Chromosome 18p Deletion Syndrome

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Disease Ontology 12 DOID:0060406 OMIM 58 146390 MeSH 45 C538309 NCIt 51 C84521 ICD10 via Orphanet 35 Q93.5

UMLS via Orphanet 75 C0432442 Orphanet 60 ORPHA1598 MedGen 43 C0432442 SNOMED-CT via HPO 70 11731003 11934000 13649004 162294008 17268007 194021007 204108000 204878001 205681004 22006008 224958001 228156007 229721007 234097001 237836003 24184005 247578003 249321001 25786006 263681008 267258002 271611007 27272007 275478007 275480001 276411001 276610007 277843001 278040002 29164008 30213001 30915001 32958008 34911001 38341003 38804009 391987005 398151007 398152000 405773007 40930008 423230008 425492002 43476002 56317004 61142002 62415009 63567004 64969001 69056000 708670007 80967001 83579008 85828009 87979003 91138005 95219002 95427009 more UMLS 74 C0432442

NIH Rare Diseases : ⁵⁴ Chromosome 18p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 18p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 18p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and alobar holoprosencephaly. An important gene associated with Chromosome 18p Deletion Syndrome is DEL18P (Chromosome 18p Deletion Syndrome). Affiliated tissues include testes, skin and heart, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : ⁷⁷ Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies... more...

Description from OMIM: 146390

Clinical features from OMIM:

146390

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.72	DUX4L7
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.72	DUX4L7
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.72	DUX4 DUX4L8
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.72	DUX4 DUX4L8
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.72	DUX4 DUX4L7 DUX4L8
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-183	9.72	DUX4L7
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.72	DUX4 DUX4L7 DUX4L8
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	9.72	DUX4 DUX4L7 DUX4L8
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	9.72	DUX4 DUX4L8
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.72	DUX4 DUX4L7 DUX4L8
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	9.72	DUX4L7
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.72	DUX4 DUX4L7 DUX4L8

Search Clinical Trials , NIH Clinical Center for Chromosome 18p Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 18p Deletion Syndrome.