MCID: MCR186
MIFTS: 10

Microtriplication 11q24.1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Microtriplication 11q24.1

MalaCards integrated aliases for Microtriplication 11q24.1:

Name: Microtriplication 11q24.1 59
Tetrasomy 11q24.1 59

Characteristics:

Orphanet epidemiological data:

59
microtriplication 11q24.1
Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q99.8
Orphanet 59 ORPHA289522

Summaries for Microtriplication 11q24.1

MalaCards based summary : Microtriplication 11q24.1, is also known as tetrasomy 11q24.1. Related phenotypes are hypertelorism and joint dislocation

Related Diseases for Microtriplication 11q24.1

Symptoms & Phenotypes for Microtriplication 11q24.1

Human phenotypes related to Microtriplication 11q24.1:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
3 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
4 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
8 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
9 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
12 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
13 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
14 metatarsus adductus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001840
15 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
16 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
17 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
18 hyperlipidemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003077
19 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
20 long eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000527
21 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
22 keratoconus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000563
23 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
24 speech apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011098
25 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
26 hyperkinesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002487
27 attached earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009907
28 broad chin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011822
29 bruxism 59 32 hallmark (90%) Very frequent (99-80%) HP:0003763
30 irregularly spaced teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006316
31 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
32 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
33 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
34 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
35 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
36 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
37 retrocerebellar cyst 59 32 frequent (33%) Frequent (79-30%) HP:0006951
38 seizures 59 Excluded (0%)
39 abnormal facial shape 59 Very frequent (99-80%)

Drugs & Therapeutics for Microtriplication 11q24.1

Search Clinical Trials , NIH Clinical Center for Microtriplication 11q24.1

Genetic Tests for Microtriplication 11q24.1

Anatomical Context for Microtriplication 11q24.1

Publications for Microtriplication 11q24.1

Articles related to Microtriplication 11q24.1:

# Title Authors PMID Year
1
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability. 38
21617255 2011

Variations for Microtriplication 11q24.1

Expression for Microtriplication 11q24.1

Search GEO for disease gene expression data for Microtriplication 11q24.1.

Pathways for Microtriplication 11q24.1

GO Terms for Microtriplication 11q24.1

Sources for Microtriplication 11q24.1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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