MCID: 13Q001
MIFTS: 17

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 58
13q12.3 Microdeletion 6
Monosomy 13q12.3 58
Del(13)(q12.3) 58

Characteristics:

Orphanet epidemiological data:

58
13q12.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA412035

Summaries for 13q12.3 Microdeletion Syndrome

MalaCards based summary : 13q12.3 Microdeletion Syndrome, also known as 13q12.3 microdeletion, is related to peters-plus syndrome and dermatitis, atopic. An important gene associated with 13q12.3 Microdeletion Syndrome is HMGB1 (High Mobility Group Box 1). Affiliated tissues include skin, and related phenotypes are malar flattening and obesity

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 peters-plus syndrome 10.2
2 dermatitis, atopic 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 autosomal recessive disease 10.2
5 microcephaly 10.2
6 dermatitis 10.2

Graphical network of the top 20 diseases related to 13q12.3 Microdeletion Syndrome:



Diseases related to 13q12.3 Microdeletion Syndrome

Symptoms & Phenotypes for 13q12.3 Microdeletion Syndrome

Human phenotypes related to 13q12.3 Microdeletion Syndrome:

58 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 Frequent (79-30%)
2 obesity 58 Occasional (29-5%)
3 failure to thrive 58 Frequent (79-30%)
4 constipation 58 Frequent (79-30%)
5 hearing impairment 58 Occasional (29-5%)
6 chronic otitis media 58 Occasional (29-5%)
7 hip dysplasia 58 Occasional (29-5%)
8 recurrent respiratory infections 58 Frequent (79-30%)
9 delayed speech and language development 58 Frequent (79-30%)
10 short stature 58 Frequent (79-30%)
11 cryptorchidism 58 Occasional (29-5%)
12 underdeveloped nasal alae 58 Frequent (79-30%)
13 intrauterine growth retardation 58 Frequent (79-30%)
14 intellectual disability, moderate 58 Frequent (79-30%)
15 vomiting 58 Frequent (79-30%)
16 hyperactivity 58 Frequent (79-30%)
17 kyphoscoliosis 58 Occasional (29-5%)
18 thin upper lip vermilion 58 Frequent (79-30%)
19 impaired pain sensation 58 Frequent (79-30%)
20 obstructive sleep apnea 58 Occasional (29-5%)
21 congenital diaphragmatic hernia 58 Occasional (29-5%)
22 camptodactyly 58 Frequent (79-30%)
23 upper eyelid edema 58 Frequent (79-30%)
24 atopic dermatitis 58 Frequent (79-30%)
25 oligodontia 58 Frequent (79-30%)
26 hypermetropia 58 Frequent (79-30%)
27 self-mutilation 58 Frequent (79-30%)
28 allergy 58 Occasional (29-5%)
29 low insertion of columella 58 Frequent (79-30%)
30 hemihypotrophy of lower limb 58 Occasional (29-5%)

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:

40
Skin

Publications for 13q12.3 Microdeletion Syndrome

Articles related to 13q12.3 Microdeletion Syndrome:

# Title Authors PMID Year
1
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. 61
24664804 2014
2
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 61
25506442 2014

Variations for 13q12.3 Microdeletion Syndrome

ClinVar genetic disease variations for 13q12.3 Microdeletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NC_000013.11:g.30435737_30695813deldeletion Uncertain significance 810673

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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