MCID: CHR667
MIFTS: 36

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 57 12 29
3p- Syndrome 57 12 59 13 15
Distal Monosomy 3p 12 59
Deletion Syndrome, Chromosome 3pter-P25 40
Chromosome 3, Monosomy 3p 72
Telomeric Monosomy 3p 59
Distal 3p Deletion 59
Monosomy 3pter 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
chromosome 3pter-p25 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060417
OMIM 57 613792
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA1620
MedGen 42 C0795806
UMLS 72 C0795806

Summaries for Chromosome 3pter-P25 Deletion Syndrome

OMIM : 57 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 brain, and related phenotypes are hypertelorism and ptosis

Related Diseases for Chromosome 3pter-P25 Deletion Syndrome

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:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
5 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
6 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
8 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 hearing impairment 59 32 occasional (7.5%) Frequent (79-30%) HP:0000365
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
15 cryptorchidism 59 32 occasional (7.5%) Frequent (79-30%) HP:0000028
16 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
17 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
18 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
19 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
20 atrioventricular canal defect 59 32 occasional (7.5%) Frequent (79-30%) HP:0006695
21 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
22 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
23 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
24 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
25 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
26 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
27 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
28 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
29 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
30 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
31 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
32 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
33 preauricular pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0004467
34 abnormal vestibulo-ocular reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0007670
35 prominent nasal bridge 32 occasional (7.5%) HP:0000426
36 macular hypoplasia 32 occasional (7.5%) HP:0001104
37 abnormal renal morphology 32 occasional (7.5%) HP:0012210
38 low-set ears 32 HP:0000369
39 global developmental delay 32 HP:0001263
40 depressed nasal bridge 32 HP:0005280
41 wide nasal bridge 32 HP:0000431
42 broad nasal tip 32 HP:0000455
43 highly arched eyebrow 32 HP:0002553
44 feeding difficulties 32 HP:0011968
45 retrognathia 32 HP:0000278
46 strabismus 32 HP:0000486
47 periorbital fullness 32 HP:0000629
48 absent speech 32 HP:0001344
49 postnatal growth retardation 32 HP:0008897
50 trigonocephaly 32 HP:0000243

Symptoms via clinical synopsis from OMIM:

57
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

Growth Other:
postnatal growth retardation

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)

Skeletal Spine:
sacral dimple

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

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

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

46
# 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 29

Anatomical Context for Chromosome 3pter-P25 Deletion Syndrome

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

41
Heart, Brain

Publications for Chromosome 3pter-P25 Deletion Syndrome

Articles related to Chromosome 3pter-P25 Deletion Syndrome:

(show all 50)
# Title Authors PMID Year
1
Microarray based analysis of 3p25-p26 deletions (3p- syndrome). 38 8
19760623 2009
2
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. 38 8
12195014 2002
3
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. 38 8
11977162 2002
4
Detailed mapping of a congenital heart disease gene in chromosome 3p25. 38 8
10922384 2000
5
CALL gene is haploinsufficient in a 3p- syndrome patient. 38 8
10508992 1999
6
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. 38 8
8933338 1996
7
Molecular genetic analysis of the 3p- syndrome. 38 8
7951234 1994
8
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. 38 8
2178418 1990
9
Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome. 38 8
3443553 1987
10
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. 8
27939639 2017
11
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. 8
25138099 2015
12
Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. 8
17696125 2007
13
Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. 8
16770804 2006
14
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). 8
15857420 2005
15
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 8
15106122 2004
16
A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review. 8
11074119 2000
17
Clinical and molecular analyses of deletion 3p25-pter syndrome. 8
8103286 1993
18
Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases. 8
1481811 1992
19
Two infants with del(3)(p25pter) and a review of previously reported cases. 8
2665488 1989
20
A patient with a partial deletion of the short arm of chromosome 3. 8
623063 1978
21
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior. 38
25256099 2014
22
Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome. 38
24979567 2014
23
A case of partial trisomy 3p syndrome with rare clinical manifestations. 38
22474466 2012
24
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children. 38
21457564 2011
25
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. 38
21082655 2010
26
"CRASH"ing with the worm: insights into L1CAM functions and mechanisms. 38
20225255 2010
27
3p-- syndrome defines a hearing loss locus in 3p25.3. 38
17208398 2007
28
FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. 38
17036314 2006
29
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 38
16700052 2006
30
Aberrant neuronal connectivity in CHL1-deficient mice is associated with altered information processing-related immediate early gene expression. 38
12973829 2003
31
Loss of WAVE-1 causes sensorimotor retardation and reduced learning and memory in mice. 38
12578964 2003
32
Misguided axonal projections, neural cell adhesion molecule 180 mRNA upregulation, and altered behavior in mice deficient for the close homolog of L1. 38
12391163 2002
33
Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. 38
12137942 2002
34
A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain. 38
12202991 2002
35
A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. 38
10932263 2000
36
Does the taurine transporter gene play a role in 3p-syndrome? 38
11787648 2000
37
The taurine transporter gene and its role in renal development. 38
11140355 2000
38
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. 38
10386585 1999
39
In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. 38
9799093 1998
40
Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? 38
9801868 1998
41
Anaesthesia and trisomy 3p syndrome. 38
8909680 1996
42
Del(3) (p25.3) without phenotypic effect. 38
8825934 1995
43
Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature. 38
7586645 1995
44
Mapping of the taurine transporter gene to mouse chromosome 6 and to the short arm of human chromosome 3. 38
7774940 1995
45
Double mitral valve, complete atrioventricular canal, and tricuspid atresia in chromosomal 3P-syndrome. 38
3601739 1987
46
Partial trisomy 3p syndrome. 38
3757296 1986
47
Trisomy 3p syndrome. Report of a new case, due to a chromosomal insertion. 38
6335373 1984
48
The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly. 38
6846406 1983
49
Clinical and cytogenetic spectrum of duplication 3p. 38
7094943 1982
50
Duplication 3p syndrome: report of a new case and review of the literature. 38
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 SRGAP3 SRGAP2
2 11.22 SRGAP3 SRGAP2
3
Show member pathways
10.8 SRGAP3 SRGAP2
4 10.3 SRGAP3 SRGAP2

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 SRGAP3 SRGAP2
2 negative regulation of cell migration GO:0030336 8.62 SRGAP3 SRGAP2

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 SRGAP3 SRGAP2

Sources for Chromosome 3pter-P25 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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