MCID: CHR396
MIFTS: 42

Chromosome 2p16.1-P15 Deletion Syndrome

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

Aliases & Classifications for Chromosome 2p16.1-P15 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2p16.1-P15 Deletion Syndrome:

Name: Chromosome 2p16.1-P15 Deletion Syndrome 57 12 13 15 73
2p15-P16.1 Microdeletion Syndrome 12 53 59
2p15p16.1 Microdeletion Syndrome 12 53 59
Monosomy 2p15-P16.1 53 59
Monosomy 2p15p16.1 53 59
Del(2)(p15p16.1) 53 59

Characteristics:

Orphanet epidemiological data:

59
2p15p16.1 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
onset at birth or early infancy
brain malformations are variable


HPO:

32
chromosome 2p16.1-p15 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 2p16.1-P15 Deletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 261349Disease definition2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.EpidemiologyIt has been clinically and molecularly characterized in 5 patients.Clinical descriptionDysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. Ophthalmologic examination in 4 patients revealed bilateral optic atrophy/hypoplasia. Microcephaly, short stature, genitourinary abnormalities and behavioral problems are common.EtiologyThis syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions were characterized by comparative genomic hybridisation (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 2p16.1-P15 Deletion Syndrome, also known as 2p15-p16.1 microdeletion syndrome, is related to intellectual developmental disorder with persistence of fetal hemoglobin and bile duct cysts. An important gene associated with Chromosome 2p16.1-P15 Deletion Syndrome is DEL2P16.1-P15 (Chromosome 2p16.1-P15 Deletion Syndrome), and among its related pathways/superpathways are SMAD Signaling Network and Initiation of Nuclear Envelope Reformation. Affiliated tissues include brain, kidney and testes, and related phenotypes are low-set ears and pectus excavatum

OMIM : 57 Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene (606557) also have persistence of fetal hemoglobin (HbF), which is asymptomatic and does not affected hematologic parameters or susceptibility to infection (summary by Funnell et al., 2015). Point mutation in the BCL11A gene causes intellectual developmental disorder with persistence of fetal hemoglobin (617101), which shows overlapping features. See also fetal hemoglobin quantitative trait locus-5 (HBFQTL5; 142335). (612513)

Related Diseases for Chromosome 2p16.1-P15 Deletion Syndrome

Diseases related to Chromosome 2p16.1-P15 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder with persistence of fetal hemoglobin 11.3
2 bile duct cysts 10.2
3 craniosynostosis 10.2
4 autism 10.2
5 primary mediastinal b-cell lymphoma 9.9 BCL11A REL XPO1
6 mediastinal malignant lymphoma 9.8 BCL11A REL XPO1

Graphical network of the top 20 diseases related to Chromosome 2p16.1-P15 Deletion Syndrome:



Diseases related to Chromosome 2p16.1-P15 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 2p16.1-P15 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
large ears
hearing loss, sensorineural (reported in 1 patient)

Head And Neck Eyes:
ptosis
strabismus
telecanthus
optic nerve hypoplasia
downslanting palpebral fissures
more
Growth Height:
short stature

Head And Neck Face:
retrognathia
bitemporal narrowing
receding, short forehead
smooth, long philtrum

Skeletal Feet:
metatarsus adductus
calcaneovalgus

Skeletal Hands:
arachnodactyly
camptodactyly

Genitourinary Kidneys:
hydronephrosis

Head And Neck Nose:
prominent nasal tip
broad nasal root
depressed nasal root
high nasal root

Head And Neck Mouth:
thin upper lip
everted lower lip
high narrow palate
smooth upper vermilion border

Chest Breasts:
widely spaced nipples

Skin Nails Hair Hair:
long, straight eyelashes

Respiratory Larynx:
laryngomalacia (reported in 1 patient)

Hematology:
elevated fetal hemoglobin (hbf) (in patients with deletion of the bcl11a gene)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Head:
microcephaly
brachycephaly

Abdomen Gastrointestinal:
feeding difficulties

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small testes

Endocrine Features:
hypogonadism

Voice:
nasal speech

Neurologic Central Nervous System:
pachygyria
hypoplasia of the corpus callosum
cerebral atrophy
cortical dysplasia
hypoplasia of the pons
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit

Respiratory:
frequent upper respiratory infections

Cardiovascular Heart:
valvular defects (reported in 1 patient)

Skeletal Spine:
kyphoscoliosis (reported in 1 patient)


Clinical features from OMIM:

612513

Human phenotypes related to Chromosome 2p16.1-P15 Deletion Syndrome:

59 32 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
6 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
7 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
8 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
9 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
12 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
13 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
14 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
15 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
16 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
17 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
18 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
19 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
20 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
21 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
22 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
23 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
24 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
25 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
26 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
27 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
28 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
29 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
30 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
31 toe clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001863
32 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
33 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
34 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
35 metatarsus adductus 59 32 frequent (33%) Frequent (79-30%) HP:0001840
36 enlarged thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0100625
37 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
38 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
39 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
40 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
41 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
42 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
43 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
44 optic nerve hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000609
45 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
46 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
47 decreased testicular size 59 32 occasional (7.5%) Occasional (29-5%) HP:0008734
48 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
49 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
50 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494

GenomeRNAi Phenotypes related to Chromosome 2p16.1-P15 Deletion Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.77 CDKN2A VRK2
2 Decreased viability GR00221-A-2 9.77 REL
3 Decreased viability GR00221-A-3 9.77 CDKN2A REL VRK2
4 Decreased viability GR00221-A-4 9.77 CDKN2A REL VRK2
5 Decreased viability GR00301-A 9.77 REL
6 Decreased viability GR00402-S-2 9.77 CDKN2A REL VRK2
7 Decreased Aire reporter expression GR00304-A 9.33 BANF1 PAPOLG REL
8 Nuclear 40S maturation defects GR00209-A-2 8.62 RPS5 XPO1

Drugs & Therapeutics for Chromosome 2p16.1-P15 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2p16.1-P15 Deletion Syndrome

Genetic Tests for Chromosome 2p16.1-P15 Deletion Syndrome

Anatomical Context for Chromosome 2p16.1-P15 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 2p16.1-P15 Deletion Syndrome:

41
Brain, Kidney, Testes, Cerebellum, Pons, B Cells

Publications for Chromosome 2p16.1-P15 Deletion Syndrome

Articles related to Chromosome 2p16.1-P15 Deletion Syndrome:

# Title Authors Year
1
[Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome]. ( 26663057 )
2015
2
Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients. ( 25900130 )
2015
3
Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients". ( 26153024 )
2015
4
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome. ( 23495096 )
2013
5
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. ( 21750575 )
2011

Variations for Chromosome 2p16.1-P15 Deletion Syndrome

Expression for Chromosome 2p16.1-P15 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2p16.1-P15 Deletion Syndrome.

Pathways for Chromosome 2p16.1-P15 Deletion Syndrome

Pathways related to Chromosome 2p16.1-P15 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 CDKN2A REL XPO1
2
Show member pathways
10.67 BANF1 VRK2
3 10.53 CDKN2A REL XPO1

GO Terms for Chromosome 2p16.1-P15 Deletion Syndrome

Cellular components related to Chromosome 2p16.1-P15 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.17 BANF1 BCL11A CDKN2A PAPOLG REL RPS5

Biological processes related to Chromosome 2p16.1-P15 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein sumoylation GO:0016925 8.62 BCL11A CDKN2A

Sources for Chromosome 2p16.1-P15 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
Content
Loading form....