MCID: 8P1001
MIFTS: 15

8p11.2 Deletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 8p11.2 Deletion Syndrome

MalaCards integrated aliases for 8p11.2 Deletion Syndrome:

Name: 8p11.2 Deletion Syndrome 58
Monosomy 8p11.2 58
Del(8)(p11.2) 58

Characteristics:

Orphanet epidemiological data:

58
8p11.2 deletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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 hypothalamus and pituitary, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for 8p11.2 Deletion Syndrome

Symptoms & Phenotypes for 8p11.2 Deletion Syndrome

Human phenotypes related to 8p11.2 Deletion Syndrome:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001878
7 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
8 abnormality of the hypothalamus-pituitary axis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000864
9 spherocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004444
10 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
11 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
14 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
15 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
16 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
17 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
18 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
21 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
22 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
23 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
24 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
25 anosmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000458
26 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
27 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
28 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
29 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
30 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
31 supernumerary ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0005815
32 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
33 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556
34 seizure 31 occasional (7.5%) HP:0001250
35 seizures 58 Occasional (29-5%)
36 growth delay 58 Occasional (29-5%)
37 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
38 hypogonadism 58 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:

40
Hypothalamus, Pituitary

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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