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 ⁵⁷ ¹² ⁷⁴ ²⁹ ⁶

Sckl9 ⁵⁷ ¹² ⁷⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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 ⁵⁷ 616777 PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴² C4225212 CN235015

Sources

Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : ⁷⁴ 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 and cortex, 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:

³² (show all 27)

#	Description	HPO Frequency	HPO Source Accession
1	asthma ³²	occasional (7.5%)	HP:0002099
2	pulmonary artery hypoplasia ³²	occasional (7.5%)	HP:0004971
3	global developmental delay ³²	very rare (1%)	HP:0001263
4	recurrent respiratory infections ³²	very rare (1%)	HP:0002205
5	microcephaly ³²	very rare (1%)	HP:0000252
6	short stature ³²	very rare (1%)	HP:0004322
7	micrognathia ³²	very rare (1%)	HP:0000347
8	protruding ear ³²	very rare (1%)	HP:0000411
9	intrauterine growth retardation ³²	very rare (1%)	HP:0001511
10	ventriculomegaly ³²	very rare (1%)	HP:0002119
11	narrow face ³²	very rare (1%)	HP:0000275
12	long face ³²	very rare (1%)	HP:0000276
13	scaphocephaly ³²	very rare (1%)	HP:0030799
14	simplified gyral pattern ³²	very rare (1%)	HP:0009879
15	recurrent urinary tract infections ³²		HP:0000010
16	atrial septal defect ³²		HP:0001631
17	talipes equinovarus ³²		HP:0001762
18	polyhydramnios ³²		HP:0001561
19	ventricular septal defect ³²		HP:0001629
20	congenital diaphragmatic hernia ³²		HP:0000776
21	decreased fetal movement ³²		HP:0001558
22	convex nasal ridge ³²		HP:0000444
23	ambiguous genitalia ³²		HP:0000062
24	hypertrichosis ³²		HP:0000998
25	small for gestational age ³²		HP:0001518
26	clitoral hypertrophy ³²		HP:0008665
27	agonadism ³²		HP:0008633

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Growth Height:
short stature

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

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

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)

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

Head And Neck Face:
micrognathia
long narrow face

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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:

⁴¹

Kidney, Cortex

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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. ⁸ ⁷¹	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. ⁸	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	1327.39	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ 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	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	TRAIP	NM_005879.3(TRAIP): c.553C> T (p.Arg185Ter)	single nucleotide variant	Pathogenic	rs767664526	3:49879323-49879323	3:49841890-49841890
2	TRAIP	NM_005879.3(TRAIP): c.52C> T (p.Arg18Cys)	single nucleotide variant	Pathogenic	rs864622784	3:49893835-49893835	3:49856402-49856402
3	TRAIP	NM_005879.3(TRAIP): c.1306C> T (p.Arg436Cys)	single nucleotide variant	Uncertain significance		3:49866640-49866640	3:49829207-49829207

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

⁷⁴

#	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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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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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

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⁵² NIH Clinical Center

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⁵⁹ Orphanet

⁶⁰ PathCards

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⁶⁵ R&D Systems

⁶⁶ Reactome

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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 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