MCID: 2Q3005
MIFTS: 18

2q31.1 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 2q31.1 Microdeletion Syndrome

MalaCards integrated aliases for 2q31.1 Microdeletion Syndrome:

Name: 2q31.1 Microdeletion Syndrome 59
Monosomy 2q31.1 59
Del(2)(q31.1) 59

Characteristics:

Orphanet epidemiological data:

59
2q31.1 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA251014

Summaries for 2q31.1 Microdeletion Syndrome

MalaCards based summary : 2q31.1 Microdeletion Syndrome, also known as monosomy 2q31.1, is related to coloboma of macula and split-hand/foot malformation 1. An important gene associated with 2q31.1 Microdeletion Syndrome is HOXD13 (Homeobox D13). Affiliated tissues include pituitary and hypothalamus, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for 2q31.1 Microdeletion Syndrome

Diseases related to 2q31.1 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.2
2 split-hand/foot malformation 1 10.2
3 chromosome 2q35 duplication syndrome 10.2
4 split-hand/foot malformation 5 10.2
5 brachydactyly 10.2
6 microcephaly 10.2
7 isolated split hand-split foot malformation 10.2

Graphical network of the top 20 diseases related to 2q31.1 Microdeletion Syndrome:



Diseases related to 2q31.1 Microdeletion Syndrome

Symptoms & Phenotypes for 2q31.1 Microdeletion Syndrome

Human phenotypes related to 2q31.1 Microdeletion Syndrome:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
8 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
11 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 abnormal metacarpal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005916
14 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
15 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
16 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
17 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
18 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
19 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
20 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
21 deep philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0002002
22 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
23 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
24 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
25 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
26 prominent metopic ridge 59 32 frequent (33%) Frequent (79-30%) HP:0005487
27 language impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002463
28 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
29 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
30 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
31 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
32 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
33 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
34 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
35 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
36 abnormality of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002997
37 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
38 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
39 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
40 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
41 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
42 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
43 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
44 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
45 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
46 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
47 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
48 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
49 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
50 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275

Drugs & Therapeutics for 2q31.1 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 2q31.1 Microdeletion Syndrome

Genetic Tests for 2q31.1 Microdeletion Syndrome

Anatomical Context for 2q31.1 Microdeletion Syndrome

MalaCards organs/tissues related to 2q31.1 Microdeletion Syndrome:

41
Pituitary, Hypothalamus

Publications for 2q31.1 Microdeletion Syndrome

Articles related to 2q31.1 Microdeletion Syndrome:

# Title Authors PMID Year
1
2q31.1 microdeletion syndrome: case report and literature review. 38
26185628 2015
2
A patient with five chromosomal rearrangements and a 2q31.1 microdeletion. 38
24412318 2014
3
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. 38
21068127 2011

Variations for 2q31.1 Microdeletion Syndrome

Expression for 2q31.1 Microdeletion Syndrome

Search GEO for disease gene expression data for 2q31.1 Microdeletion Syndrome.

Pathways for 2q31.1 Microdeletion Syndrome

GO Terms for 2q31.1 Microdeletion Syndrome

Sources for 2q31.1 Microdeletion Syndrome

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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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