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Atlas / Disease / Tetrasomy 9p

Tetrasomy 9p

disease
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Also known as Chromosome 9, Tetrasomy 9pchromosome 9p tetrasomyIsochromosome 9pMosaic tetrasomy 9ptetrasomy of short arm of chromosome 9tetrasomy type 9p

Summary

Tetrasomy 9p (MONDO:0018030) is a disease with 1 cohort gene.

At a glance

  • Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
  • Cohort genes: 1
  • ClinVar variants: 1
  • Phenotypes (HPO): 82

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Cases/families70WorldwideValidated
Point prevalence<1 / 1 000 000WorldwideValidated

Signs & symptoms

Clinical features (HPO)

82 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO IDTermFrequency
HP:0000444Convex nasal ridgeFrequent (30-79%)
HP:0000316HypertelorismFrequent (30-79%)
HP:0000347MicrognathiaFrequent (30-79%)
HP:0000363Abnormality of earlobeFrequent (30-79%)
HP:0000486StrabismusFrequent (30-79%)
HP:0000490Deeply set eyeFrequent (30-79%)
HP:0000494Downslanted palpebral fissuresFrequent (30-79%)
HP:0000545MyopiaFrequent (30-79%)
HP:0000646AmblyopiaFrequent (30-79%)
HP:0000750Delayed speech and language developmentFrequent (30-79%)
HP:0001263Global developmental delayFrequent (30-79%)
HP:0030434PilomatrixomaFrequent (30-79%)
HP:0009099Median cleft palateOccasional (5-29%)
HP:0000010Recurrent urinary tract infectionsOccasional (5-29%)
HP:0000028CryptorchidismOccasional (5-29%)
HP:0000110Renal dysplasiaOccasional (5-29%)
HP:0000126HydronephrosisOccasional (5-29%)
HP:0000175Cleft palateOccasional (5-29%)
HP:0000193Bifid uvulaOccasional (5-29%)
HP:0000218High palateOccasional (5-29%)
HP:0000238HydrocephalusOccasional (5-29%)
HP:0000239Large fontanellesOccasional (5-29%)
HP:0000286EpicanthusOccasional (5-29%)
HP:0000414Bulbous noseOccasional (5-29%)
HP:0000470Short neckOccasional (5-29%)
HP:0000532Chorioretinal abnormalityOccasional (5-29%)
HP:0000577ExotropiaOccasional (5-29%)
HP:0000639NystagmusOccasional (5-29%)
HP:0000678Dental crowdingOccasional (5-29%)
HP:0000682Abnormality of dental enamelOccasional (5-29%)
HP:0000789InfertilityOccasional (5-29%)
HP:0000798OligozoospermiaOccasional (5-29%)
HP:0000882Hypoplastic scapulaeOccasional (5-29%)
HP:0000921Missing ribsOccasional (5-29%)
HP:0000952JaundiceOccasional (5-29%)
HP:0000960Sacral dimpleOccasional (5-29%)
HP:0001250SeizureOccasional (5-29%)
HP:0001290Generalized hypotoniaOccasional (5-29%)
HP:0001302PachygyriaOccasional (5-29%)
HP:0001305Dandy-Walker malformationOccasional (5-29%)
HP:0001328Specific learning disabilityOccasional (5-29%)
HP:0001369ArthritisOccasional (5-29%)
HP:0001373Joint dislocationOccasional (5-29%)
HP:0001511Intrauterine growth retardationOccasional (5-29%)
HP:0001528HemihypertrophyOccasional (5-29%)
HP:0001633Abnormal mitral valve morphologyOccasional (5-29%)
HP:0001671Abnormal cardiac septum morphologyOccasional (5-29%)
HP:0001701PericarditisOccasional (5-29%)
HP:0001762Talipes equinovarusOccasional (5-29%)
HP:0002126PolymicrogyriaOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical nametetrasomy 9p
Mondo IDMONDO:0018030
MeSHC538027
Orphanet3310
ICD-111426428869
SNOMED CT715530004
UMLSC0795832
MedGen162876
GARD0000042
NORD964
Is cancer (heuristic)no

Also known as: Chromosome 9, Tetrasomy 9p · chromosome 9p tetrasomy · Isochromosome 9p · Mosaic tetrasomy 9p · tetrasomy of short arm of chromosome 9 · tetrasomy type 9p

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication › partial trisomy/tetrasomy of chromosome 9 › syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 › tetrasomy 9p

Related subtypes (1): trisomy 9p

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
1703570GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)SAXO1Pathogenicno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SAXO1HGNC:28566ENSG00000155875Q8IYX7Stabilizer of axonemal microtubules 1clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SAXO1Stabilizer of axonemal microtubules 1May play a role in the regulation of cilium length.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Other/Unknown11.8×0.558

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SAXO1Other/UnknownnoSAXO1/2

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
left testis1
oocyte1
secondary oocyte1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SAXO157broadyessecondary oocyte, oocyte, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
SAXO11,102

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
SAXO1Q8IYX767.51

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
cold acclimation15617.3×9e-04SAXO1
cellular response to cold11053.2×0.002SAXO1
positive regulation of cilium assembly1766.0×0.002SAXO1
cell projection organization1374.5×0.003SAXO1
protein stabilization166.9×0.015SAXO1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
SAXO100

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1SAXO1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
SAXO10—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 66

This page pulls from 66 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgwasgwas_studyhgncicd11intactinterpromedgenmeshmimmondomondochildmondoparentnordorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot