MCID: CHR667
MIFTS: 38

Chromosome 3pter-P25 Deletion Syndrome

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

Aliases & Classifications for Chromosome 3pter-P25 Deletion Syndrome

MalaCards integrated aliases for Chromosome 3pter-P25 Deletion Syndrome:

Name: Chromosome 3pter-P25 Deletion Syndrome 58 12 30
3p- Syndrome 58 12 60 13 15
Distal Monosomy 3p 12 60
Deletion Syndrome, Chromosome 3pter-P25 41
Chromosome 3, Monosomy 3p 74
Telomeric Monosomy 3p 60
Distal 3p Deletion 60
Monosomy 3pter 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

33
chromosome 3pter-p25 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 3pter-P25 Deletion Syndrome

OMIM : 58 Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by Shuib et al., 2009). (613792)

MalaCards based summary : Chromosome 3pter-P25 Deletion Syndrome, also known as 3p- syndrome, is related to chromosome 3p- syndrome and chromosome 3p deletion, and has symptoms including muscle spasticity An important gene associated with Chromosome 3pter-P25 Deletion Syndrome is DEL3PTERP25 (3p- Syndrome), and among its related pathways/superpathways are Axon guidance and Guidance Cues and Growth Cone Motility. Affiliated tissues include heart, and related phenotypes are hypertelorism and ptosis

Related Diseases for Chromosome 3pter-P25 Deletion Syndrome

Diseases related to Chromosome 3pter-P25 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 3p- syndrome 11.4
2 chromosome 3p deletion 11.1
3 chromosome 3p duplication 9.9
4 xp22.3 microdeletion syndrome 9.9
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
6 chromosomal triplication 9.8
7 van der woude syndrome 1 9.7 SRGAP2 SRGAP3

Graphical network of the top 20 diseases related to Chromosome 3pter-P25 Deletion Syndrome:



Diseases related to Chromosome 3pter-P25 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 3pter-P25 Deletion Syndrome

Human phenotypes related to Chromosome 3pter-P25 Deletion Syndrome:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
5 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
8 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
9 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
10 hearing impairment 60 33 occasional (7.5%) Frequent (79-30%) HP:0000365
11 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
12 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
13 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
14 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
15 cryptorchidism 60 33 occasional (7.5%) Frequent (79-30%) HP:0000028
16 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
17 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
18 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
19 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
20 atrioventricular canal defect 60 33 occasional (7.5%) Frequent (79-30%) HP:0006695
21 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
22 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
23 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
24 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
25 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
26 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
27 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
28 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
29 blepharophimosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000581
30 sacral dimple 60 33 occasional (7.5%) Occasional (29-5%) HP:0000960
31 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
32 triangular face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000325
33 preauricular pit 60 33 occasional (7.5%) Occasional (29-5%) HP:0004467
34 abnormal vestibulo-ocular reflex 60 33 occasional (7.5%) Occasional (29-5%) HP:0007670
35 prominent nasal bridge 33 occasional (7.5%) HP:0000426
36 abnormal renal morphology 33 occasional (7.5%) HP:0012210
37 macular hypoplasia 33 occasional (7.5%) HP:0001104
38 low-set ears 33 HP:0000369
39 global developmental delay 33 HP:0001263
40 depressed nasal bridge 33 HP:0005280
41 wide nasal bridge 33 HP:0000431
42 feeding difficulties 33 HP:0011968
43 retrognathia 33 HP:0000278
44 strabismus 33 HP:0000486
45 periorbital fullness 33 HP:0000629
46 absent speech 33 HP:0001344
47 postnatal growth retardation 33 HP:0008897
48 trigonocephaly 33 HP:0000243
49 upslanted palpebral fissure 33 HP:0000582
50 broad nasal tip 33 HP:0000455

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
periorbital fullness
blepharophimosis
more
Muscle Soft Tissue:
spasticity
muscle hypotonia
muscle hypertonicity

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
retrognathia
triangular face
mandible small

Head And Neck Mouth:
downturned corners of mouth
high-arched palate
thin lips

Skeletal Hands:
postaxial polydactyly
tapering fingers

Skeletal Skull:
prominent metopic suture

Abdomen Gastrointestinal:
feeding problems

Neurologic Central Nervous System:
seizures (rare)
poor or absent speech
psychomotor retardation, severe to profound

Genitourinary Kidneys:
renal malformation (in some patients)

Head And Neck Ears:
low-set ears
preauricular fistulas
preauricular pits
hearing loss (in some patients)
poorly shaped ears

Head And Neck Nose:
anteverted nares
broad nasal tip
broad nasal bridge
flat nasal bridge
prominent columella
more
Head And Neck Head:
brachycephaly
trigonocephaly
flat occiput
microcephaly (up to -3.4 sd)

Growth Other:
postnatal growth retardation

Skeletal Spine:
sacral dimple

Skeletal Feet:
postaxial polydactyly

Growth Weight:
low birth weight

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Cardiovascular Heart:
congenital heart disease (in some patients)
atrioventricular septal defect (in some patients)

Clinical features from OMIM:

613792

UMLS symptoms related to Chromosome 3pter-P25 Deletion Syndrome:


muscle spasticity

GenomeRNAi Phenotypes related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.4 SRGAP3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.4 SRGAP3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.4 CRELD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 SRGAP3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.4 SRGAP3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.4 CRELD1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.4 CRELD1 SRGAP3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.4 SRGAP3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.4 SRGAP3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 SRGAP3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.4 CRELD1

MGI Mouse Phenotypes related to Chromosome 3pter-P25 Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 ATP2B2 CNTN4 CRELD1 SRGAP2 SRGAP3

Drugs & Therapeutics for Chromosome 3pter-P25 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 3pter-P25 Deletion Syndrome

Genetic Tests for Chromosome 3pter-P25 Deletion Syndrome

Genetic tests related to Chromosome 3pter-P25 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 3pter-P25 Deletion Syndrome 30

Anatomical Context for Chromosome 3pter-P25 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 3pter-P25 Deletion Syndrome:

42
Heart

Publications for Chromosome 3pter-P25 Deletion Syndrome

Articles related to Chromosome 3pter-P25 Deletion Syndrome:

(show all 16)
# Title Authors Year
1
Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome. ( 24979567 )
2014
2
A case of partial trisomy 3p syndrome with rare clinical manifestations. ( 22474466 )
2012
3
Microarray based analysis of 3p25-p26 deletions (3p- syndrome). ( 19760623 )
2009
4
3p-- syndrome defines a hearing loss locus in 3p25.3. ( 17208398 )
2007
5
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. ( 11977162 )
2002
6
Does the taurine transporter gene play a role in 3p-syndrome? ( 11787648 )
2000
7
Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. ( 10386585 )
1999
8
CALL gene is haploinsufficient in a 3p- syndrome patient. ( 10508992 )
1999
9
Anaesthesia and trisomy 3p syndrome. ( 8909680 )
1996
10
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. ( 8933338 )
1996
11
Molecular genetic analysis of the 3p- syndrome. ( 7951234 )
1994
12
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. ( 2178418 )
1990
13
Double mitral valve, complete atrioventricular canal, and tricuspid atresia in chromosomal 3P-syndrome. ( 3601739 )
1987
14
Partial trisomy 3p syndrome. ( 3757296 )
1986
15
Trisomy 3p syndrome. Report of a new case, due to a chromosomal insertion. ( 6335373 )
1984
16
Duplication 3p syndrome: report of a new case and review of the literature. ( 7246613 )
1981

Variations for Chromosome 3pter-P25 Deletion Syndrome

Expression for Chromosome 3pter-P25 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 3pter-P25 Deletion Syndrome.

Pathways for Chromosome 3pter-P25 Deletion Syndrome

Pathways related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.51 SRGAP2 SRGAP3
2 11.22 SRGAP2 SRGAP3
3
Show member pathways
10.8 SRGAP2 SRGAP3
4 10.3 SRGAP2 SRGAP3

GO Terms for Chromosome 3pter-P25 Deletion Syndrome

Biological processes related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of small GTPase mediated signal transduction GO:0051056 8.96 SRGAP2 SRGAP3
2 negative regulation of cell migration GO:0030336 8.62 SRGAP2 SRGAP3

Molecular functions related to Chromosome 3pter-P25 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 SRGAP2 SRGAP3

Sources for Chromosome 3pter-P25 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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