MCID: CHR518
MIFTS: 39

Chromosome 9p Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 9p Deletion Syndrome

MalaCards integrated aliases for Chromosome 9p Deletion Syndrome:

Name: Chromosome 9p Deletion Syndrome 57 12 29 13 6 15 70
Monosomy 9p Syndrome 57 12
Alfi Syndrome 12 58
Monosomy 9p 20 58
Chromosome 9, Partial Trisomy 9p 70
Chromosome 9p Deletion 20
9p Deletion Syndrome 58
Partial Monosomy 9p 20
9p- Syndrome 58
9p Syndrome 12
9p Deletion 20
9p Monosomy 20
Deletion 9p 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
approximately half of cases are due to de novo deletions
approximately half of cases are due to unbalanced rearrangements, which may be familial


HPO:

31
chromosome 9p deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 9p Deletion Syndrome

GARD : 20 Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing ( deleted ) copy of genetic material on the short arm (p) of chromosome 9. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include developmental delay, low muscle tone ( hypotonia ), distinctive facial features, heart conditions, scoliosis, and/or genital abnormalities. Chromosome testing of both parents can provide more information on whether the deletion was inherited. In about half of cases, the deletion occurs sporadically and neither parent has a chromosome abnormality. In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features). Treatment for chromosome 9p deletion is based on the signs and symptoms in each person. This page is meant to provide general information about 9p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 9p. To learn more about chromosome abnormalities, please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 9p Deletion Syndrome, also known as monosomy 9p syndrome, is related to gonadoblastoma and 46,xy sex reversal. An important gene associated with Chromosome 9p Deletion Syndrome is DEL9P (Chromosome 9p Deletion Syndrome). Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and high palate

Disease Ontology : 12 A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has material basis in a contiguous gene deletion on the short arm of chromosome 9.

More information from OMIM: 158170

Related Diseases for Chromosome 9p Deletion Syndrome

Diseases related to Chromosome 9p Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 gonadoblastoma 30.1 DMRT3 DMRT1
2 46,xy sex reversal 29.9 DOCK8 DMRT3 DMRT1
3 cerebral palsy 28.9 KANK1 FOXD4 DOCK8 DMRT3
4 distal monosomy 9p 11.3
5 46,xy sex reversal 4 11.2
6 tetrasomy 9p 11.0
7 chromosomal triplication 10.4
8 chromosome 9p duplication 10.3
9 spermatocytoma 10.1 DMRT3 DMRT1
10 chromosome 4q duplication 10.1
11 intraocular pressure quantitative trait locus 10.1
12 kleefstra syndrome 1 10.0 FREM1 CER1
13 hyperinsulinemic hypoglycemia, familial, 5 10.0
14 hyperinsulinemic hypoglycemia, familial, 4 10.0
15 disorder of sexual development 10.0
16 hyperinsulinism 10.0
17 hypoglycemia 10.0
18 ring chromosome 9 10.0
19 ring chromosome 10.0
20 46,xy sex reversal 1 10.0
21 gonadal dysgenesis 10.0
22 46,xy partial gonadal dysgenesis 10.0
23 atrial heart septal defect 10.0
24 renal cell carcinoma, nonpapillary 10.0
25 facioscapulohumeral muscular dystrophy 1 10.0
26 oral squamous cell carcinoma 10.0
27 omphalocele 10.0
28 hyper ige syndrome 10.0
29 hypospadias 10.0
30 clear cell renal cell carcinoma 10.0
31 progressive multifocal leukoencephalopathy 10.0
32 muscular dystrophy 10.0
33 oral cancer 10.0
34 gilles de la tourette syndrome 9.9
35 obsessive-compulsive disorder 9.9
36 strabismus 9.9
37 down syndrome 9.9
38 mckusick-kaufman syndrome 9.9
39 retinitis pigmentosa 11 9.9
40 macrostomia, isolated 9.9
41 west syndrome 9.9
42 primary congenital glaucoma 9.9
43 hydronephrosis 9.9
44 clubfoot 9.9
45 spinal muscular atrophy 9.9
46 hypothyroidism 9.9
47 hypogonadism 9.9
48 craniosynostosis 9.9
49 tic disorder 9.9
50 muscular atrophy 9.9

Graphical network of the top 20 diseases related to Chromosome 9p Deletion Syndrome:



Diseases related to Chromosome 9p Deletion Syndrome

Symptoms & Phenotypes for Chromosome 9p Deletion Syndrome

Human phenotypes related to Chromosome 9p Deletion Syndrome:

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
7 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
8 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
9 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
10 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
13 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
14 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
15 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
16 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
17 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
18 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
19 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
20 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
21 thin nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001816
22 anotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009892
23 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
24 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
25 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
26 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
27 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
28 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
29 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
30 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
31 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
32 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
33 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
34 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
35 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
36 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
37 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
38 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
39 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
40 abnormality of the tarsal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001850
41 seizure 31 frequent (33%) HP:0001250
42 hypotonia 31 frequent (33%) HP:0001252
43 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
44 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
45 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
46 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
47 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
48 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
49 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
50 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Abdomen External Features:
inguinal hernia
omphalocele

Skeletal Feet:
pes planus

Head And Neck Face:
micrognathia
long philtrum
midface hypoplasia

Head And Neck Mouth:
high, narrow palate
thin upper lip
microstomia

Genitourinary External Genitalia Male:
micropenis
hypospadias

Head And Neck Head:
trigonocephaly

Skin Nails Hair Hair:
high-arched eyebrows
brown or blond hair

Skin Nails Hair Nails:
hyperconvex nails

Skin Nails Hair Skin:
pale skin

Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism
myopia
epicanthal folds
high-arched eyebrows
upslanting palpebral fissures
more
Head And Neck Nose:
anteverted nares
choanal atresia
flat nasal bridge

Head And Neck Ears:
low-set ears
posteriorly angulated ears
malformed ears

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
heart murmurs
congenital cardiac malformations

Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
hypotonia
mental retardation
speech delay
delayed psychomotor development

Chest Breasts:
widely spaced nipples

Skeletal Hands:
tapering fingers

Clinical features from OMIM®:

158170 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 9p Deletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome Recruiting NCT04586400

Search NIH Clinical Center for Chromosome 9p Deletion Syndrome

Genetic Tests for Chromosome 9p Deletion Syndrome

Genetic tests related to Chromosome 9p Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 9p Deletion Syndrome 29

Anatomical Context for Chromosome 9p Deletion Syndrome

MalaCards organs/tissues related to Chromosome 9p Deletion Syndrome:

40
Heart, Kidney

Publications for Chromosome 9p Deletion Syndrome

Articles related to Chromosome 9p Deletion Syndrome:

(show all 27)
# Title Authors PMID Year
1
Further refinement of the candidate region for monosomy 9p syndrome. 57 61
17853473 2007
2
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. 61 57
16419130 2006
3
Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome. 57 61
6985017 1982
4
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 57
21931569 2011
5
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. 57
19417767 2009
6
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 57
18452192 2008
7
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. 57
10521304 1999
8
Choanal atresia in a patient with the deletion (9p) syndrome. 57
8172257 1994
9
Eleven new cases of del(9p) and features from 80 cases. 57
3070043 1988
10
Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome. 57
4541805 1973
11
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. 61
32832699 2019
12
Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis. 61
28040136 2016
13
Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature. 61
27222354 2016
14
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. 61
26082802 2015
15
A case of 9p deletion syndrome with Duane retraction syndrome. 61
27625822 2012
16
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 61
22821627 2012
17
Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation. 61
22555022 2012
18
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly. 61
22876577 2012
19
Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation. 61
20974486 2011
20
Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. 61
19396833 2009
21
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. 61
18651096 2008
22
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. 61
17644778 2007
23
Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization. 61
16222686 2005
24
Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p. 61
11913572 2002
25
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. 61
9718353 1998
26
The INSL4 gene maps close to WI-5527 at 9p24.1-->p23.3 clustered with two relaxin genes and outside the critical region for the monosomy 9p syndrome. 61
9730618 1998
27
Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome. 61
487636 1979

Variations for Chromosome 9p Deletion Syndrome

ClinVar genetic disease variations for Chromosome 9p Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 8 genes Deletion Pathogenic 917492 GRCh37:
GRCh38: 9:1-190938
2 overlap with 53 genes GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Pathogenic 981212 GRCh37: 9:204193-18073357
GRCh38:
3 overlap with 9 genes GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1 copy number loss Pathogenic 981213 GRCh37: 9:13638428-17121764
GRCh38:

Expression for Chromosome 9p Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 9p Deletion Syndrome.

Pathways for Chromosome 9p Deletion Syndrome

GO Terms for Chromosome 9p Deletion Syndrome

Biological processes related to Chromosome 9p Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sex differentiation GO:0007548 8.96 DMRT3 DMRT1
2 male sex differentiation GO:0046661 8.62 DMRT3 DMRT1

Sources for Chromosome 9p Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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