MCID: 8P1001
MIFTS: 18

8p11.2 Deletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 8p11.2 Deletion Syndrome

Summaries for 8p11.2 Deletion Syndrome

MalaCards based summary : 8p11.2 Deletion Syndrome, is also known as monosomy 8p11.2. An important gene associated with 8p11.2 Deletion Syndrome is ANK1 (Ankyrin 1). Affiliated tissues include pituitary and hypothalamus, and related phenotypes are hypertelorism and high palate

Related Diseases for 8p11.2 Deletion Syndrome

Symptoms & Phenotypes for 8p11.2 Deletion Syndrome

Human phenotypes related to 8p11.2 Deletion Syndrome:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
8 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
9 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
12 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
13 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
14 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
15 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
16 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
17 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
18 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
19 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
20 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
21 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
22 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
23 azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000027
24 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
25 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
26 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
27 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
28 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
29 supernumerary ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0005815
30 preauricular pit 59 32 frequent (33%) Frequent (79-30%) HP:0004467
31 anosmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000458
32 abnormality of the hypothalamus-pituitary axis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000864
33 retinal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000556
34 spherocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004444
35 growth delay 59 Occasional (29-5%)
36 hypogonadism 59 Very frequent (99-80%)

Drugs & Therapeutics for 8p11.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 8p11.2 Deletion Syndrome

Genetic Tests for 8p11.2 Deletion Syndrome

Anatomical Context for 8p11.2 Deletion Syndrome

MalaCards organs/tissues related to 8p11.2 Deletion Syndrome:

41
Pituitary, Hypothalamus

Publications for 8p11.2 Deletion Syndrome

Variations for 8p11.2 Deletion Syndrome

Expression for 8p11.2 Deletion Syndrome

Search GEO for disease gene expression data for 8p11.2 Deletion Syndrome.

Pathways for 8p11.2 Deletion Syndrome

GO Terms for 8p11.2 Deletion Syndrome

Sources for 8p11.2 Deletion 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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