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Atlas / Disease / Speech disorder

Speech disorder

disease
On this page

Also known as speech impediment or impairment

Summary

Speech disorder (MONDO:0004730) is a disease with 1 cohort gene and 35 clinical trials. Top therapeutic interventions include rotigotine and ecopipam.

At a glance

  • Cohort genes: 1
  • Clinical trials: 35

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namespeech disorder
Mondo IDMONDO:0004730
MeSHD013064
DOIDDOID:92
NCITC5041
SNOMED CT47004009
UMLSC0037822
MedGen11531
Is cancer (heuristic)no

Also known as: speech impediment or impairment

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › specific developmental disorder › communication disorder › speech disorder

Related subtypes (1): language disorder

Subtypes (4): stutter disorder, articulation disorder, echolalia, mutism

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
ATP2C2LimitedAutosomal dominantspeech disorder

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
ATP2C2HGNC:29103ENSG00000064270O75185Calcium-transporting ATPase type 2C member 2gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
ATP2C2Calcium-transporting ATPase type 2C member 2ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor18.3×0.121

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
ATP2C2Transcription factorno7.2.2.10P_typ_ATPase, ATPase_P-typ_cation-transptr_N, ATPase_P-typ_cation-transptr_C

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

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
mucosa of sigmoid colon1
mucosa of transverse colon1
rectum1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
ATP2C2210broadmarkerrectum, mucosa of transverse colon, mucosa of sigmoid colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
ATP2C21,801

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ATP2C2O7518581.13

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways 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.

PathwayCohort genesFoldFDRSample cohort genes
Ion transport by P-type ATPases1207.6×0.014ATP2C2
Ion channel transport196.0×0.016ATP2C2
Transport of small molecules125.1×0.040ATP2C2

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
manganese ion transport12106.5×0.002ATP2C2
mammary gland epithelium development11872.4×0.002ATP2C2
positive regulation of calcium ion import1936.2×0.002ATP2C2
calcium ion transmembrane transport1210.7×0.007ATP2C2
intracellular calcium ion homeostasis1145.3×0.008ATP2C2
protein localization to plasma membrane1108.7×0.009ATP2C2

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
ATP2C200

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
ATP2C27.2.2.10P-type Ca2+ transporter

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 drug1ATP2C2

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
ATP2C20—

Clinical trials & evidence

Clinical trials

Clinical trials: 35.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified32
PHASE22
PHASE2/PHASE31

Top trials by phase / activity

NCTPhaseStatusTitle
NCT02909088PHASE2/PHASE3UNKNOWNEfficacy and Tolerability of Ecopipam in Adults With Childhood Onset Fluency Disorder (Stuttering).
NCT04323085PHASE2UNKNOWNSpeech-in-Noise Treatments for Hypophonia in Parkinson’s Disease
NCT04937452PHASE2COMPLETEDDopaminergic Therapy for Frontotemporal Dementia Patients
NCT04117360Not specifiedRECRUITINGOrthognathic Speech Pathology: Phonetic Contrasts of Patients With Dental Discrepancies Pre- and Post-Treatment Analyses
NCT05489965Not specifiedRECRUITINGGender Disparities in Voice Outcomes After Tracheoesophageal Puncture in Total Laryngectomy Patients (UC Davis)
NCT05695131Not specifiedRECRUITINGClinical Feasibility & Validation of the Virtual Reality GlenxRose Speech-Language Therapies
NCT05741853Not specifiedRECRUITINGCognitive Reserve and Response to Speech-Language Intervention in Bilingual Speakers With Primary Progressive Aphasia
NCT06443073Not specifiedRECRUITINGThe Mere-measurement Effect of Patient-reported Outcomes
NCT06874322Not specifiedRECRUITINGVoiceitt for People With Impairments in Speech
NCT06913517Not specifiedACTIVE_NOT_RECRUITINGEffect of Hearing Aid Versus Cochlear Implant on Hearing and Speech Recognition in Children
NCT07264036Not specifiedRECRUITINGVelopharyngeal Dysfunction in Head & Neck Cancer Patients, Pilot Study
NCT00001167Not specifiedCOMPLETEDUltrasound Evaluation of Tongue Movements in Speech and Swallowing
NCT00001218Not specifiedCOMPLETEDDevelopment of Normative Ultrasound Databases of Tongue Surface Configuration
NCT00001448Not specifiedCOMPLETEDThe Effect of Oral Candidiasis on the Speech Production, Feeding Skills, and Self-Concept of Children and Adolescents With Symptomatic HIV Infection
NCT00001551Not specifiedCOMPLETEDCharacteristics of Idiopathic Familial Speech Disorders
NCT00125216Not specifiedCOMPLETEDEvaluation of the Effects of Response Elaboration Training for Aphasia
NCT00125242Not specifiedCOMPLETEDWord-Retrieval Treatment for Aphasia: Semantic Feature Analysis
NCT01180309Not specifiedCOMPLETEDLingual Frenum and Articulation of Phonemes
NCT02288598Not specifiedCOMPLETEDEnhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering
NCT02416856Not specifiedCOMPLETEDBrain Connectivity Supporting Language Recovery in Aphasia
NCT02490826Not specifiedCOMPLETEDTable to Tablet (T2T): A Novel Intervention Framework for Children With Speech Sound Disorders
NCT02554513Not specifiedCOMPLETEDApraxia of Speech: Comparison of EPG Treatment (Tx) and Sound Production Treatment (SPT)
NCT02752425Not specifiedCOMPLETEDVisual Feedback of Tongue by Ultrasound Echography for Speech Trouble Rehabilitation
NCT03663972Not specifiedCOMPLETEDAge-related Correlates of Treatment for Late-acquired Sounds
NCT04009811Not specifiedCOMPLETEDA New Membrane Obturator Prothesis Concept for Soft Palate Defects
NCT04026581Not specifiedCOMPLETEDReal World Testing of a Brain-Computer Interface
NCT04528147Not specifiedUNKNOWNYi Jin Jing Tiger Roaring Speech Rehabilitation With Real-Time Feedback Technique for PD
NCT04690166Not specifiedCOMPLETEDValidation of the Turkish Translation of the London Speech Evaluation Scale
NCT04762043Not specifiedCOMPLETEDMyoVoice to Restore Natural, Hands-free Communication to Individuals With Vocal Impairments
NCT04966689Not specifiedCOMPLETEDThe Effect of Combined Speech and Music-therapy on the Speech Characteristics of People With Parkinson’s Disease (PD)
NCT05369663Not specifiedCOMPLETEDPersonal Protective Equipment Effects
NCT05876247Not specifiedUNKNOWNArticulatory Adaptation Following Oral Cancer Treatment
NCT06114914Not specifiedUNKNOWNTapTalkTest Project:Development of a Non-invasive Screening Test to Detect Risk of Alzheimer’s Disease Pathology
NCT06633874Not specifiedCOMPLETEDSmart Computing Models, Sensors, and Early Diagnostic Speech and Language Deficiencies Indicators in Child Communication
NCT07330687Not specifiedCOMPLETEDNeural Changes After Speech Therapy in Patients With Cleft Palate: A Brain Imaging Study

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ROTIGOTINE41
ECOPIPAM31
CHEMBL10438301

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_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot