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, and has symptoms including inguinal hernia, cryptorchidism and cleft palate. An important gene associated with 2q31.1 Microdeletion Syndrome is HOXD13 (Homeobox D13). Affiliated tissues include pituitary and hypothalamus.

Related Diseases for 2q31.1 Microdeletion Syndrome

Symptoms & Phenotypes for 2q31.1 Microdeletion Syndrome

Human phenotypes related to 2q31.1 Microdeletion Syndrome:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 everted lower lip vermilion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000232
5 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
6 trigonocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000243
7 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
8 narrow face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000275
9 coarse facial features 56 32 occasional (7.5%) Occasional (29-5%) HP:0000280
10 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
11 low anterior hairline 56 32 occasional (7.5%) Occasional (29-5%) HP:0000294
12 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
13 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
15 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
16 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
17 bulbous nose 56 32 frequent (33%) Frequent (79-30%) HP:0000414
18 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
19 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
20 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
21 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
22 proptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000520
23 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
24 optic nerve coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000588
25 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
26 synophrys 56 32 occasional (7.5%) Occasional (29-5%) HP:0000664
27 abnormality of the hypothalamus-pituitary axis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000864
28 tapered finger 56 32 frequent (33%) Frequent (79-30%) HP:0001182
29 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
30 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
31 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
32 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
33 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
34 toe syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001770
35 short foot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001773
36 hypoplastic toenails 56 32 frequent (33%) Frequent (79-30%) HP:0001800
37 sandal gap 56 32 frequent (33%) Frequent (79-30%) HP:0001852
38 deep philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0002002
39 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
40 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
41 language impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002463
42 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
43 downturned corners of mouth 56 32 frequent (33%) Frequent (79-30%) HP:0002714
44 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
45 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
46 abnormality of the ulna 56 32 occasional (7.5%) Occasional (29-5%) HP:0002997
47 vertebral segmentation defect 56 32 frequent (33%) Frequent (79-30%) HP:0003422
48 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
49 short palm 56 32 occasional (7.5%) Occasional (29-5%) HP:0004279
50 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322

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:

39
Pituitary, Hypothalamus

Publications for 2q31.1 Microdeletion Syndrome

Articles related to 2q31.1 Microdeletion Syndrome:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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