MCID: CHR518
MIFTS: 36

Chromosome 9p Deletion Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 9p Deletion Syndrome

MalaCards integrated aliases for Chromosome 9p Deletion Syndrome:

Name: Chromosome 9p Deletion Syndrome 57 12 13 15 73
Monosomy 9p Syndrome 57 12
Alfi Syndrome 12 59
Monosomy 9p 53 59
Chromosome 9, Partial Trisomy 9p 73
Chromosome 9p Deletion 53
9p Deletion Syndrome 59
Partial Monosomy 9p 53
9p- Syndrome 59
9p Syndrome 12
9p Deletion 53
9p Monosomy 53
Deletion 9p 53

Characteristics:

OMIM:

57
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:

32
chromosome 9p deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 9p Deletion Syndrome

NIH Rare Diseases : 53 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 skin, 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 all 19)
# Related Disease Score Top Affiliating Genes
1 tetrasomy 9p 11.3
2 46,xy sex reversal 4 11.1
3 distal monosomy 9p 11.1
4 chromosome 9p duplication 10.0
5 renal cell carcinoma, nonpapillary 9.9
6 clear cell renal cell carcinoma 9.9
7 chromosome 20p duplication 9.9
8 hypothyroidism 9.8
9 ring chromosome 9 9.8
10 facioscapulohumeral muscular dystrophy 1 9.8
11 melanoma 9.8
12 progressive multifocal leukoencephalopathy 9.8
13 muscular dystrophy 9.8
14 choanal atresia, posterior 9.8
15 glaucoma 3, primary congenital, a 9.7
16 duane retraction syndrome 9.7
17 hyperinsulinemic hypoglycemia 9.7
18 dementia 9.6
19 hepatoblastoma 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome 9p Deletion Syndrome:

59 32 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
5 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
6 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
7 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
8 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
10 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
11 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
14 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
15 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
16 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
17 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
18 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
19 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
20 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
21 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
22 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
23 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
24 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
25 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
26 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
27 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
28 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
29 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
30 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
31 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
32 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
33 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
34 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
35 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
36 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
37 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
38 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
39 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
40 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
41 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
42 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
43 ambiguous genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000062
44 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
45 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
46 ureteropelvic junction obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000074
47 atresia of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000413
48 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
49 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
50 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243

MGI Mouse Phenotypes related to Chromosome 9p Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 CER1 FREM1 TYRP1

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:

41
Heart, Testes, Skin, Bone

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

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 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
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