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 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ⁷³

Sckl8 ⁵⁷ ¹² ⁷⁵

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 Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615807

Disease Ontology ¹² DOID:0070009

MedGen ⁴² C3891452 CN188187

MeSH ⁴⁴ D004392 D008831

SNOMED-CT via HPO ⁶⁹ 258211005 16507009 271611007 more

UMLS ⁷³ C3891452

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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, 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 : ⁷⁵ 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

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

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	convex nasal ridge ³²	HP:0000444
8	kyphoscoliosis ³²	HP:0002751
9	spinal cord compression ³²	HP:0002176

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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 ²⁹	DNA2

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Anatomical Context for Seckel Syndrome 8

MalaCards organs/tissues related to Seckel Syndrome 8:

⁴¹

Spinal Cord, Kidney, Bone

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Publications for Seckel Syndrome 8

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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 ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ 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 ExPASy

¹⁸ FDA Approved Drugs

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

SCKL8 MCID: SCK033 MIFTS: 22	Seckel Syndrome 8 (SCKL8) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Seckel Syndrome 8:

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

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