MCID: CHR220
MIFTS: 18

Chromosome 1p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 1p Deletion

MalaCards integrated aliases for Chromosome 1p Deletion:

Name: Chromosome 1p Deletion 54
Chromosome 1, Monosomy 1p 74
Partial Monosomy 1p 54
1p Deletion 54
1p Monosomy 54
Deletion 1p 54
Monosomy 1p 54

Classifications:



External Ids:

UMLS 74 C0795796

Summaries for Chromosome 1p Deletion

NIH Rare Diseases : 54 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 Vincristine and Isotretinoin 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
2
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
3
Carboplatin Approved Phase 3 41575-94-4 38904 10339178 498142
4
Lenograstim Approved, Investigational Phase 3 135968-09-1
5
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
6
Melphalan Approved Phase 3 148-82-3 460612 4053
7
Busulfan Approved, Investigational Phase 3 55-98-1 2478
8
Etoposide Approved Phase 3 33419-42-0 36462
9 Immunoglobulins Phase 3
10 Antineoplastic Agents, Alkylating Phase 3
11 Antibodies, Monoclonal Phase 3
12 Antineoplastic Agents, Immunological Phase 3
13 Etoposide phosphate Phase 3
14 Ch14.18 monoclonal antibody Phase 3
15 Adjuvants, Immunologic Phase 3
16 Immunosuppressive Agents Phase 3
17 Antibodies Phase 3
18 Immunologic Factors Phase 3
19 Topoisomerase Inhibitors Phase 3
20 Alkylating Agents Phase 3
21 Antimitotic Agents Phase 3
22 Antineoplastic Agents, Phytogenic Phase 3
23 Dermatologic Agents Phase 3
24 Antirheumatic 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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