MCID: CHR483
MIFTS: 21

Chromosome 3q13.31 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare 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 73
3q13 Microdeletion Syndrome 12 59
Chromosome 3, Monosomy 3q13 44 73
Monosomy 3q13 12 59
Del(3)(q13) 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chromosome 3q13.31 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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)

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 hypertelorism

Related Diseases for Chromosome 3q13.31 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 3q13.31 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
cryptorchidism
small testes

Genitourinary External Genitalia Male:
micropenis
shawl scrotum

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

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

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

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

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000316
3 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
4 agenesis of corpus callosum 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001274
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
7 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
9 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
10 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
11 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
12 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
13 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
14 abnormality of the fontanelles or cranial sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000235
15 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
16 abnormality of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001155
17 abnormality of the urinary system 59 32 hallmark (90%) Very frequent (99-80%) HP:0000079
18 low-set ears 32 occasional (7.5%) HP:0000369
19 ptosis 32 occasional (7.5%) HP:0000508
20 macrotia 32 occasional (7.5%) HP:0000400
21 delayed speech and language development 32 HP:0000750
22 brachycephaly 32 occasional (7.5%) HP:0000248
23 strabismus 32 occasional (7.5%) HP:0000486
24 dolichocephaly 32 occasional (7.5%) HP:0000268
25 autism 32 occasional (7.5%) HP:0000717
26 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018
27 high, narrow palate 32 HP:0002705
28 myopia 32 occasional (7.5%) HP:0000545
29 ventriculomegaly 32 occasional (7.5%) HP:0002119
30 short philtrum 32 HP:0000322
31 decreased testicular size 32 HP:0008734
32 plagiocephaly 32 occasional (7.5%) HP:0001357
33 micropenis 32 HP:0000054
34 shawl scrotum 32 HP:0000049
35 alobar holoprosencephaly 32 occasional (7.5%) HP:0006988

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:

41
Testes

Publications for Chromosome 3q13.31 Deletion Syndrome

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 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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