MCID: CHR220
MIFTS: 13

Chromosome 1p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 1p Deletion

MalaCards integrated aliases for Chromosome 1p Deletion:

Name: Chromosome 1p Deletion 53
Chromosome 1, Monosomy 1p 73
Partial Monosomy 1p 53
1p Deletion 53
1p Monosomy 53
Deletion 1p 53
Monosomy 1p 53

Classifications:



External Ids:

UMLS 73 C0795796

Summaries for Chromosome 1p Deletion

NIH Rare Diseases : 53 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. 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 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 1p Deletion, also known as chromosome 1, monosomy 1p, is related to neuroblastoma and oligodendroglioma. The drugs Busulfan and Carboplatin have been mentioned in the context of this disorder.

Related Diseases for Chromosome 1p Deletion

Diseases related to Chromosome 1p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 neuroblastoma 10.1
2 oligodendroglioma 10.1
3 enchondromatosis, multiple, ollier type 9.9
4 chondrosarcoma 9.9
5 colorectal adenocarcinoma 9.9
6 sarcoma 9.9
7 adenocarcinoma 9.9
8 epithelioid sarcoma 9.9
9 anaplastic ependymoma 9.9
10 anaplastic oligodendroglioma 9.9
11 ependymoma 9.9
12 headache 9.9

Graphical network of the top 20 diseases related to Chromosome 1p Deletion:



Diseases related to Chromosome 1p Deletion

Symptoms & Phenotypes for Chromosome 1p Deletion

Drugs & Therapeutics for Chromosome 1p Deletion

Drugs for Chromosome 1p Deletion (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 3 55-98-1 2478
2
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
3
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
4
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
5
Lenograstim Approved, Investigational Phase 3 135968-09-1
6
Melphalan Approved Phase 3 148-82-3 4053 460612
7
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
8
Etoposide Approved Phase 3 33419-42-0 36462
9 Adjuvants, Immunologic Phase 3
10 Etoposide phosphate Phase 3
11 Antineoplastic Agents, Alkylating Phase 3
12 Dermatologic Agents Phase 3
13 Alkylating Agents Phase 3
14 Antibodies Phase 3
15 Immunologic Factors Phase 3
16 Antineoplastic Agents, Phytogenic Phase 3
17 Antibodies, Monoclonal Phase 3
18 Antimitotic Agents Phase 3
19 Topoisomerase Inhibitors Phase 3
20 Antirheumatic Agents Phase 3
21 Immunoglobulins Phase 3
22 Immunosuppressive Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy With or Without Filgrastim Before Surgery, High-Dose Chemotherapy, and Radiation Therapy Followed by Isotretinoin With or Without Monoclonal Antibody in Treating Patients With Neuroblastoma Unknown status NCT00030719 Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;isotretinoin;melphalan;vincristine sulfate

Search NIH Clinical Center for Chromosome 1p Deletion

Genetic Tests for Chromosome 1p Deletion

Anatomical Context for Chromosome 1p Deletion

Publications for Chromosome 1p Deletion

Articles related to Chromosome 1p Deletion:

# Title Authors Year
1
Detection of chromosome 1p deletion using FISH on meningioma touch imprints suggest a region outside chromosome 22 as important in tumor recurrence. ( 12719702 )
2003
2
Interstitial and large chromosome 1p deletion occurs in localized and disseminated neuroblastomas and predicts an unfavourable outcome. ( 9751260 )
1998
3
In-situ cytidine-deaminase activity and chromosome 1P deletion in human neuroblastoma cells. ( 9066694 )
1997
4
PCR assay for chromosome 1p deletion in small neuroblastoma samples. ( 1399134 )
1992

Variations for Chromosome 1p Deletion

Expression for Chromosome 1p Deletion

Search GEO for disease gene expression data for Chromosome 1p Deletion.

Pathways for Chromosome 1p Deletion

GO Terms for Chromosome 1p Deletion

Sources for Chromosome 1p Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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