MCID: 13Q001
MIFTS: 12

13q12.3 Microdeletion Syndrome

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

Aliases & Classifications for 13q12.3 Microdeletion Syndrome

MalaCards integrated aliases for 13q12.3 Microdeletion Syndrome:

Name: 13q12.3 Microdeletion Syndrome 59
Monosomy 13q12.3 59
Del(13)(q12.3) 59

Characteristics:

Orphanet epidemiological data:

59
13q12.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA412035
ICD10 via Orphanet 34 Q93.5

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 10.0
2 alacrima, achalasia, and mental retardation syndrome 10.0
3 microcephaly 10.0
4 dermatitis 10.0

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:

41
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 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
Content
Loading form....