Seckel Syndrome 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Seckel Syndrome 9

MalaCards integrated aliases for Seckel Syndrome 9:

Name: Seckel Syndrome 9 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶

Sckl9 ⁵⁸ ¹² ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
patients may die in infancy or childhood due to respiratory failure

HPO:

³³

seckel syndrome 9:
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:0070005

OMIM ⁵⁸ 616777

MeSH ⁴⁵ D004392 D008831

MedGen ⁴³ C4225212 CN235015

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Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : ⁷⁶ Seckel syndrome 9: A form of Seckel syndrome, 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.

MalaCards based summary : Seckel Syndrome 9, is also known as sckl9. An important gene associated with Seckel Syndrome 9 is TRAIP (TRAF Interacting Protein). Affiliated tissues include kidney, cortex and bone, and related phenotypes are asthma and pulmonary artery hypoplasia

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous mutation in the TRAIP gene on chromosome 3p21.

Description from OMIM: 616777

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Related Diseases for Seckel Syndrome 9

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 9

Human phenotypes related to Seckel Syndrome 9:

³³ (show all 26)

#	Description	HPO Frequency	HPO Source Accession
1	asthma ³³	occasional (7.5%)	HP:0002099
2	pulmonary artery hypoplasia ³³	occasional (7.5%)	HP:0004971
3	global developmental delay ³³	very rare (1%)	HP:0001263
4	recurrent respiratory infections ³³	very rare (1%)	HP:0002205
5	microcephaly ³³	very rare (1%)	HP:0000252
6	short stature ³³	very rare (1%)	HP:0004322
7	micrognathia ³³	very rare (1%)	HP:0000347
8	intrauterine growth retardation ³³	very rare (1%)	HP:0001511
9	protruding ear ³³	very rare (1%)	HP:0000411
10	ventriculomegaly ³³	very rare (1%)	HP:0002119
11	narrow face ³³	very rare (1%)	HP:0000275
12	long face ³³	very rare (1%)	HP:0000276
13	scaphocephaly ³³	very rare (1%)	HP:0030799
14	simplified gyral pattern ³³	very rare (1%)	HP:0009879
15	atrial septal defect ³³		HP:0001631
16	talipes equinovarus ³³		HP:0001762
17	polyhydramnios ³³		HP:0001561
18	ventricular septal defect ³³		HP:0001629
19	recurrent urinary tract infections ³³		HP:0000010
20	convex nasal ridge ³³		HP:0000444
21	decreased fetal movement ³³		HP:0001558
22	ambiguous genitalia ³³		HP:0000062
23	congenital diaphragmatic hernia ³³		HP:0000776
24	small for gestational age ³³		HP:0001518
25	clitoral hypertrophy ³³		HP:0008665
26	hypertrichosis ³³		HP:0000998

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
microcephaly
scaphocephaly (in some patients)

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
ambiguous genitalia
urogenital sinus

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Ears:
prominent ears

Skeletal Feet:
club feet

Chest Diaphragm:
diaphragmatic hernia

Prenatal Manifestations Movement:
decreased fetal movements

Cardiovascular Vascular:
pulmonary artery hypoplasia, severe (in some patients)

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

Head And Neck Face:
micrognathia
long narrow face

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary Kidneys:
recurrent urinary tract infections
enlarged kidneys
multiple calyceal cysts

Genitourinary External Genitalia Female:
clitoral hypertrophy
underdeveloped labial folds

Head And Neck Nose:
beaked nose

Growth Weight:
low birth weight

Neurologic Central Nervous System:
enlarged ventricular system
developmental delay, mild to moderate
simplified gyri
reduced cerebral cortex

Respiratory Lung:
recurrent severe infections
asthma (rare)

Genitourinary Internal Genitalia Male:
agonadism

Clinical features from OMIM:

616777

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Drugs & Therapeutics for Seckel Syndrome 9

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 9

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Genetic Tests for Seckel Syndrome 9

Genetic tests related to Seckel Syndrome 9:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 9 ³⁰	TRAIP

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Anatomical Context for Seckel Syndrome 9

MalaCards organs/tissues related to Seckel Syndrome 9:

⁴²

Kidney, Cortex, Bone

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Publications for Seckel Syndrome 9

Articles related to Seckel Syndrome 9:

#	Title	Authors	Year
1	TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )	Harley ME...Jackson AP	2016

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Genes for Seckel Syndrome 9

Genes related to Seckel Syndrome 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TRAIP	TRAF Interacting Protein	Protein Coding	1327.29	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	26595769

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Variations for Seckel Syndrome 9

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 9:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	TRAIP	p.Arg18Cys	VAR_076530	rs864622784

ClinVar genetic disease variations for Seckel Syndrome 9:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TRAIP	NM_005879.2(TRAIP): c.553C> T (p.Arg185Ter)	single nucleotide variant	Pathogenic	rs767664526	GRCh38	Chromosome 3, 49841890: 49841890
2	TRAIP	NM_005879.2(TRAIP): c.553C> T (p.Arg185Ter)	single nucleotide variant	Pathogenic	rs767664526	GRCh37	Chromosome 3, 49879323: 49879323
3	TRAIP	NM_005879.2(TRAIP): c.52C> T (p.Arg18Cys)	single nucleotide variant	Pathogenic	rs864622784	GRCh37	Chromosome 3, 49893835: 49893835
4	TRAIP	NM_005879.2(TRAIP): c.52C> T (p.Arg18Cys)	single nucleotide variant	Pathogenic	rs864622784	GRCh38	Chromosome 3, 49856402: 49856402
5	TRAIP	NM_005879.2(TRAIP): c.1306C> T (p.Arg436Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 49866640: 49866640
6	TRAIP	NM_005879.2(TRAIP): c.1306C> T (p.Arg436Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 49829207: 49829207

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Expression for Seckel Syndrome 9

Search GEO for disease gene expression data for Seckel Syndrome 9.

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Pathways for Seckel Syndrome 9

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GO Terms for Seckel Syndrome 9

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Sources for Seckel Syndrome 9

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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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 9 (SCKL9)

Aliases & Classifications for Seckel Syndrome 9

MalaCards integrated aliases for Seckel Syndrome 9:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 9

Related Diseases for Seckel Syndrome 9

Diseases in the Seckel Syndrome family:

Symptoms & Phenotypes for Seckel Syndrome 9

Human phenotypes related to Seckel Syndrome 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Seckel Syndrome 9

Genetic Tests for Seckel Syndrome 9

Genetic tests related to Seckel Syndrome 9:

Anatomical Context for Seckel Syndrome 9

MalaCards organs/tissues related to Seckel Syndrome 9:

Publications for Seckel Syndrome 9

Articles related to Seckel Syndrome 9:

Genes for Seckel Syndrome 9

Genes related to Seckel Syndrome 9 (1 elite genes):

Variations for Seckel Syndrome 9

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 9:

ClinVar genetic disease variations for Seckel Syndrome 9:

Expression for Seckel Syndrome 9

Pathways for Seckel Syndrome 9

GO Terms for Seckel Syndrome 9

Sources for Seckel Syndrome 9