Chromosome 15q25 Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Chromosome 15q25 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q25 Deletion Syndrome:

Name: Chromosome 15q25 Deletion Syndrome ⁵⁶ ¹² ²⁹ ¹³ ⁷¹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth

HPO:

³¹

chromosome 15q25 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060396

OMIM ⁵⁶ 614294

MedGen ⁴¹ C3280355

UMLS ⁷¹ C3280355

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Summaries for Chromosome 15q25 Deletion Syndrome

Disease Ontology : ¹² A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has material basis in partial deletion of the long arm of chromosome 15.

MalaCards based summary : Chromosome 15q25 Deletion Syndrome An important gene associated with Chromosome 15q25 Deletion Syndrome is DEL15Q25 (Chromosome 15q25 Deletion Syndrome). Related phenotypes are dextrocardia and hypertelorism

More information from OMIM: 614294

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Related Diseases for Chromosome 15q25 Deletion Syndrome

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Symptoms & Phenotypes for Chromosome 15q25 Deletion Syndrome

Human phenotypes related to Chromosome 15q25 Deletion Syndrome:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	dextrocardia ³¹	occasional (7.5%)	HP:0001651
2	hypertelorism ³¹		HP:0000316
3	short neck ³¹		HP:0000470
4	pectus excavatum ³¹		HP:0000767
5	inguinal hernia ³¹		HP:0000023
6	global developmental delay ³¹		HP:0001263
7	short stature ³¹		HP:0004322
8	cryptorchidism ³¹		HP:0000028
9	downslanted palpebral fissures ³¹		HP:0000494
10	cleft palate ³¹		HP:0000175
11	tented upper lip vermilion ³¹		HP:0010804
12	attention deficit hyperactivity disorder ³¹		HP:0007018
13	cleft upper lip ³¹		HP:0000204
14	abnormal cardiac septum morphology ³¹		HP:0001671
15	congenital diaphragmatic hernia ³¹		HP:0000776
16	myopathic facies ³¹		HP:0002058
17	long fingers ³¹		HP:0100807
18	macrocytic anemia ³¹		HP:0001972

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Chest External Features:
pectus excavatum

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip
tented upper lip

Head And Neck Face:
myopathic facies

Hematology:
macrocytic anemia
thrombosis

Neurologic Central Nervous System:
delayed psychomotor development

Chest Diaphragm:
diaphragmatic hernia

Head And Neck Neck:
short neck

Muscle Soft Tissue:
inguinal hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention deficit

Skeletal Hands:
long fingers

Cardiovascular Heart:
septal defects
dextrocardia (1 patient)

Growth Other:
poor growth

Clinical features from OMIM:

614294

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Drugs & Therapeutics for Chromosome 15q25 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q25 Deletion Syndrome

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Genetic Tests for Chromosome 15q25 Deletion Syndrome

Genetic tests related to Chromosome 15q25 Deletion Syndrome:

#	Genetic test	Affiliating Genes
1	Chromosome 15q25 Deletion Syndrome ²⁹

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Anatomical Context for Chromosome 15q25 Deletion Syndrome

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Publications for Chromosome 15q25 Deletion Syndrome

Articles related to Chromosome 15q25 Deletion Syndrome:

#	Title	Authors	PMID	Year
1	Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. ⁵⁶	Burgess T...White SM	24352913	2014
2	Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. ⁵⁶	Doelken SC...Graul-Neumann L	23239641	2013
3	An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review. ⁵⁶	Palumbo O...Carella M	23166063	2012
4	A copy number variation morbidity map of developmental delay. ⁵⁶	Cooper GM...Eichler EE	21841781	2011
5	Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. ⁵⁶	Wat MJ...Scott DA	20921022	2010

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Genes for Chromosome 15q25 Deletion Syndrome

Genes related to Chromosome 15q25 Deletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DEL15Q25	Chromosome 15q25 Deletion Syndrome	Genetic Locus	508.49	Structural variation ⁵⁶ GeneCards inferred via : Gene name (show sections)

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Variations for Chromosome 15q25 Deletion Syndrome

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Expression for Chromosome 15q25 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q25 Deletion Syndrome.

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Pathways for Chromosome 15q25 Deletion Syndrome

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GO Terms for Chromosome 15q25 Deletion Syndrome

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