MCID: CHR396
MIFTS: 34

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 56 12 13 15 71
2p15p16.1 Microdeletion Syndrome 12 52 58
2p15-P16.1 Microdeletion Syndrome 12 52
Monosomy 2p15p16.1 52 58
Del(2)(p15p16.1) 52 58
Monosomy 2p15-P16.1 52

Characteristics:

Orphanet epidemiological data:

58
2p15p16.1 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
isolated cases

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


HPO:

31
chromosome 2p16.1-p15 deletion syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 2p16.1-P15 Deletion Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261349 Definition 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Epidemiology It has been clinically and molecularly characterized in 5 patients. Clinical description Dysmorphic 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. Etiology This 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 bcl11a-related intellectual disability. An important gene associated with Chromosome 2p16.1-P15 Deletion Syndrome is DEL2P16.1-P15 (Chromosome 2p16.1-P15 Deletion Syndrome). Affiliated tissues include brain, cerebellum and kidney, and related phenotypes are ptosis and high palate

OMIM : 56 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder with persistence of fetal hemoglobin 11.4
2 bcl11a-related intellectual disability 10.5
3 alacrima, achalasia, and mental retardation syndrome 10.4
4 bile duct cysts 10.2
5 visual epilepsy 10.2
6 craniosynostosis 10.2
7 hypotonia 10.2
8 seizure disorder 10.2
9 motor stereotypies 10.2
10 autism 10.2
11 autism spectrum disorder 10.2
12 microcephaly 10.2
13 meningocele 9.9 USP34 SNORA70B
14 hemoglobinopathy 9.7 CFAP47 BCL11A
15 primary mediastinal b-cell lymphoma 9.5 XPO1 BCL11A
16 peroxisome biogenesis disorder 11a 9.3 XPO1 PAPOLG BCL11A

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:

58 31 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
7 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
8 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
10 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
13 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
14 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
15 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
16 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
17 optic nerve hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000609
18 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
21 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
22 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
23 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
24 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
25 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
26 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
27 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
28 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
29 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
30 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
31 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
32 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
33 metatarsus adductus 58 31 frequent (33%) Frequent (79-30%) HP:0001840
34 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
35 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
36 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
37 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
38 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
39 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
40 prominent nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0005274
41 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
42 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
43 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
44 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
45 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
46 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
47 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
48 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
49 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
50 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023

Symptoms via clinical synopsis from OMIM:

56
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
Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Head:
microcephaly
brachycephaly

Skeletal Feet:
metatarsus adductus
calcaneovalgus

Genitourinary Kidneys:
hydronephrosis

Skeletal Hands:
arachnodactyly
camptodactyly

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

Muscle Soft Tissue:
hypotonia

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

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small testes

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

Endocrine Features:
hypogonadism

Neurologic Central Nervous System:
hypoplasia of the pons
hypoplasia of the corpus callosum
pachygyria
cerebral atrophy
cortical dysplasia
more
Voice:
nasal speech

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

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

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:

40
Brain, Cerebellum, Kidney, Testes, Pons, B Cells

Publications for Chromosome 2p16.1-P15 Deletion Syndrome

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

(show all 16)
# Title Authors PMID Year
1
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment. 56
26019277 2015
2
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. 56
25979662 2015
3
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. 56
25938782 2015
4
De novo microdeletion of BCL11A is associated with severe speech sound disorder. 56
24810580 2014
5
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 56
22406401 2012
6
Deletion 2p15-16.1 syndrome: case report and review. 56
21910216 2011
7
Further characterization of microdeletion syndrome involving 2p15-p16.1. 56
20799320 2010
8
A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion. 56
19724011 2009
9
The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15. 56
18310269 2008
10
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. 56
18245392 2008
11
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. 56
16963482 2007
12
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. 61
28573701 2017
13
Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. 61
28717667 2017
14
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. 61
27699255 2016
15
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. 61
23303641 2013
16
Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. 61
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

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

Sources for Chromosome 2p16.1-P15 Deletion Syndrome

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