MCID: CHR487
MIFTS: 24

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 57 12 29 13 15 72
8q21.11 Microdeletion Syndrome 12 59
Deletion 8q21.11 59
Monosomy 8q21.11 59
Del(8)(q21.11) 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant
isolated cases

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


HPO:

32
chromosome 8q21.11 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060425
OMIM 57 614230
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA284160
MedGen 42 C3280231
UMLS 72 C3280231

Summaries for Chromosome 8q21.11 Deletion Syndrome

OMIM : 57 The chromosome 8q21.11 deletion syndrome is characterized by intellectual disability and common facial dysmorphic features (summary by Palomares et al., 2011). (614230)

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 low-set ears and ptosis

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 10.3
2 chromosome 2q35 duplication syndrome 10.2
3 ptosis 10.2
4 sensorineural hearing loss 10.2
5 hypotonia 10.2

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:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
6 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
7 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
8 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
9 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
10 exaggerated cupid's bow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002263
11 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
14 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
15 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
16 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
17 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
18 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
19 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
20 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
21 absent palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0010489
22 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
23 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
24 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
25 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
26 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
27 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
28 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
29 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
30 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
31 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
32 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
33 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
34 abnormality of the sense of smell 59 32 occasional (7.5%) Occasional (29-5%) HP:0004408
35 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
36 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
37 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
38 corneal opacity 59 Frequent (79-30%)
39 wide nasal bridge 32 HP:0000431
40 abnormal facial shape 59 Very frequent (99-80%)
41 sensorineural hearing impairment 32 HP:0000407
42 protruding ear 32 HP:0000411
43 generalized hypotonia 32 HP:0001290
44 opacification of the corneal stroma 32 HP:0007759
45 camptodactyly 32 HP:0012385
46 short palpebral fissure 32 HP:0012745
47 syndactyly 32 HP:0001159

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
prominent ears
sensorineural hearing loss (3 patients)

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

Head And Neck Nose:
wide nasal bridge
underdeveloped alae

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

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

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

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:

41
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. 38 8
21802062 2011
2
A homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal differentiation manner and suppressed in muscle differentiation manner. 8
16946494 2006
3
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. 8
11935336 2002
4
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome. 38
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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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