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 inguinal hernia and cryptorchidism

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 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
5 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
6 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
9 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
10 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
11 low anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0000294
12 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
13 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
15 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
16 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
17 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
18 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
19 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
20 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
21 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
22 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
23 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
24 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588
25 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
26 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
27 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
28 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
29 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
30 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
31 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
32 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
33 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
34 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
35 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
36 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
37 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
38 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
39 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
40 deep philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0002002
41 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
42 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
43 language impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002463
44 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
45 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
46 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
47 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
48 abnormality of tibia morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002992
49 abnormality of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002997
50 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422

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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