 2

OMIM : ⁵⁸ 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)

MalaCards based summary : Seckel Syndrome 2, also known as microcephalic primordial dwarfism 2, is related to seckel syndrome and dwarfism. An important gene associated with Seckel Syndrome 2 is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of TP53 Activity. Affiliated tissues include kidney, bone and cerebellum, 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 : ⁷⁶ 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 18)

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome	29.4	ATR CENPJ CEP152 RBBP8
2	dwarfism	10.1
3	seckel syndrome 5	10.0	CENPJ CEP152
4	microcephaly 3, primary, autosomal recessive	10.0	CENPJ CEP152
5	microcephaly 17, primary, autosomal recessive	10.0	CENPJ CEP152
6	microcephaly 6, primary, autosomal recessive	10.0	CENPJ CEP152
7	microcephaly 4, primary, autosomal recessive	10.0	CENPJ CEP152
8	microcephaly 12, primary, autosomal recessive	10.0	CENPJ CEP152
9	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.9	CENPJ CEP152
10	microcephaly 5, primary, autosomal recessive	9.9	CENPJ CEP152
11	microcephaly 7, primary, autosomal recessive	9.9	CENPJ CEP152
12	primary autosomal recessive microcephaly	9.9	CENPJ CEP152
13	meier-gorlin syndrome 1	9.9	ATR CEP152
14	microcephaly 18, primary, autosomal dominant	9.9	CENPJ CEP152
15	congenital nervous system abnormality	9.8	CENPJ CEP152
16	primary microcephaly	9.7	CENPJ CEP152
17	microcephaly	9.5	ATR CENPJ CEP152 RBBP8
18	seckel syndrome 1	9.2	ATR CENPJ CEP152 MNAT1 RBBP8

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

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Symptoms & Phenotypes for Seckel Syndrome 2

Human phenotypes related to Seckel Syndrome 2:

³³ (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	ectopic kidney ³³	occasional (7.5%)	HP:0000086
2	high pitched voice ³³	very rare (1%)	HP:0001620
3	microcephaly ³³		HP:0000252
4	micrognathia ³³		HP:0000347
5	microdontia ³³		HP:0000691
6	growth delay ³³		HP:0001510
7	cerebellar hypoplasia ³³		HP:0001321
8	microphthalmia ³³		HP:0000568
9	hypospadias ³³		HP:0000047
10	clinodactyly of the 5th finger ³³		HP:0004209
11	mild global developmental delay ³³		HP:0011342
12	prominent nose ³³		HP:0000448
13	small for gestational age ³³		HP:0001518
14	microglossia ³³		HP:0000171
15	heart murmur ³³		HP:0030148
16	narrow forehead ³³		HP:0000341
17	few cafe-au-lait spots ³³		HP:0007429

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	8.8	ATR MNAT1 RBBP8

MGI Mouse Phenotypes related to Seckel Syndrome 2:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.35	ATR CENPJ CEP152 MNAT1 RBBP8
2	nervous system	MP:0003631	9.02	ATR CENPJ CEP152 MNAT1 NRXN1

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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 ³⁰	RBBP8

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Anatomical Context for Seckel Syndrome 2

MalaCards organs/tissues related to Seckel Syndrome 2:

⁴²

Kidney, Bone, Cerebellum

Sources

Publications for Seckel Syndrome 2

Articles related to Seckel Syndrome 2:

#	Title	Authors	Year
1	Seckel's syndrome or bird-headed dwarfism (2 cases reports). ( 751929 )	Bai PV...Charles SX	1978

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Genes for Seckel Syndrome 2

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	1343.66	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	11781686 21998596 20301772 (more) 24389050
2	CEP152	Centrosomal Protein 152	Protein Coding	17.09	DISEASES inferred ¹⁵
3	MNAT1	MNAT1 Component Of CDK Activating Kinase	Protein Coding	16.59	DISEASES inferred ¹⁵
4	CENPJ	Centromere Protein J	Protein Coding	16.42	DISEASES inferred ¹⁵
5	NRXN1	Neurexin 1	Protein Coding	15.72	DISEASES inferred ¹⁵
6	ATR	ATR Serine/Threonine Kinase	Protein Coding	15.23	DISEASES inferred ¹⁵

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Variations for Seckel Syndrome 2

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

⁷⁶

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

ClinVar genetic disease variations for Seckel Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RBBP8	NM_002894.2(RBBP8): c.2287+53T> G	single nucleotide variant	Pathogenic	rs587776883	GRCh38	Chromosome 18, 23001782: 23001782
2	RBBP8	NM_002894.2(RBBP8): c.2287+53T> G	single nucleotide variant	Pathogenic	rs587776883	GRCh37	Chromosome 18, 20581745: 20581745
3	RBBP8	NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp)	single nucleotide variant	Pathogenic	rs373804633	GRCh38	Chromosome 18, 22968855: 22968855
4	RBBP8	NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp)	single nucleotide variant	Pathogenic	rs373804633	GRCh37	Chromosome 18, 20548818: 20548818
5	RBBP8	NM_002894.2(RBBP8): c.604+1G> T	single nucleotide variant	Pathogenic	rs587780432	GRCh38	Chromosome 18, 22982394: 22982394
6	RBBP8	NM_002894.2(RBBP8): c.604+1G> T	single nucleotide variant	Pathogenic	rs587780432	GRCh37	Chromosome 18, 20562357: 20562357

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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	Cell Cycle, Mitotic ⁶⁷ Show member pathways Cell Cycle ⁶⁷ M Phase ⁶⁷	12.18	ATR CENPJ CEP152 MNAT1 RBBP8
2	Regulation of TP53 Activity ⁶⁷ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁷ Regulation of TP53 Activity through Methylation ⁶⁷ Regulation of TP53 Activity through Phosphorylation ⁶⁷ Transcriptional Regulation by TP53 ⁶⁷	12.08	ATR CENPJ MNAT1 RBBP8
3	BRCA1 Pathway ⁶⁵ Show member pathways Fanconi's Anaemia Pathway ⁶⁵	11.24	ATR RBBP8
4	ATM Signaling Network in Development and Disease ¹	10.92	ATR RBBP8
5	BARD1 signaling events ¹	10.62	ATR RBBP8

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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	9.02	ATR CENPJ CEP152 MNAT1 RBBP8
2	centriole	GO:0005814	8.96	CENPJ CEP152

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

#	Name	GO ID	Score	Top Affiliating Genes
1	G2/M transition of mitotic cell cycle	GO:0000086	9.43	CENPJ CEP152
2	DNA repair	GO:0006281	9.43	ATR MNAT1 RBBP8
3	ciliary basal body-plasma membrane docking	GO:0097711	9.4	CENPJ CEP152
4	G1/S transition of mitotic cell cycle	GO:0000082	9.37	MNAT1 RBBP8
5	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.32	CENPJ CEP152
6	nucleotide-excision repair	GO:0006289	9.16	MNAT1 RBBP8
7	centriole replication	GO:0007099	8.96	CENPJ CEP152
8	centrosome duplication	GO:0051298	8.62	CENPJ CEP152

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Sources for Seckel Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

MGI Mouse Phenotypes related to Seckel Syndrome 2:

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

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

ClinVar 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:

Sources for Seckel Syndrome 2