Anauxetic dysplasia 1

Summary

Anauxetic dysplasia 1 (MONDO:0054560) is a disease with 2 cohort genes.

At a glance

• Cohort genes: 2
• ClinVar variants: 58

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	anauxetic dysplasia 1
Mondo ID	MONDO:0054560
OMIM	607095
DOID	DOID:0050640
UMLS	C4551965
MedGen	1638106
GARD	0025948
Is cancer (heuristic)	no

Also known as: anauxetic dysplasia 1 · ANXD1

Data availability: 58 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › spondyloepiphyseal dysplasia › anauxetic dysplasia › anauxetic dysplasia 1

Related subtypes (2): anauxetic dysplasia 3, anauxetic dysplasia 2

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

58 retrieved; paginated sample, class counts are floors:

27 uncertain significance, 13 pathogenic/likely pathogenic, 8 likely pathogenic, 6 pathogenic, 4 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
14208	NR_003051.4(RMRP):n.72A>G	CCDC107	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067429	NR_003051.4(RMRP):n.129G>A	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14209	NR_003051.4(RMRP):n.264G>T	RMRP	Pathogenic	reviewed by expert panel
14210	NR_003051.3(RMRP):n.-22_-13dup10	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14211	NR_003051.3(RMRP):n.-24_-10dup15	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14214	NR_003051.4(RMRP):n.-18_-2dup	RMRP	Pathogenic	criteria provided, multiple submitters, no conflicts
14225	NR_003051.4(RMRP):n.113_114insACGTAGACATTCCT	RMRP	Pathogenic	no assertion criteria provided
14226	NC_000009.12:g.35658004C>T	RMRP	Pathogenic	criteria provided, single submitter
189086	NR_003051.3(RMRP):n.64C>T	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
487440	NR_003051.3(RMRP):n.-7_1dupAGGACGTG	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
533761	NR_003051.4(RMRP):n.37C>T	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
550387	NR_003051.4(RMRP):n.-21_-2dup	RMRP	Pathogenic	criteria provided, multiple submitters, no conflicts
551168	NR_003051.3(RMRP):n.-13_-2dup	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
552477	NR_003051.4(RMRP):n.6C>T	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
552639	NR_003051.3(RMRP):n.-26_-10dup	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
556583	NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
632969	NR_003051.3(RMRP):n.-24_-4dup	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
633393	NR_003051.4(RMRP):n.197C>T	RMRP	Pathogenic	reviewed by expert panel
647397	NR_003051.4(RMRP):n.-21_-13dup	RMRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
379208	NC_000009.12:g.35657872C>T	RMRP	Likely pathogenic	reviewed by expert panel
465208	NR_003051.4(RMRP):n.256_265delCTCAGCGCGG	RMRP	Likely pathogenic	reviewed by expert panel
487451	NR_003051.4(RMRP):n.244A>G	RMRP	Likely pathogenic	reviewed by expert panel
552376	NR_003051.4(RMRP):n.256C>G	RMRP	Likely pathogenic	criteria provided, single submitter
557941	NR_003051.3(RMRP):n.-20_-10dup	RMRP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
580378	NR_003051.4(RMRP):n.220A>G	RMRP	Likely pathogenic	reviewed by expert panel
928882	NR_003051.4(RMRP):n.195G>A	RMRP	Likely pathogenic	reviewed by expert panel
974953	NR_003051.3(RMRP):n.-20_-7dup14	RMRP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1385427	NR_003051.3(RMRP):n.-24_-1dup	RMRP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
14227	NR_003051.4(RMRP):n.92_93delAGinsGC	RMRP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
465201	NR_003051.4(RMRP):n.129G>C	RMRP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RMRP	Orphanet:175	Cartilage-hair hypoplasia
RMRP	Orphanet:39041	Omenn syndrome
RMRP	Orphanet:93347	Anauxetic dysplasia

Cohort genes → proteins

2 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RMRP	HGNC:10031	ENSG00000277027		RNA component of mitochondrial RNA processing endoribonuclease	clinvar
CCDC107	HGNC:28465	ENSG00000159884	Q8WV48	Coiled-coil domain-containing protein 107	clinvar

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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.

Family	Genes	Fold	FDR
Other/Unknown	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RMRP	Other/Unknown	no
CCDC107	Other/Unknown	no		CCDC107

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)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bone marrow cell	1
colonic epithelium	1
corpus callosum	1
aorta	1
popliteal artery	1
tibial artery	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RMRP	128	ubiquitous	yes	corpus callosum, colonic epithelium, bone marrow cell
CCDC107	254	ubiquitous	marker	popliteal artery, tibial artery, aorta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CCDC107	1,093
RMRP	0

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CCDC107	Q8WV48	61.31

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 evidence-associated genes (0 with Reactome annotation).

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 2 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RMRP	0	0
CCDC107	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	RMRP, CCDC107

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
RMRP	0	—
CCDC107	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.