MCID: 12Q002
MIFTS: 28

12q14 Microdeletion Syndrome

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 12q14 Microdeletion Syndrome

MalaCards integrated aliases for 12q14 Microdeletion Syndrome:

Name: 12q14 Microdeletion Syndrome 20 58
Osteopoikilosis-Short Stature-Intellectual Disability Syndrome 20 58
Deletion 12q14 20 58
Monosomy 12q14 20 58
Del(12)(q14) 20 58

Characteristics:

Orphanet epidemiological data:

58
12q14 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

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


Summaries for 12q14 Microdeletion Syndrome

GARD : 20 12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It can be diagnosed through a genetic test, either a chromosomal microarray or whole exome sequencing.

MalaCards based summary : 12q14 Microdeletion Syndrome, also known as osteopoikilosis-short stature-intellectual disability syndrome, is related to osteopoikilosis and silver-russell syndrome 1. An important gene associated with 12q14 Microdeletion Syndrome is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways/superpathways is DNA Damage/Telomere Stress Induced Senescence. Affiliated tissues include kidney, eye and spleen, and related phenotypes are failure to thrive and global developmental delay

Related Diseases for 12q14 Microdeletion Syndrome

Diseases related to 12q14 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 osteopoikilosis 30.1 LEMD3 HMGA2
2 silver-russell syndrome 1 10.4
3 diencephalic syndrome 10.4
4 learning disability 10.3
5 silver-russell syndrome 5 10.2
6 dwarfism 10.2
7 cardiac arrhythmia 10.1
8 isolated growth hormone deficiency, type ia 10.1
9 scoliosis 10.1
10 microcephaly 10.1
11 growth hormone deficiency 10.1
12 precocious puberty 10.1
13 uniparental disomy of chromosome 7 10.1
14 maternal uniparental disomy 10.1

Graphical network of the top 20 diseases related to 12q14 Microdeletion Syndrome:



Diseases related to 12q14 Microdeletion Syndrome

Symptoms & Phenotypes for 12q14 Microdeletion Syndrome

Human phenotypes related to 12q14 Microdeletion Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
9 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
10 osteopoikilosis 58 31 frequent (33%) Frequent (79-30%) HP:0010739
11 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
12 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
17 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
18 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
19 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
20 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
21 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
22 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
23 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
24 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
25 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
26 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
27 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
28 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
29 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
30 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
31 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
32 abnormality of the spleen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001743
33 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
34 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
35 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
36 abnormality of the nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0005288
37 hypotonia 31 occasional (7.5%) HP:0001252
38 intellectual disability 31 HP:0001249
39 muscular hypotonia 58 Occasional (29-5%)
40 proportionate short stature 31 HP:0003508

Drugs & Therapeutics for 12q14 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 12q14 Microdeletion Syndrome

Genetic Tests for 12q14 Microdeletion Syndrome

Anatomical Context for 12q14 Microdeletion Syndrome

MalaCards organs/tissues related to 12q14 Microdeletion Syndrome:

40
Kidney, Eye, Spleen, Skeletal Muscle

Publications for 12q14 Microdeletion Syndrome

Articles related to 12q14 Microdeletion Syndrome:

(show all 15)
# Title Authors PMID Year
1
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. 20 61
29501611 2018
2
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. 61 20
28407409 2017
3
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. 20
29655892 2018
4
12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome? 61
31900140 2020
5
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. 61
25809938 2015
6
Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition. 61
24468604 2014
7
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. 61
22987822 2012
8
12q14 microdeletion syndrome and short stature with or without relative macrocephaly. 61
22887875 2012
9
Report of a mother and daughter with the 12q14 microdeletion syndrome. 61
22140081 2012
10
Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes. 61
21803798 2011
11
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. 61
21267005 2011
12
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. 61
19762329 2010
13
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes. 61
20425838 2010
14
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. 61
19277063 2009
15
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. 61
19298872 2009

Variations for 12q14 Microdeletion Syndrome

Copy number variations for 12q14 Microdeletion Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 69815 12 56300000 66000000 Microdeletion HMGA2 12q14 microdeletion syndrome

Expression for 12q14 Microdeletion Syndrome

Search GEO for disease gene expression data for 12q14 Microdeletion Syndrome.

Pathways for 12q14 Microdeletion Syndrome

Pathways related to 12q14 Microdeletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.97 LEMD3 HMGA2

GO Terms for 12q14 Microdeletion Syndrome

Sources for 12q14 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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