Seckel Syndrome 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Seckel Syndrome 8

MalaCards integrated aliases for Seckel Syndrome 8:

Name: Seckel Syndrome 8 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶ ⁷⁴

Sckl8 ⁵⁸ ¹² ⁷⁶

Seckel Syndrome, Type 8 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 individuals in 1 consanguineous family (last curated may 2014)

HPO:

³³

seckel syndrome 8:
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:

Disease Ontology ¹² DOID:0070009

OMIM ⁵⁸ 615807

MeSH ⁴⁵ D004392 D008831

MedGen ⁴³ C3891452 CN188187

SNOMED-CT via HPO ⁷⁰ 16507009 224958001 228156007 more

UMLS ⁷⁴ C3891452

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Summaries for Seckel Syndrome 8

OMIM : ⁵⁸ Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (615807)

MalaCards based summary : Seckel Syndrome 8, is also known as sckl8. An important gene associated with Seckel Syndrome 8 is DNA2 (DNA Replication Helicase/Nuclease 2). Affiliated tissues include spinal cord, kidney and bone, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous mutation in the DNA2 gene on chromosome 10q21.

UniProtKB/Swiss-Prot : ⁷⁶ Seckel syndrome 8: 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 8

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

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Symptoms & Phenotypes for Seckel Syndrome 8

Human phenotypes related to Seckel Syndrome 8:

³³ (show all 9)

#	Description	HPO Source Accession
1	intellectual disability ³³	HP:0001249
2	global developmental delay ³³	HP:0001263
3	microcephaly ³³	HP:0000252
4	short stature ³³	HP:0004322
5	micrognathia ³³	HP:0000347
6	ectopic kidney ³³	HP:0000086
7	kyphoscoliosis ³³	HP:0002751
8	convex nasal ridge ³³	HP:0000444
9	spinal cord compression ³³	HP:0002176

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
intellectual disability
global developmental delay
paraplegia secondary to spinal cord compression due to severe kyphosis

Growth Height:
short stature

Genitourinary Kidneys:
ectopic kidney

Head And Neck Nose:
beaked nose

Skeletal Skull:
microcephaly

Head And Neck Face:
micrognathia

Skeletal Spine:
spinal cord compression
kyphoscoliosis, severe

Head And Neck Head:
microcephaly, severe

Clinical features from OMIM:

615807

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Drugs & Therapeutics for Seckel Syndrome 8

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 8

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Genetic Tests for Seckel Syndrome 8

Genetic tests related to Seckel Syndrome 8:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 8 ³⁰	DNA2

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Anatomical Context for Seckel Syndrome 8

MalaCards organs/tissues related to Seckel Syndrome 8:

⁴²

Spinal Cord, Kidney, Bone

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Publications for Seckel Syndrome 8

Articles related to Seckel Syndrome 8:

#	Title	Authors	Year
1	Genomic analysis of primordial dwarfism reveals novel disease genes. ( 24389050 )	Shaheen R...Alkuraya FS	2014

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Genes for Seckel Syndrome 8

Genes related to Seckel Syndrome 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DNA2	DNA Replication Helicase/Nuclease 2	Protein Coding	1086.89	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Summaries Variants (show sections)	24389050

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Variations for Seckel Syndrome 8

ClinVar genetic disease variations for Seckel Syndrome 8:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DNA2	NM_001080449.2(DNA2): c.3114+6delC	deletion	Pathogenic	rs587777614	GRCh37	Chromosome 10, 70176460: 70176460
2	DNA2	NM_001080449.2(DNA2): c.3114+6delC	deletion	Pathogenic	rs587777614	GRCh38	Chromosome 10, 68416703: 68416703

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Expression for Seckel Syndrome 8

Search GEO for disease gene expression data for Seckel Syndrome 8.

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Pathways for Seckel Syndrome 8

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GO Terms for Seckel Syndrome 8

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Sources for Seckel Syndrome 8

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 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 8 (SCKL8)

Aliases & Classifications for Seckel Syndrome 8

MalaCards integrated aliases for Seckel Syndrome 8:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 8

Related Diseases for Seckel Syndrome 8

Diseases in the Seckel Syndrome family:

Symptoms & Phenotypes for Seckel Syndrome 8

Human phenotypes related to Seckel Syndrome 8:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Seckel Syndrome 8

Genetic Tests for Seckel Syndrome 8

Genetic tests related to Seckel Syndrome 8:

Anatomical Context for Seckel Syndrome 8

MalaCards organs/tissues related to Seckel Syndrome 8:

Publications for Seckel Syndrome 8

Articles related to Seckel Syndrome 8:

Genes for Seckel Syndrome 8

Genes related to Seckel Syndrome 8 (1 elite genes):

Variations for Seckel Syndrome 8

ClinVar genetic disease variations for Seckel Syndrome 8:

Expression for Seckel Syndrome 8

Pathways for Seckel Syndrome 8

GO Terms for Seckel Syndrome 8

Sources for Seckel Syndrome 8