MCID: 8P1001
MIFTS: 17

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 azoospermia and cryptorchidism

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

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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