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 ⁷⁵ ⁶

Sckl9 ⁵⁷ ¹² ⁷⁵

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 Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616777

Disease Ontology ¹² DOID:0070005

MedGen ⁴² C4225212 CN235015

MeSH ⁴⁴ D004392 D008831

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Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : ⁷⁵ 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 global developmental delay and recurrent respiratory infections

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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)

GenitourinaryInternal GenitaliaMale:
agonadism

Clinical features from OMIM:

616777

Human phenotypes related to Seckel Syndrome 9:

³² (show all 26)

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

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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

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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

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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	1227.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ 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:

⁷⁵

#	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

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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

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⁹ Cosmic

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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

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³⁰ HGMD

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³³ ICD10

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³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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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

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

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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