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 ⁵⁶ ¹² ⁷³ ²⁹ ⁶

Sckl9 ⁵⁶ ¹² ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

seckel syndrome 9:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070005

OMIM ⁵⁶ 616777

OMIM Phenotypic Series ⁵⁶ PS210600

MeSH ⁴³ D004392 D008831

MedGen ⁴¹ C4225212 CN235015

Sources

Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : ⁷³ 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 cortex, kidney 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.

More information from OMIM: 616777 PS210600

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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:

³¹ (show all 27)

#	Description	HPO Frequency	HPO Source Accession
1	asthma ³¹	occasional (7.5%)	HP:0002099
2	pulmonary artery hypoplasia ³¹	occasional (7.5%)	HP:0004971
3	global developmental delay ³¹	very rare (1%)	HP:0001263
4	recurrent respiratory infections ³¹	very rare (1%)	HP:0002205
5	short stature ³¹	very rare (1%)	HP:0004322
6	micrognathia ³¹	very rare (1%)	HP:0000347
7	intrauterine growth retardation ³¹	very rare (1%)	HP:0001511
8	microcephaly ³¹	very rare (1%)	HP:0000252
9	protruding ear ³¹	very rare (1%)	HP:0000411
10	ventriculomegaly ³¹	very rare (1%)	HP:0002119
11	narrow face ³¹	very rare (1%)	HP:0000275
12	long face ³¹	very rare (1%)	HP:0000276
13	scaphocephaly ³¹	very rare (1%)	HP:0030799
14	simplified gyral pattern ³¹	very rare (1%)	HP:0009879
15	ventricular septal defect ³¹		HP:0001629
16	polyhydramnios ³¹		HP:0001561
17	recurrent urinary tract infections ³¹		HP:0000010
18	atrial septal defect ³¹		HP:0001631
19	talipes equinovarus ³¹		HP:0001762
20	decreased fetal movement ³¹		HP:0001558
21	congenital diaphragmatic hernia ³¹		HP:0000776
22	convex nasal ridge ³¹		HP:0000444
23	ambiguous genitalia ³¹		HP:0000062
24	hypertrichosis ³¹		HP:0000998
25	small for gestational age ³¹		HP:0001518
26	clitoral hypertrophy ³¹		HP:0008665
27	agonadism ³¹		HP:0008633

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
ambiguous genitalia
urogenital sinus

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)

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

Head And Neck Face:
micrognathia
long narrow face

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

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

Skin Nails Hair Hair:
hypertrichosis

Genitourinary Internal Genitalia Male:
agonadism

Head And Neck Ears:
prominent ears

Skeletal Feet:
club feet

Chest Diaphragm:
diaphragmatic hernia

Prenatal Manifestations Movement:
decreased fetal movements

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 ²⁹	TRAIP

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Anatomical Context for Seckel Syndrome 9

MalaCards organs/tissues related to Seckel Syndrome 9:

⁴⁰

Cortex, Kidney, Bone

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Publications for Seckel Syndrome 9

Articles related to Seckel Syndrome 9:

#	Title	Authors	PMID	Year
1	TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ⁵⁶ ⁶	Harley ME...Jackson AP	26595769	2016
2	Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. ⁵⁶	Silengo M...Lala R	11424145	2001

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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	1317.38	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26595769

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Variations for Seckel Syndrome 9

ClinVar genetic disease variations for Seckel Syndrome 9:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TRAIP	NM_005879.3(TRAIP):c.553C>T (p.Arg185Ter)	SNV	Pathogenic	221232	rs767664526	3:49879323-49879323	3:49841890-49841890
2	TRAIP	NM_005879.3(TRAIP):c.52C>T (p.Arg18Cys)	SNV	Pathogenic	221233	rs864622784	3:49893835-49893835	3:49856402-49856402
3	TRAIP	NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys)	SNV	Uncertain significance	587459	rs536675100	3:49866640-49866640	3:49829207-49829207

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

⁷³

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

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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

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²⁷ GEO DataSets

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³⁵ IUPHAR

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³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

ClinVar genetic disease variations for Seckel Syndrome 9:

UniProtKB/Swiss-Prot 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