MCID: 2Q3005
MIFTS: 22

2q31.1 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 2q31.1 Microdeletion Syndrome

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 hypothalamus and pituitary, 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 10.1
2 split-hand/foot malformation 1 10.1
3 chromosome 2q35 duplication syndrome 10.1
4 split-hand/foot malformation 5 10.1
5 brachydactyly 10.1
6 microcephaly 10.1
7 isolated split hand-split foot malformation 10.1

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:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
4 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
11 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
12 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
13 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
14 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
15 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
16 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
17 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
18 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
19 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
20 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
21 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
22 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
23 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
24 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
25 abnormal metacarpal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005916
26 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
27 seizure 31 frequent (33%) HP:0001250
28 hypotonia 31 frequent (33%) HP:0001252
29 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
30 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
31 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
32 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
33 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
34 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
35 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
36 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
37 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
38 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
39 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
40 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
41 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
42 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
43 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
44 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
45 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
46 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
47 abnormality of tibia morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002992
48 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
49 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
50 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294

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

Genetic tests related to 2q31.1 Microdeletion Syndrome:

# Genetic test Affiliating Genes
1 2q31.1 Microdeletion Syndrome 29

Anatomical Context for 2q31.1 Microdeletion Syndrome

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

40
Hypothalamus, Pituitary

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. 61
26185628 2015
2
A patient with five chromosomal rearrangements and a 2q31.1 microdeletion. 61
24412318 2014
3
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. 61
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

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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