MCID: 2Q3005
MIFTS: 19

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, is also known as monosomy 2q31.1. 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

Symptoms & Phenotypes for 2q31.1 Microdeletion Syndrome

Human phenotypes related to 2q31.1 Microdeletion Syndrome:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
4 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
7 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
8 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
10 broad hallux phalanx 60 33 frequent (33%) Frequent (79-30%) HP:0010059
11 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
12 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
13 abnormal metacarpal morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005916
14 hypoplastic toenails 60 33 frequent (33%) Frequent (79-30%) HP:0001800
15 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
16 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
17 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
18 sandal gap 60 33 frequent (33%) Frequent (79-30%) HP:0001852
19 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
20 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
21 deep philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0002002
22 vertebral segmentation defect 60 33 frequent (33%) Frequent (79-30%) HP:0003422
23 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
24 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
25 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
26 prominent metopic ridge 60 33 frequent (33%) Frequent (79-30%) HP:0005487
27 language impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002463
28 short palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0012745
29 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
30 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
31 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
32 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
33 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
34 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
35 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
36 abnormality of the ulna 60 33 occasional (7.5%) Occasional (29-5%) HP:0002997
37 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
38 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
39 short palm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004279
40 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
41 short foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001773
42 everted lower lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000232
43 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
44 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
45 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
46 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
47 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
48 trigonocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000243
49 narrow face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000275
50 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629

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:

42
Pituitary, Hypothalamus

Publications for 2q31.1 Microdeletion Syndrome

Articles related to 2q31.1 Microdeletion Syndrome:

# Title Authors Year
1
2q31.1 microdeletion syndrome: case report and literature review. ( 26185628 )
2015
2
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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