MCID: CHR487
MIFTS: 30

Chromosome 8q21.11 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 8q21.11 Deletion Syndrome

MalaCards integrated aliases for Chromosome 8q21.11 Deletion Syndrome:

Name: Chromosome 8q21.11 Deletion Syndrome 56 12 29 13 15 71
8q21.11 Microdeletion Syndrome 12 58
Deletion 8q21.11 58
Monosomy 8q21.11 58
Del(8)(q21.11) 58

Characteristics:

Orphanet epidemiological data:

58
8q21.11 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features
eight unrelated patients have been reported (as of september 2011)


HPO:

31
chromosome 8q21.11 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 8q21.11 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.

MalaCards based summary : Chromosome 8q21.11 Deletion Syndrome, also known as 8q21.11 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome and chromosome 2q35 duplication syndrome. An important gene associated with Chromosome 8q21.11 Deletion Syndrome is DEL8Q21.11 (Chromosome 8q21.11 Deletion Syndrome). Affiliated tissues include bone, and related phenotypes are hearing impairment and intellectual disability

OMIM : 56 The chromosome 8q21.11 deletion syndrome is characterized by intellectual disability and common facial dysmorphic features (summary by Palomares et al., 2011). (614230)

Related Diseases for Chromosome 8q21.11 Deletion Syndrome

Diseases related to Chromosome 8q21.11 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4
2 chromosome 2q35 duplication syndrome 10.2
3 ptosis 10.2
4 sensorineural hearing loss 10.2
5 hypotonia 10.2
6 sclerocornea 9.9 LINC01111 B3GLCT
7 congenital ptosis 9.8 ZFHX4 LINC01111
8 peters-plus syndrome 9.4 ZFHX4-AS1 ZFHX4 MIR3149 LINC01111 B3GLCT

Graphical network of the top 20 diseases related to Chromosome 8q21.11 Deletion Syndrome:



Diseases related to Chromosome 8q21.11 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 8q21.11 Deletion Syndrome

Human phenotypes related to Chromosome 8q21.11 Deletion Syndrome:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
6 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
7 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
8 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
9 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
10 exaggerated cupid's bow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002263
11 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
16 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
17 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
18 sclerocornea 58 31 frequent (33%) Frequent (79-30%) HP:0000647
19 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
20 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
21 absent palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0010489
22 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
23 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
24 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
25 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
26 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
27 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
28 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
29 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
30 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
31 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
32 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
33 abnormality of the metacarpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0001163
34 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
35 abnormality of the sense of smell 58 31 occasional (7.5%) Occasional (29-5%) HP:0004408
36 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
37 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
38 corneal opacity 58 Frequent (79-30%)
39 wide nasal bridge 31 HP:0000431
40 abnormal facial shape 58 Very frequent (99-80%)
41 sensorineural hearing impairment 31 HP:0000407
42 opacification of the corneal stroma 31 HP:0007759
43 protruding ear 31 HP:0000411
44 generalized hypotonia 31 HP:0001290
45 short palpebral fissure 31 HP:0012745
46 camptodactyly 31 HP:0012385
47 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
impaired balance (2 patients)
underdeveloped corpus callosum (3 patients)

Head And Neck Nose:
wide nasal bridge
underdeveloped alae

Head And Neck Ears:
low-set ears
prominent ears
sensorineural hearing loss (3 patients)

Skeletal Hands:
camptodactyly
syndactyly
broadening of the first rays

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
unusual behavior (2 patients)

Head And Neck Neck:
short neck

Head And Neck Face:
full cheeks
micrognathia
short philtrum
high forehead
round face

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
epicanthal folds
short palpebral fissures
corneal opacities

Skeletal Feet:
camptodactyly
syndactyly
broadening of the first rays

Head And Neck Mouth:
downturned corners of the mouth
cupid bow of the upper lip

Clinical features from OMIM:

614230

Drugs & Therapeutics for Chromosome 8q21.11 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 8q21.11 Deletion Syndrome

Genetic Tests for Chromosome 8q21.11 Deletion Syndrome

Genetic tests related to Chromosome 8q21.11 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 8q21.11 Deletion Syndrome 29

Anatomical Context for Chromosome 8q21.11 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 8q21.11 Deletion Syndrome:

40
Bone

Publications for Chromosome 8q21.11 Deletion Syndrome

Articles related to Chromosome 8q21.11 Deletion Syndrome:

# Title Authors PMID Year
1
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. 61 56
21802062 2011
2
A homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal differentiation manner and suppressed in muscle differentiation manner. 56
16946494 2006
3
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. 56
11935336 2002
4
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome. 61
25898976 2015

Variations for Chromosome 8q21.11 Deletion Syndrome

Expression for Chromosome 8q21.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 8q21.11 Deletion Syndrome.

Pathways for Chromosome 8q21.11 Deletion Syndrome

GO Terms for Chromosome 8q21.11 Deletion Syndrome

Biological processes related to Chromosome 8q21.11 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of chemokine production GO:0032722 8.96 RIPK2 IL7
2 positive regulation of cytokine-mediated signaling pathway GO:0001961 8.62 RIPK2 IL7

Sources for Chromosome 8q21.11 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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