MCID: CHR396
MIFTS: 39

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 58 12 13 15 74
2p15p16.1 Microdeletion Syndrome 12 54 60
2p15-P16.1 Microdeletion Syndrome 12 54
Monosomy 2p15p16.1 54 60
Del(2)(p15p16.1) 54 60
Monosomy 2p15-P16.1 54

Characteristics:

Orphanet epidemiological data:

60
2p15p16.1 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

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


HPO:

33
chromosome 2p16.1-p15 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 2p16.1-P15 Deletion Syndrome

NIH Rare Diseases : 54 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 2p15p16.1 microdeletion syndrome, is related to intellectual developmental disorder with persistence of fetal hemoglobin and autism. 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 pons, and related phenotypes are high palate and ptosis

OMIM : 58 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 autism 10.2
3 bile duct cysts 10.2
4 craniosynostosis 10.2
5 primary mediastinal b-cell lymphoma 9.8 BCL11A REL XPO1
6 mediastinal malignant lymphoma 9.7 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

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

60 33 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
6 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
7 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
8 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
9 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
10 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
11 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
12 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
13 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
14 optic nerve hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000609
15 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
16 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
17 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
18 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
19 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
20 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
21 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
22 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
23 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
24 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
25 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
26 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
27 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
28 metatarsus adductus 60 33 frequent (33%) Frequent (79-30%) HP:0001840
29 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
30 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
31 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
32 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
33 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
34 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
35 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
36 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
37 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
38 lower limb spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0002061
39 prominent nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0005274
40 narrow forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000341
41 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
42 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
43 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
44 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
45 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
46 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
47 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
48 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
49 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
50 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 9.13 BANF1 PAPOLG REL
2 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:

42
Brain, Kidney, Pons, Testes, Cerebellum, B Cells

Publications for Chromosome 2p16.1-P15 Deletion Syndrome

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

# Title Authors Year
1
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. ( 28573701 )
2017
2
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. ( 27699255 )
2016
3
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. ( 23303641 )
2013
4
Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. ( 22579565 )
2012

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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