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Atlas / Disease / microphthalmia, Lenz type

microphthalmia, Lenz type

disease
On this page

Also known as Lenz dysplasiaLenz microphthalmiaLenz microphthamia syndromeMAA (formerly)MCOPS1microphthalmia Lenz typemicrophthalmia or anophthalmos with associated anomalies (formerly)microphthalmia syndromic 1syndromic microphthalmia type 1

Summary

microphthalmia, Lenz type (MONDO:0018924) is a disease with 2 cohort genes.

At a glance

  • Prevalence: Unknown (Worldwide)
  • Cohort genes: 2
  • Phenotypes (HPO): 42

Clinical features

Signs & symptoms

Clinical features (HPO)

42 HPO clinical features (Orphanet curated; top 42 by frequency):

HPO IDTermFrequency
HP:0000568MicrophthalmiaVery frequent (80-99%)
HP:0000377Abnormal pinna morphologyFrequent (30-79%)
HP:0000358Posteriorly rotated earsFrequent (30-79%)
HP:0000028CryptorchidismFrequent (30-79%)
HP:0000047HypospadiasFrequent (30-79%)
HP:0000072HydroureterFrequent (30-79%)
HP:0000126HydronephrosisFrequent (30-79%)
HP:0000164Abnormality of the dentitionFrequent (30-79%)
HP:0000202Orofacial cleftFrequent (30-79%)
HP:0000252MicrocephalyFrequent (30-79%)
HP:0000482MicrocorneaFrequent (30-79%)
HP:0000501GlaucomaFrequent (30-79%)
HP:0000567Chorioretinal colobomaFrequent (30-79%)
HP:0000588Optic disc colobomaFrequent (30-79%)
HP:0000612Iris colobomaFrequent (30-79%)
HP:0001249Intellectual disabilityFrequent (30-79%)
HP:0004209Clinodactyly of the 5th fingerFrequent (30-79%)
HP:0004322Short statureFrequent (30-79%)
HP:0006101Finger syndactylyFrequent (30-79%)
HP:0006482Abnormal dental morphologyFrequent (30-79%)
HP:0008678Renal hypoplasia/aplasiaFrequent (30-79%)
HP:0009943Complete duplication of thumb phalanxFrequent (30-79%)
HP:0100490Camptodactyly of fingerFrequent (30-79%)
HP:0000365Hearing impairmentOccasional (5-29%)
HP:0000384Preauricular skin tagOccasional (5-29%)
HP:0000465Webbed neckOccasional (5-29%)
HP:0000505Visual impairmentOccasional (5-29%)
HP:0000518CataractOccasional (5-29%)
HP:0000639NystagmusOccasional (5-29%)
HP:0000684Delayed eruption of teethOccasional (5-29%)
HP:0000889Abnormality of the clavicleOccasional (5-29%)
HP:0001250SeizureOccasional (5-29%)
HP:0002167Abnormality of speech or vocalizationOccasional (5-29%)
HP:0002650ScoliosisOccasional (5-29%)
HP:0002808KyphosisOccasional (5-29%)
HP:0003043Abnormality of the shoulderOccasional (5-29%)
HP:0003307HyperlordosisOccasional (5-29%)
HP:0007370Aplasia/Hypoplasia of the corpus callosumOccasional (5-29%)
HP:0009755AnkyloblepharonOccasional (5-29%)
HP:0030680Abnormal cardiovascular system morphologyOccasional (5-29%)
HP:0100716Self-injurious behaviorOccasional (5-29%)
HP:0100818Long thoraxOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical namemicrophthalmia, Lenz type
Mondo IDMONDO:0018924
Orphanet568
ICD-11678242327
GARD0000087
NORD1359
Is cancer (heuristic)no

Also known as: Lenz dysplasia · Lenz microphthalmia · Lenz microphthamia syndrome · MAA (formerly) · MCOPS1 · microphthalmia Lenz type · microphthalmia or anophthalmos with associated anomalies (formerly) · microphthalmia syndromic 1 · syndromic microphthalmia type 1

Data availability: 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › syndromic microphthalmia › microphthalmia, Lenz type

Related subtypes (18): anophthalmia/microphthalmia-esophageal atresia syndrome, COFS syndrome, microphthalmia, syndromic 2, X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome, microphthalmia, syndromic 1, linear skin defects with multiple congenital anomalies, Matthew-Wood syndrome, MMEP syndrome, microphthalmia with brain and digit anomalies, syndromic microphthalmia type 5, microphthalmia-brain atrophy syndrome, oculoauricular syndrome, microphthalmia, syndromic 11, microphthalmia, syndromic 12, colobomatous microphthalmia-rhizomelic dysplasia syndrome, Behrens Baumann dust syndrome, microphthalmia microtia fetal akinesia, RAB18 deficiency

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: 18 · Orphanet: 6 · 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
BCORDefinitiveX-linkedmicrophthalmia, syndromic 28
NAA10ModerateX-linkedmicrophthalmia, syndromic 110

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
NAA10Orphanet:276432Ogden syndrome
NAA10Orphanet:568Microphthalmia, Lenz type
BCOROrphanet:2712Oculofaciocardiodental syndrome
BCOROrphanet:457246Clear cell sarcoma of kidney
BCOROrphanet:520Acute promyelocytic leukemia
BCOROrphanet:568Microphthalmia, Lenz type

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence2

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
NAA10HGNC:18704ENSG00000102030P41227N-alpha-acetyltransferase 10gencc
BCORHGNC:20893ENSG00000183337Q6W2J9BCL-6 corepressorgencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
NAA10N-alpha-acetyltransferase 10Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity.
BCORBCL-6 corepressorTranscriptional corepressor.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.5

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
Scaffold/PPI18.6×0.160
Enzyme (other)16.0×0.160

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
NAA10Enzyme (other)yes2.3.1.255GNAT_dom, Acyl_CoA_acyltransferase, Ard1-like
BCORScaffold/PPInoAnkyrin_rpt, BCOR, PUFD

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)2
unknown0

Top tissues across cohort

TissueCohort genes
apex of heart1
lower esophagus muscularis layer1
right hemisphere of cerebellum1
buccal mucosa cell1
cortical plate1
ganglionic eminence1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
NAA10288ubiquitousmarkerright hemisphere of cerebellum, apex of heart, lower esophagus muscularis layer
BCOR265ubiquitousmarkerbuccal mucosa cell, ganglionic eminence, cortical plate

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
NAA102,579
BCOR2,188

Intra-cohort edges

ABSources
BCORNAA10biogrid_interaction

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
NAA10P4122712
BCORQ6W2J95

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
specification of axis polarity18426.0×5e-04BCOR
positive regulation of protein refolding18426.0×5e-04NAA10
negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric18426.0×5e-04NAA10
negative regulation of tooth mineralization14213.0×8e-04BCOR
negative regulation of bone mineralization1468.1×0.006BCOR
blastocyst hatching1271.8×0.007BCOR
odontogenesis1263.3×0.007BCOR
roof of mouth development1123.9×0.013BCOR
protein maturation181.8×0.018NAA10
heart development139.4×0.032BCOR
chromatin remodeling136.5×0.032BCOR
negative regulation of DNA-templated transcription115.8×0.068BCOR
negative regulation of transcription by RNA polymerase II18.9×0.110BCOR

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 2 of 2 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
NAA1000
BCOR00

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
NAA102Binding:2
BCOR2Binding:2

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
NAA102.3.1.255, 2.3.1.258, 2.3.1.48N-terminal amino-acid Nalpha-acetyltransferase NatA, N-terminal methionine Nalpha-acetyltransferase NatE, histone acetyltransferase

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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 drug1NAA10
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1BCOR

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
NAA102—
BCOR2—

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 65

This page pulls from 65 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgwasgwas_studyhgncicd11intactinterpromeshmimmondomondochildmondoparentnordorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureuniprot