MCID: 12Q002
MIFTS: 30

12q14 Microdeletion Syndrome

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

Aliases & Classifications for 12q14 Microdeletion Syndrome

Summaries for 12q14 Microdeletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94063Disease definition12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygousdeletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : 12q14 Microdeletion Syndrome, also known as osteopoikilosis-short stature-intellectual disability syndrome, is related to silver-russell syndrome and isolated growth hormone deficiency, type ia. 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, skin and skeletal muscle, and related phenotypes are horseshoe kidney and ectopic kidney

Related Diseases for 12q14 Microdeletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 10.1
2 isolated growth hormone deficiency, type ia 10.0
3 osteopoikilosis 10.0
4 dwarfism 10.0

Symptoms & Phenotypes for 12q14 Microdeletion Syndrome

Human phenotypes related to 12q14 Microdeletion Syndrome:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
2 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
3 renal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000089
4 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
5 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
8 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
9 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
10 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
11 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
12 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
13 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
14 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
15 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
16 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
17 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
18 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
19 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
20 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
21 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
22 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
23 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
24 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
25 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
26 abnormality of the spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001743
27 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
28 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
29 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
30 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
31 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
32 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
33 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
34 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
35 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
36 abnormality of the nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0005288
37 osteopoikilosis 59 32 frequent (33%) Frequent (79-30%) HP:0010739
38 intellectual disability 32 HP:0001249
39 proportionate short stature 32 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:

41
Kidney, Skin, Skeletal Muscle, Spleen, Bone, Eye

Publications for 12q14 Microdeletion Syndrome

Articles related to 12q14 Microdeletion Syndrome:

# Title Authors Year
1
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. ( 29501611 )
2018
2
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. ( 28407409 )
2017
3
Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition. ( 24468604 )
2014
4
12q14 microdeletion syndrome and short stature with or without relative macrocephaly. ( 22887875 )
2012
5
Report of a mother and daughter with the 12q14 microdeletion syndrome. ( 22140081 )
2012
6
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. ( 21267005 )
2011
7
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. ( 19762329 )
2010
8
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. ( 19277063 )
2009
9
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. ( 19298872 )
2009

Variations for 12q14 Microdeletion Syndrome

Copy number variations for 12q14 Microdeletion Syndrome from CNVD:

7
# CNVD ID Chromosom 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 HMGA2 LEMD3

GO Terms for 12q14 Microdeletion Syndrome

Sources for 12q14 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
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