MCID: CHR483
MIFTS: 21

Chromosome 3q13.31 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Chromosome 3q13.31 Deletion Syndrome

MalaCards integrated aliases for Chromosome 3q13.31 Deletion Syndrome:

Name: Chromosome 3q13.31 Deletion Syndrome 57 12 29 70
3q13 Microdeletion Syndrome 12 58
Chromosome 3, Monosomy 3q13 44 70
Monosomy 3q13 12 58
Del(3)(q13) 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
chromosome 3q13.31 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 3q13.31 Deletion Syndrome

OMIM® : 57 The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012). Patients with Primrose syndrome (PRIMS; 259050) exhibit features overlapping those of the chromosome 3q13.31 deletion syndrome but also have ossified ear cartilage, severe muscle wasting, and abnormalities of glucose metabolism resulting in insulin-resistant diabetes mellitus in adulthood. Primrose syndrome is caused by mutation in the ZBTB20 gene (606025) on chromosome 3q13. (615433) (Updated 20-May-2021)

MalaCards based summary : Chromosome 3q13.31 Deletion Syndrome, is also known as 3q13 microdeletion syndrome. An important gene associated with Chromosome 3q13.31 Deletion Syndrome is DEL3Q13.31 (Chromosome 3q13.31 Deletion Syndrome). Affiliated tissues include testes, and related phenotypes are macrocephaly and agenesis of corpus callosum

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.

Related Diseases for Chromosome 3q13.31 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 3q13.31 Deletion Syndrome

Human phenotypes related to Chromosome 3q13.31 Deletion Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 agenesis of corpus callosum 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001274
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 hypertelorism 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000316
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
9 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
10 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
11 abnormality of the fontanelles or cranial sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000235
12 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
13 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
14 abnormality of the urinary system 58 31 hallmark (90%) Very frequent (99-80%) HP:0000079
15 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
16 abnormality of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001155
17 hypotonia 31 hallmark (90%) HP:0001252
18 ptosis 31 occasional (7.5%) HP:0000508
19 macrotia 31 occasional (7.5%) HP:0000400
20 brachycephaly 31 occasional (7.5%) HP:0000248
21 strabismus 31 occasional (7.5%) HP:0000486
22 autism 31 occasional (7.5%) HP:0000717
23 attention deficit hyperactivity disorder 31 occasional (7.5%) HP:0007018
24 low-set ears 31 occasional (7.5%) HP:0000369
25 myopia 31 occasional (7.5%) HP:0000545
26 dolichocephaly 31 occasional (7.5%) HP:0000268
27 ventriculomegaly 31 occasional (7.5%) HP:0002119
28 plagiocephaly 31 occasional (7.5%) HP:0001357
29 alobar holoprosencephaly 31 occasional (7.5%) HP:0006988
30 muscular hypotonia 58 Very frequent (99-80%)
31 delayed speech and language development 31 HP:0000750
32 high, narrow palate 31 HP:0002705
33 micropenis 31 HP:0000054
34 short philtrum 31 HP:0000322
35 broad forehead 31 HP:0000337
36 decreased testicular size 31 HP:0008734
37 shawl scrotum 31 HP:0000049

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism
small testes

Head And Neck Mouth:
short philtrum
high arched palate
protruding lips

Neurologic Central Nervous System:
speech delay
hypotonicity
agenesis of corpus callosum (in some patients)
ventriculomegaly (in some patients)
major developmental delay
more
Head And Neck Head:
brachycephaly (in some patients)
plagiocephaly (in some patients)
dolichocephaly (in some patients)

Head And Neck Ears:
low-set ears (in some patients)
large ears (in some patients)

Head And Neck Face:
prominent or broad forehead

Genitourinary External Genitalia Male:
micropenis
shawl scrotum

Head And Neck Eyes:
epicanthal folds
myopia (in some patients)
hypertelorism (in some patients)
strabismus (in some patients)
ptosis (in some patients)
more
Muscle Soft Tissue:
hypotonicity

Neurologic Behavioral Psychiatric Manifestations:
autism (in some patients)
attention deficits (in some patients)

Growth:
postnatal overgrowth

Clinical features from OMIM®:

615433 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 3q13.31 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 3q13.31 Deletion Syndrome

Cochrane evidence based reviews: chromosome 3, monosomy 3q13

Genetic Tests for Chromosome 3q13.31 Deletion Syndrome

Genetic tests related to Chromosome 3q13.31 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 3q13.31 Deletion Syndrome 29

Anatomical Context for Chromosome 3q13.31 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 3q13.31 Deletion Syndrome:

40
Testes

Publications for Chromosome 3q13.31 Deletion Syndrome

Articles related to Chromosome 3q13.31 Deletion Syndrome:

# Title Authors PMID Year
1
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes. 57
25062845 2014
2
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. 57
23878096 2013
3
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. 57
22180640 2012

Variations for Chromosome 3q13.31 Deletion Syndrome

Expression for Chromosome 3q13.31 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 3q13.31 Deletion Syndrome.

Pathways for Chromosome 3q13.31 Deletion Syndrome

GO Terms for Chromosome 3q13.31 Deletion Syndrome

Sources for Chromosome 3q13.31 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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