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

Sources

Aliases & Classifications for Seckel Syndrome 8

MalaCards integrated aliases for Seckel Syndrome 8:

Name: Seckel Syndrome 8 ⁵⁷ ¹² ⁷⁴ ²⁹ ⁶ ⁷²

Sckl8 ⁵⁷ ¹² ⁷⁴

Seckel Syndrome, Type 8 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

seckel syndrome 8:
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:0070009

OMIM ⁵⁷ 615807 PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴² C3891452 CN188187

UMLS ⁷² C3891452

Sources

Summaries for Seckel Syndrome 8

OMIM : ⁵⁷ 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 and kidney, 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 : ⁷⁴ 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.

Sources

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

Sources

Symptoms & Phenotypes for Seckel Syndrome 8

Human phenotypes related to Seckel Syndrome 8:

³² (show all 9)

#	Description	HPO Source Accession
1	intellectual disability ³²	HP:0001249
2	global developmental delay ³²	HP:0001263
3	microcephaly ³²	HP:0000252
4	short stature ³²	HP:0004322
5	micrognathia ³²	HP:0000347
6	ectopic kidney ³²	HP:0000086
7	kyphoscoliosis ³²	HP:0002751
8	convex nasal ridge ³²	HP:0000444
9	spinal cord compression ³²	HP:0002176

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Sources

Drugs & Therapeutics for Seckel Syndrome 8

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 8

Sources

Genetic Tests for Seckel Syndrome 8

Genetic tests related to Seckel Syndrome 8:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 8 ²⁹	DNA2

Sources

Anatomical Context for Seckel Syndrome 8

MalaCards organs/tissues related to Seckel Syndrome 8:

⁴¹

Spinal Cord, Kidney

Sources

Publications for Seckel Syndrome 8

Articles related to Seckel Syndrome 8:

#	Title	Authors	PMID	Year
1	Genomic analysis of primordial dwarfism reveals novel disease genes. ⁸ ⁷¹	Shaheen R...Alkuraya FS	24389050	2014
2	Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. ⁸	Shanske A...Marion RW	9128935	1997

Sources

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	1086.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Summaries Variants (show sections)	24389050

Sources

Variations for Seckel Syndrome 8

ClinVar genetic disease variations for Seckel Syndrome 8:

⁶

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

Sources

Expression for Seckel Syndrome 8

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

Sources

Pathways for Seckel Syndrome 8

Sources

GO Terms for Seckel Syndrome 8

Sources

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 FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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