MCID: 3PS001
MIFTS: 41

3p- Syndrome

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

Aliases & Classifications for 3p- Syndrome

MalaCards integrated aliases for 3p- Syndrome:

Name: 3p- Syndrome 54 12 56 13 14
Chromosome 3pter-P25 Deletion Syndrome 12 29
Distal Monosomy 3p 12 56
Chromosome 3, Monosomy 3p 69
Telomeric Monosomy 3p 56
Distal 3p Deletion 56
Monosomy 3pter 56

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
3p- syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for 3p- Syndrome

OMIM : 54
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 : 3p- Syndrome, also known as chromosome 3pter-p25 deletion syndrome, is related to chromosome 3p- syndrome and chromosome 3p deletion, and has symptoms including short stature, umbilical hernia and ventriculomegaly. An important gene associated with 3p- Syndrome is DEL3PTERP25 (3p- Syndrome), and among its related pathways/superpathways are Signaling by Robo receptor and Signaling by Slit. The drugs Iron and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include heart and pancreas, and related phenotype is nervous system.

Related Diseases for 3p- Syndrome

Diseases related to 3p- Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chromosome 3p- syndrome 12.1
2 chromosome 3p deletion 10.8
3 rippling muscle disease 5.8 ATP2B2 CA2 CAV3 CHL1 CNTN4 CRBN

Symptoms & Phenotypes for 3p- Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Nose:
flat nasal bridge
anteverted nares
broad nasal tip
broad nasal bridge
tubular nose
more
Head And Neck- Eyes:
strabismus
ptosis
arched eyebrows
epicanthal folds
hypertelorism
more
Head And Neck- Ears:
low-set ears
hearing loss (in some patients)
preauricular pits
preauricular fistulas
poorly shaped ears

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

Growth- Weight:
low birth weight

Skeletal- Feet:
postaxial polydactyly

Genitourinary- Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal- Skull:
prominent metopic suture

Genitourinary- Kidneys:
renal malformation (in some patients)

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

Abdomen- Gastroin testinal:
feeding problems

Muscle Soft Tissue:
spasticity
muscle hypotonia
muscle hypertonicity

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

Head And Neck- Head:
trigonocephaly
brachycephaly
flat occiput
microcephaly (up to -3.4 sd)

Skeletal- Hands:
postaxial polydactyly
tapering fingers

Growth- Other:
postnatal growth retardation

Skeletal- Spine:
sacral dimple

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


Clinical features from OMIM:

613792

Human phenotypes related to 3p- Syndrome:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
3 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
4 spasticity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001257
5 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
8 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
9 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
10 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
11 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
12 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
13 anteverted nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 cryptorchidism 56 32 occasional (7.5%) Frequent (79-30%) HP:0000028
15 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
16 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
17 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
18 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
19 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
20 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
21 triangular face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000325
22 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
23 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
24 blepharophimosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000581
25 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
26 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
27 downturned corners of mouth 56 32 frequent (33%) Frequent (79-30%) HP:0002714
28 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
29 hearing impairment 56 32 occasional (7.5%) Frequent (79-30%) HP:0000365
30 preauricular pit 56 32 occasional (7.5%) Occasional (29-5%) HP:0004467
31 atrioventricular canal defect 56 32 occasional (7.5%) Frequent (79-30%) HP:0006695
32 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
33 postaxial hand polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001162
34 abnormal vestibulo-ocular reflex 56 32 occasional (7.5%) Occasional (29-5%) HP:0007670
35 low-set ears 32 HP:0000369
36 depressed nasal bridge 32 HP:0005280
37 trigonocephaly 32 HP:0000243
38 retrognathia 32 HP:0000278
39 periorbital fullness 32 HP:0000629
40 synophrys 32 HP:0000664
41 feeding difficulties 32 HP:0011968
42 postaxial polydactyly 32 HP:0100259
43 postnatal growth retardation 32 HP:0008897
44 macular hypoplasia 32 occasional (7.5%) HP:0001104
45 prominent nasal bridge 32 occasional (7.5%) HP:0000426
46 flat occiput 32 HP:0005469
47 prominent metopic ridge 32 HP:0005487
48 upslanted palpebral fissure 32 HP:0000582
49 abnormal renal morphology 32 occasional (7.5%) HP:0012210

UMLS symptoms related to 3p- Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to 3p- Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.23 ATP2B2 CA2 CHL1 CNTN4 DDX11 OXTR

Drugs & Therapeutics for 3p- Syndrome

Drugs for 3p- Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925
2 Micronutrients Phase 2
3 Trace Elements Phase 2
4
Pancrelipase Approved 53608-75-6
5
Secretin Approved, Investigational 108153-74-8
6 Hormones
7 Gastrointestinal Agents
8 Hormone Antagonists
9 Hormones, Hormone Substitutes, and Hormone Antagonists
10 pancreatin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Intravenous Iron Metabolism in Restless Legs Syndrome Completed NCT00685815 Phase 2 Ferric Carboxymaltose (FCM);Placebo
2 Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity Completed NCT01404624
3 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
4 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
5 Trans-pulmonary Pressure in ARDS Recruiting NCT02416037

Search NIH Clinical Center for 3p- Syndrome

Genetic Tests for 3p- Syndrome

Genetic tests related to 3p- Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 3pter-P25 Deletion Syndrome 29

Anatomical Context for 3p- Syndrome

MalaCards organs/tissues related to 3p- Syndrome:

39
Heart, Pancreas

Publications for 3p- Syndrome

Articles related to 3p- Syndrome:

(show all 11)
id Title Authors Year
1
A case of partial trisomy 3p syndrome with rare clinical manifestations. ( 22474466 )
2012
2
Microarray based analysis of 3p25-p26 deletions (3p- syndrome). ( 19760623 )
2009
3
3p-- syndrome defines a hearing loss locus in 3p25.3. ( 17208398 )
2007
4
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. ( 11977162 )
2002
5
CALL gene is haploinsufficient in a 3p- syndrome patient. ( 10508992 )
1999
6
Anaesthesia and trisomy 3p syndrome. ( 8909680 )
1996
7
Molecular genetic analysis of the 3p- syndrome. ( 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. ( 2178418 )
1990
9
Partial trisomy 3p syndrome. ( 3757296 )
1986
10
Trisomy 3p syndrome. Report of a new case, due to a chromosomal insertion. ( 6335373 )
1984
11
Duplication 3p syndrome: report of a new case and review of the literature. ( 7246613 )
1981

Variations for 3p- Syndrome

Expression for 3p- Syndrome

Search GEO for disease gene expression data for 3p- Syndrome.

Pathways for 3p- Syndrome

Pathways related to 3p- Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.8 SRGAP2 SRGAP3
2 10.3 SRGAP2 SRGAP3

GO Terms for 3p- Syndrome

Cellular components related to 3p- Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microvillus GO:0005902 8.62 CA2 OXTR

Biological processes related to 3p- Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to steroid hormone GO:0048545 8.96 CA2 OXTR
2 positive regulation of synaptic transmission, GABAergic GO:0032230 8.62 CA2 OXTR

Molecular functions related to 3p- Syndrome according to GeneCards Suite gene sharing:

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

Sources for 3p- Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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