MCID: 2Q3005
MIFTS: 20

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 hypertelorism and low-set ears

Related Diseases for 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 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
5 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
12 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
13 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
14 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
15 abnormality of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002997
16 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
17 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
18 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
19 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
20 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
21 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
22 abnormal metacarpal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005916
23 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
24 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
25 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
26 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
27 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
28 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
29 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
30 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
31 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
32 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
33 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
34 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
35 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
36 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
37 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
38 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
39 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
40 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
41 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
42 deep philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0002002
43 low anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0000294
44 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
45 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
46 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
47 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
48 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
49 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
50 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770

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 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 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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