MCID: CHR518
MIFTS: 37

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 58 12 13 15 74
Monosomy 9p Syndrome 58 12
Alfi Syndrome 12 60
Monosomy 9p 54 60
Chromosome 9, Partial Trisomy 9p 74
Chromosome 9p Deletion 54
9p Deletion Syndrome 60
Partial Monosomy 9p 54
9p- Syndrome 60
9p Syndrome 12
9p Deletion 54
9p Monosomy 54
Deletion 9p 54

Characteristics:

OMIM:

58
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:

33
chromosome 9p deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 9p Deletion Syndrome

NIH Rare Diseases : 54 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 tetrasomy 9p and 46,xy sex reversal 4. An important gene associated with Chromosome 9p Deletion Syndrome is DEL9P (Chromosome 9p Deletion Syndrome). Affiliated tissues include heart, testes and bone, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 A chromosome 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.

Description 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 51)
# Related Disease Score Top Affiliating Genes
1 tetrasomy 9p 11.4
2 46,xy sex reversal 4 11.3
3 distal monosomy 9p 11.3
4 renal cell carcinoma, nonpapillary 10.2
5 clear cell renal cell carcinoma 10.2
6 chromosome 4q duplication 10.2
7 chromosomal triplication 10.1
8 xp22.3 microdeletion syndrome 10.1
9 glaucoma 3, primary infantile, b 10.0
10 west syndrome 10.0
11 primary congenital glaucoma 10.0
12 hypothyroidism 10.0
13 epilepsy 10.0
14 achalasia 10.0
15 chromosome 1p duplication 10.0
16 chromosome 20p duplication 10.0
17 chromosome 7p duplication 10.0
18 ring chromosome 9 10.0
19 facioscapulohumeral muscular dystrophy 1 9.9
20 gonadal dysgenesis 9.9
21 melanoma 9.9
22 progressive multifocal leukoencephalopathy 9.9
23 muscular dystrophy 9.9
24 hyper ige syndrome 9.9
25 choanal atresia, posterior 9.9
26 glioma susceptibility 1 9.8
27 polydactyly, postaxial, type a1 9.8
28 autism 9.8
29 cryptorchidism, unilateral or bilateral 9.8
30 glaucoma 3, primary congenital, a 9.8
31 46,xy sex reversal 1 9.8
32 polydactyly 9.8
33 cerebral palsy 9.8
34 lymphoblastic lymphoma 9.8
35 autism spectrum disorder 9.8
36 lymphoma 9.8
37 heart disease 9.8
38 duane retraction syndrome 9.8
39 hyperinsulinemic hypoglycemia 9.8
40 46 xy gonadal dysgenesis 9.8
41 glioblastoma multiforme 9.8
42 hypoglycemia 9.8
43 chromosome 9 inversion 9.8
44 glioblastoma 9.8
45 hunter-mcalpine syndrome 9.8
46 isolated duane retraction syndrome 9.8
47 46,xy partial gonadal dysgenesis 9.8
48 hepatoblastoma 9.8
49 47,xyy 9.8
50 chromosome 9p duplication 9.8

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:

60 33 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
5 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
6 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
7 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
8 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
9 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
10 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
11 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
12 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
13 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
14 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
15 webbed neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000465
16 low posterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0002162
17 trigonocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000243
18 abnormality of the antihelix 60 33 hallmark (90%) Very frequent (99-80%) HP:0009738
19 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
20 proximal placement of thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009623
21 anotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0009892
22 thin nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001816
23 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
24 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
25 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
26 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
27 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
28 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
29 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
30 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
31 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
32 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
33 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
34 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
35 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
36 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
37 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
38 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
39 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
40 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
41 synophrys 60 33 frequent (33%) Frequent (79-30%) HP:0000664
42 abnormality of the tarsal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001850
43 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
44 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
45 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
46 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
47 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
48 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
49 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
50 ureteropelvic junction obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0000074

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
myopia
epicanthal folds
high-arched eyebrows
upslanting palpebral fissures
more
Head And Neck Neck:
short neck

Abdomen External Features:
inguinal hernia
omphalocele

Head And Neck Nose:
anteverted nares
choanal atresia
flat nasal bridge

Cardiovascular Vascular:
patent ductus arteriosus

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

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 Ears:
low-set ears
posteriorly angulated ears
malformed ears

Skeletal Spine:
scoliosis

Skeletal Feet:
pes planus

Head And Neck Face:
long philtrum
micrognathia
midface hypoplasia

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

Genitourinary External Genitalia Male:
hypospadias
micropenis

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

Chest Breasts:
widely spaced nipples

Skeletal Hands:
tapering fingers

Clinical features from OMIM:

158170

Drugs & Therapeutics for Chromosome 9p Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 9p Deletion Syndrome

Genetic Tests for Chromosome 9p Deletion Syndrome

Anatomical Context for Chromosome 9p Deletion Syndrome

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

42
Heart, Testes, Bone, Skin

Publications for Chromosome 9p Deletion Syndrome

Articles related to Chromosome 9p Deletion Syndrome:

# Title Authors Year
1
Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature. ( 27222354 )
2016
2
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. ( 22821627 )
2012
3
Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. ( 19396833 )
2009
4
Further refinement of the candidate region for monosomy 9p syndrome. ( 17853473 )
2007
5
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. ( 16419130 )
2006
6
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. ( 9730618 )
1998
7
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ( 9718353 )
1998
8
Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome. ( 6985017 )
1982
9
Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome. ( 487636 )
1979

Variations for Chromosome 9p Deletion Syndrome

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

Molecular functions related to Chromosome 9p Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 CER1 DMRT1 TYRP1

Sources for Chromosome 9p 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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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