Idiopathic camptocormia

Summary

Idiopathic camptocormia (MONDO:0015271) is a disease with 3 cohort genes and 1 clinical trial.

At a glance

• Prevalence: Unknown (Worldwide)
• Cohort genes: 3
• ClinVar variants: 3
• Phenotypes (HPO): 33
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

33 HPO clinical features (Orphanet curated; top 33 by frequency):

HPO ID	Term	Frequency
HP:0000707	Abnormality of the nervous system	Frequent (30-79%)
HP:0001332	Dystonia	Frequent (30-79%)
HP:0002059	Cerebral atrophy	Frequent (30-79%)
HP:0002500	Abnormal cerebral white matter morphology	Frequent (30-79%)
HP:0002758	Osteoarthritis	Frequent (30-79%)
HP:0003445	EMG: neuropathic changes	Frequent (30-79%)
HP:0003458	EMG: myopathic abnormalities	Frequent (30-79%)
HP:0005108	Abnormal intervertebral disk morphology	Frequent (30-79%)
HP:0100285	EMG: impaired neuromuscular transmission	Frequent (30-79%)
HP:0000234	Abnormality of the head	Occasional (5-29%)
HP:0001300	Parkinsonism	Occasional (5-29%)
HP:0003236	Elevated circulating creatine kinase concentration	Occasional (5-29%)
HP:0003444	EMG: chronic denervation signs	Occasional (5-29%)
HP:0006959	Proximal spinal muscular atrophy	Occasional (5-29%)
HP:0007354	Amyotrophic lateral sclerosis	Occasional (5-29%)
HP:0012647	Abnormal inflammatory response	Occasional (5-29%)
HP:0100022	Abnormality of movement	Occasional (5-29%)
HP:0002134	Abnormality of the basal ganglia	Very rare (<1-4%)
HP:0002145	Frontotemporal dementia	Very rare (<1-4%)
HP:0002486	Myotonia	Very rare (<1-4%)
HP:0002511	Alzheimer disease	Very rare (<1-4%)
HP:0002715	Abnormality of the immune system	Very rare (<1-4%)
HP:0003396	Syringomyelia	Very rare (<1-4%)
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	Very rare (<1-4%)
HP:0003416	Spinal canal stenosis	Very rare (<1-4%)
HP:0003737	Mitochondrial myopathy	Very rare (<1-4%)
HP:0007361	Abnormality of the pons	Very rare (<1-4%)
HP:0012486	Myelitis	Very rare (<1-4%)
HP:0012548	Fatty replacement of skeletal muscle	Very rare (<1-4%)
HP:0030113	Abnormal muscle fiber dysferlin	Very rare (<1-4%)
HP:0030197	Fatigable weakness of skeletal muscles	Very rare (<1-4%)
HP:0100315	Lewy bodies	Very rare (<1-4%)
HP:0100614	Myositis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	idiopathic camptocormia
Mondo ID	MONDO:0015271
MeSH	C537968
Orphanet	1320
SNOMED CT	13534001
UMLS	C0264162
MedGen	120496
GARD	0001063
MedDRA	10069646
Is cancer (heuristic)	no

Also known as: bent spine · bent spine syndrome · camptocormia · camptocormism · idiopathic camptocormism · idiopathic progressive lumbar kyphosis

Data availability: 3 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › acquired skeletal muscle disease › idiopathic camptocormia

Related subtypes (4): idiopathic dropped head syndrome, macrophagic myofasciitis, acquired idiopathic inflammatory myopathy, acquired rippling muscle disease

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

3 retrieved; paginated sample, class counts are floors:

1 conflicting classifications of pathogenicity, 1 uncertain significance, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
132109	NM_015713.5(RRM2B):c.253_255del (p.Glu85del)	RRM2B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
177697	NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	MYH7	Uncertain significance	reviewed by expert panel
65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 20 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RRM2B	Orphanet:254892	Autosomal dominant progressive external ophthalmoplegia
RRM2B	Orphanet:255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
RRM2B	Orphanet:298	Mitochondrial neurogastrointestinal encephalomyopathy
RRM2B	Orphanet:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
RRM2B	Orphanet:480	Kearns-Sayre syndrome
MYH7	Orphanet:154	Familial isolated dilated cardiomyopathy
MYH7	Orphanet:1880	Ebstein malformation of the tricuspid valve
MYH7	Orphanet:324604	Classic multiminicore myopathy
MYH7	Orphanet:54260	Left ventricular noncompaction
MYH7	Orphanet:59135	Laing distal myopathy
MYH7	Orphanet:636965	Autosomal dominant myosin storage myopathy
MYH7	Orphanet:636970	Autosomal recessive myosin storage myopathy
POLG	Orphanet:254881	Spinocerebellar ataxia with epilepsy
POLG	Orphanet:254886	Autosomal recessive progressive external ophthalmoplegia
POLG	Orphanet:254892	Autosomal dominant progressive external ophthalmoplegia
POLG	Orphanet:298	Mitochondrial neurogastrointestinal encephalomyopathy
POLG	Orphanet:402082	Progressive myoclonic epilepsy type 5
POLG	Orphanet:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
POLG	Orphanet:726	Alpers-Huttenlocher syndrome
POLG	Orphanet:94125	Recessive mitochondrial ataxia syndrome

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RRM2B	HGNC:17296	ENSG00000048392	Q7LG56	Ribonucleoside-diphosphate reductase subunit M2 B	clinvar
MYH7	HGNC:7577	ENSG00000092054	P12883	Myosin-7	clinvar
POLG	HGNC:9179	ENSG00000140521	P54098	DNA polymerase subunit gamma-1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RRM2B	Ribonucleoside-diphosphate reductase subunit M2 B	Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner.
MYH7	Myosin-7	Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction.
POLG	DNA polymerase subunit gamma-1	Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA).

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.33

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
Scaffold/PPI	1	5.8×	0.345
Enzyme (other)	1	4.0×	0.345
Other/Unknown	1	0.6×	0.914

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RRM2B	Enzyme (other)	yes	1.17.4.1	RNR_small_fam, Ferritin-like_SF, RNR-like
MYH7	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail
POLG	Other/Unknown	no		DNA-dir_DNA_pol_A_palm_dom, DNA-dir_DNA_pol_A_mt, RNaseH-like_sf

Expression context

Cohort genes with no expression data: 0.

3 cohort genes 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
deltoid	1
oocyte	1
secondary oocyte	1
apex of heart	1
hindlimb stylopod muscle	1
skeletal muscle tissue of biceps brachii	1
granulocyte	1
small intestine Peyer’s patch	1
tibial nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RRM2B	254	ubiquitous	marker	secondary oocyte, oocyte, deltoid
MYH7	167	tissue_specific	marker	apex of heart, hindlimb stylopod muscle, skeletal muscle tissue of biceps brachii
POLG	295	ubiquitous	marker	granulocyte, small intestine Peyer’s patch, tibial nerve

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
POLG	3,400
MYH7	2,744
RRM2B	2,432

Intra-cohort edges

A	B	Sources
POLG	RRM2B	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MYH7	P12883	43
POLG	P54098	36
RRM2B	Q7LG56	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 3 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Strand-asynchronous mitochondrial DNA replication	1	571.0×	0.005	POLG
Interconversion of nucleotide di- and triphosphates	1	178.4×	0.008	RRM2B
TP53 Regulates Metabolic Genes	1	64.9×	0.015	RRM2B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mitochondrial DNA replication	2	1021.3×	4e-05	RRM2B, POLG
deoxyribonucleoside triphosphate metabolic process	1	5617.3×	0.002	RRM2B
regulation of slow-twitch skeletal muscle fiber contraction	1	2808.7×	0.002	MYH7
ribonucleoside diphosphate metabolic process	1	1872.4×	0.002	RRM2B
deoxyribonucleotide biosynthetic process	1	1872.4×	0.002	RRM2B
2’-deoxyribonucleotide biosynthetic process	1	1872.4×	0.002	RRM2B
regulation of the force of skeletal muscle contraction	1	1872.4×	0.002	MYH7
DNA replication proofreading	1	1872.4×	0.002	POLG
positive regulation of G0 to G1 transition	1	1123.5×	0.003	RRM2B
transition between fast and slow fiber	1	802.5×	0.004	MYH7
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1	802.5×	0.004	RRM2B
response to amine	1	624.1×	0.004	RRM2B
adult heart development	1	401.2×	0.005	MYH7
renal system process	1	374.5×	0.005	RRM2B
base-excision repair, gap-filling	1	374.5×	0.005	POLG
DNA metabolic process	1	351.1×	0.005	POLG
cardiac muscle hypertrophy in response to stress	1	351.1×	0.005	MYH7
muscle filament sliding	1	351.1×	0.005	MYH7
regulation of the force of heart contraction	1	330.4×	0.005	MYH7
DNA synthesis involved in DNA repair	1	312.1×	0.005	RRM2B
striated muscle contraction	1	280.9×	0.006	MYH7
ventricular cardiac muscle tissue morphogenesis	1	234.1×	0.006	MYH7
positive regulation of G2/M transition of mitotic cell cycle	1	200.6×	0.007	RRM2B
DNA-templated DNA replication	1	187.2×	0.007	POLG
skeletal muscle contraction	1	170.2×	0.008	MYH7
regulation of heart rate	1	156.0×	0.008	MYH7
base-excision repair	1	156.0×	0.008	POLG
ATP metabolic process	1	156.0×	0.008	MYH7
cardiac muscle contraction	1	133.8×	0.008	MYH7
muscle contraction	1	69.3×	0.016	MYH7

Therapeutics

Drug target analysis

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

Druggability breadth: 3 of 3 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
POLG	ADEFOVIR DIPIVOXIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RRM2B	1	3
POLG	1	4
MYH7	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
ADEFOVIR DIPIVOXIL	4	POLG
TRIAPINE	3	RRM2B

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
RRM2B	47	Binding:44, Functional:3
POLG	33	Binding:30, ADMET:2, Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RRM2B	1.17.4.1	ribonucleoside-diphosphate reductase

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

2 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.

Compound	Max phase	Cohort target (bioactivity)
ADEFOVIR DIPIVOXIL	4	POLG
TRIAPINE	3	RRM2B

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	POLG
B	Phased (≥1) drug, not yet approved	1	RRM2B
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MYH7

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
MYH7	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04941326	Not specified	RECRUITING	The Effect of Spinal Mobilization on Respiratory Parameters in Parkinson’s Disease Patients