MCID: CHR483
MIFTS: 20

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 58 12 30 74
3q13 Microdeletion Syndrome 12 60
Chromosome 3, Monosomy 3q13 45 74
Monosomy 3q13 12 60
Del(3)(q13) 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chromosome 3q13.31 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 3q13.31 Deletion Syndrome

OMIM : 58 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

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

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000316
3 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
4 agenesis of corpus callosum 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001274
5 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
6 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
7 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
8 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
9 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
10 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
11 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
12 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
13 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
14 abnormality of the fontanelles or cranial sutures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000235
15 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
16 abnormality of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001155
17 abnormality of the urinary system 60 33 hallmark (90%) Very frequent (99-80%) HP:0000079
18 low-set ears 33 occasional (7.5%) HP:0000369
19 ptosis 33 occasional (7.5%) HP:0000508
20 macrotia 33 occasional (7.5%) HP:0000400
21 brachycephaly 33 occasional (7.5%) HP:0000248
22 strabismus 33 occasional (7.5%) HP:0000486
23 dolichocephaly 33 occasional (7.5%) HP:0000268
24 autism 33 occasional (7.5%) HP:0000717
25 attention deficit hyperactivity disorder 33 occasional (7.5%) HP:0007018
26 myopia 33 occasional (7.5%) HP:0000545
27 ventriculomegaly 33 occasional (7.5%) HP:0002119
28 plagiocephaly 33 occasional (7.5%) HP:0001357
29 alobar holoprosencephaly 33 occasional (7.5%) HP:0006988
30 delayed speech and language development 33 HP:0000750
31 high, narrow palate 33 HP:0002705
32 short philtrum 33 HP:0000322
33 decreased testicular size 33 HP:0008734
34 micropenis 33 HP:0000054
35 shawl scrotum 33 HP:0000049

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Chromosome 3q13.31 Deletion Syndrome

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

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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