MCID: CHR634
MIFTS: 14

Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Categories: Genetic diseases

Aliases & Classifications for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

MalaCards integrated aliases for Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

Name: Chromosome 16p12.1 Deletion Syndrome, 520-Kb 57 29
Chromosome 16p12.1 Deletion Syndrome, 520kb 57 12 13

Classifications:



Summaries for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

OMIM : 57 There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay. (136570)

MalaCards based summary : Chromosome 16p12.1 Deletion Syndrome, 520-Kb, also known as chromosome 16p12.1 deletion syndrome, 520kb, is related to 16p12.2 microdeletion. An important gene associated with Chromosome 16p12.1 Deletion Syndrome, 520-Kb is FRA16E (Fragile Site, Distamycin A Type, Rare, Fra(16)(P12.1)). Related phenotypes are seizures and behavioral abnormality

Related Diseases for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Diseases related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 16p12.2 microdeletion 11.5

Symptoms & Phenotypes for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Clinical features from OMIM:

136570

Human phenotypes related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 behavioral abnormality 32 very rare (1%) HP:0000708
3 global developmental delay 32 hallmark (90%) HP:0001263
4 delayed speech and language development 32 hallmark (90%) HP:0000750
5 abnormal facial shape 32 hallmark (90%) HP:0001999
6 generalized hypotonia 32 very rare (1%) HP:0001290
7 abnormality of cardiovascular system morphology 32 hallmark (90%) HP:0030680

Drugs & Therapeutics for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Search Clinical Trials , NIH Clinical Center for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Genetic Tests for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Genetic tests related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

# Genetic test Affiliating Genes
1 Chromosome 16p12.1 Deletion Syndrome, 520-Kb 29 FRA16E

Anatomical Context for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Publications for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Variations for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Expression for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Search GEO for disease gene expression data for Chromosome 16p12.1 Deletion Syndrome, 520-Kb.

Pathways for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

GO Terms for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Sources for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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