MCID: 13Q001
MIFTS: 12

13q12.3 Microdeletion Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for 13q12.3 Microdeletion Syndrome

MalaCards integrated aliases for 13q12.3 Microdeletion Syndrome:

Name: 13q12.3 Microdeletion Syndrome 60
Monosomy 13q12.3 60
Del(13)(q12.3) 60

Characteristics:

Orphanet epidemiological data:

60
13q12.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA412035

Summaries for 13q12.3 Microdeletion Syndrome

MalaCards based summary : 13q12.3 Microdeletion Syndrome, also known as monosomy 13q12.3, is related to dermatitis, atopic and alacrima, achalasia, and mental retardation syndrome. An important gene associated with 13q12.3 Microdeletion Syndrome is HMGB1 (High Mobility Group Box 1). Affiliated tissues include skin.

Related Diseases for 13q12.3 Microdeletion Syndrome

Diseases related to 13q12.3 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 10.1
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 dermatitis 10.1
4 microcephaly 10.1

Symptoms & Phenotypes for 13q12.3 Microdeletion Syndrome

Drugs & Therapeutics for 13q12.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 13q12.3 Microdeletion Syndrome

Genetic Tests for 13q12.3 Microdeletion Syndrome

Anatomical Context for 13q12.3 Microdeletion Syndrome

MalaCards organs/tissues related to 13q12.3 Microdeletion Syndrome:

42
Skin

Publications for 13q12.3 Microdeletion Syndrome

Articles related to 13q12.3 Microdeletion Syndrome:

# Title Authors Year
1
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. ( 24664804 )
2014

Variations for 13q12.3 Microdeletion Syndrome

Expression for 13q12.3 Microdeletion Syndrome

Search GEO for disease gene expression data for 13q12.3 Microdeletion Syndrome.

Pathways for 13q12.3 Microdeletion Syndrome

GO Terms for 13q12.3 Microdeletion Syndrome

Sources for 13q12.3 Microdeletion Syndrome

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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