Nephropathic cystinosis

Summary

Nephropathic cystinosis (MONDO:0100151) is a disease caused by CTNS (GenCC Definitive), with 3 cohort genes and 7 clinical trials. Top therapeutic interventions include cysteamine bitartrate.

At a glance

• Causal gene: CTNS (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 379
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nephropathic cystinosis
Mondo ID	MONDO:0100151
MeSH	C535335
OMIM	219800
ICD-11	810546659
NCIT	C129932
UMLS	C2931187
MedGen	419735
GARD	0010074
Is cancer (heuristic)	no

Also known as: Abderhalden Kaufmann Lignac syndrome · Abderhalden Lignac Kaufmann disease · Abderhalden-Kaufmann-Lignac syndrome · Abderhalden-Lignac-Kaufmann disease · CTNS · cystinosis, atypical nephropathic · cystinosis, nephropathic

Data availability: 379 ClinVar variants · 3 GenCC gene-disease records · 25 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › nephropathic cystinosis

Related subtypes (218): immunodeficiency-centromeric instability-facial anomalies syndrome, hypercalcemia, infantile, Ochoa syndrome, autosomal recessive Ehlers-Danlos syndrome, vascular type, hydrolethalus syndrome, 3-M syndrome, isolated hyperchlorhidrosis, dacryocystitis-osteopoikilosis syndrome, Hutchinson-Gilford progeria syndrome, achalasia microcephaly syndrome, acrorenal syndrome, autosomal recessive, beta-ketothiolase deficiency, autosomal recessive Alport syndrome, Alstrom syndrome, microphthalmia with limb anomalies, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Behr syndrome, bifid nose, autosomal recessive, Bloom syndrome, Bowen-Conradi syndrome, camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, heart defects-limb shortening syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, COFS syndrome, craniometaphyseal dysplasia, autosomal recessive, Fraser syndrome, cystic fibrosis, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, persistent hyperplastic primary vitreous, autosomal recessive, Donnai-Barrow syndrome, Schöpf-Schulz-Passarge syndrome, cleft lip/palate-ectodermal dysplasia syndrome, Ellis-van Creveld syndrome, Wolcott-Rallison syndrome, autosomal recessive faciodigitogenital syndrome, acromesomelic dysplasia 2B, brittle cornea syndrome, triple-A syndrome, autosomal recessive humeroradial synostosis, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hypertelorism, microtia, facial clefting syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, Vici syndrome, Johanson-Blizzard syndrome, autosomal recessive Kenny-Caffey syndrome, Papillon-Lefevre disease, Haim-Munk syndrome, Laurence-Moon syndrome, Donohue syndrome, lipase deficiency, combined, autosomal recessive familial Mediterranean fever, thiamine-responsive megaloblastic anemia syndrome, cartilage-hair hypoplasia, Nijmegen breakage syndrome, pseudo-TORCH syndrome, Galloway-Mowat syndrome, mulibrey nanism, myotonia congenita, autosomal recessive, Schwartz-Jampel syndrome, proteosome-associated autoinflammatory syndrome, Netherton syndrome, Niemann-Pick disease type A, oculodentodigital dysplasia, autosomal recessive, odonto-onycho-dermal dysplasia, autosomal recessive omodysplasia, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, phenylketonuria, Bjornstad syndrome, Laron syndrome, autosomal recessive polycystic kidney disease, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, autosomal recessive Robinow syndrome, Sjogren-Larsson syndrome, scapuloperoneal spinal muscular atrophy, autosomal recessive, spondyloepiphyseal dysplasia tarda, autosomal recessive, inherited threoninemia, Pendred syndrome, autosomal recessive spondylocostal dysostosis, Werner syndrome, ABCD syndrome, Naxos disease, autosomal recessive amelia, human HOXA1 syndromes, sickle cell disease, autosomal recessive proximal renal tubular acidosis, hyper-IgM syndrome type 2, temtamy preaxial brachydactyly syndrome, TH-deficient dopa-responsive dystonia, craniosynostosis syndrome, autosomal recessive, Niemann-Pick disease type B, skin fragility-woolly hair-palmoplantar keratoderma syndrome, CoQ-responsive OXPHOS deficiency, familial adenomatous polyposis 2, Pierson syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, cardiomyopathy-hypotonia-lactic acidosis syndrome, PHARC syndrome, Kahrizi syndrome, cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, congenital prothrombin deficiency, immunodeficiency 31B, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, Nestor-Guillermo progeria syndrome, leukoencephalopathy with calcifications and cysts, mitochondrial pyruvate carrier deficiency, branched-chain keto acid dehydrogenase kinase deficiency, dyskeratosis congenita, autosomal recessive 5, hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, alacrima, achalasia, and intellectual disability syndrome, hyperlipoproteinemia, type 1D, microcephaly and chorioretinopathy 2, congenital stationary night blindness 1G, combined oxidative phosphorylation deficiency 29, hypermanganesemia with dystonia 2, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, gnb5-related intellectual disability-cardiac arrhythmia syndrome, autosomal recessive spastic paraplegia type 78, autosomal recessive limb-girdle muscular dystrophy, Bardet-Biedl syndrome, autosomal recessive cerebellar ataxia, neuronopathy, distal hereditary motor, autosomal recessive, UV-sensitive syndrome, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Cockayne syndrome, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, leukoencephalopathy-palmoplantar keratoderma syndrome, autosomal recessive hypohidrotic ectodermal dysplasia, Warburg micro syndrome, autosomal recessive primary microcephaly, autosomal recessive progressive external ophthalmoplegia, Meier-Gorlin syndrome, autosomal recessive sideroblastic anemia, autosomal recessive intermediate Charcot-Marie-Tooth disease, Perrault syndrome, autosomal recessive hypophosphatemic rickets, de Barsy syndrome, leukocyte adhesion deficiency, Senior-Loken syndrome, autosomal recessive spastic ataxia, childhood-onset autosomal recessive myopathy with external ophthalmoplegia, autosomal recessive cerebral atrophy, GM3 synthase deficiency, autosomal recessive distal renal tubular acidosis, pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, autosomal recessive brachyolmia, Aicardi-Goutieres syndrome, homocystinuria without methylmalonic aciduria, Niemann-Pick disease type C, nephronophthisis, autosomal recessive osteopetrosis, peroxisome biogenesis disorder, congenital non-bullous ichthyosiform erythroderma, Seckel syndrome, Usher syndrome, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa type 2, hearing loss, autosomal recessive, microcephaly, growth restriction, and increased sister chromatid exchange 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, congenital vertebral-cardiac-renal anomalies syndrome, hair defect with photosensitivity and intellectual disability syndrome, autosomal recessive severe congenital neutropenia, severe combined immunodeficiency due to CARMIL2 deficiency, extraoral halitosis due to methanethiol oxidase deficiency, neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex 2 deficiency, nuclear type 4, mismatch repair cancer syndrome, spondyloepimetaphyseal dysplasia with joint laxity, type 3, Kilquist syndrome, Duane anomaly-myopathy-scoliosis syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, congenital myopathy with reduced type 2 muscle fibers, NAD(P)HX dehydratase deficiency, autosomal recessive ocular albinism, ichthyosis linearis circumflexa, eosinophil peroxidase deficiency, hyperphenylalaninemia due to DNAJC12 deficiency, autosomal recessive epidermolytic ichthyosis, Ehlers-Danlos syndrome, classic-like, 2, joint laxity, short stature, and myopia, HELIX syndrome, auditory neuropathy-optic atrophy syndrome, glycosylphosphatidylinositol biosynthesis defect 15, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, SCN4A-related myopathy, autosomal recessive, Uner Tan Syndrome, Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 2, permanent neonatal diabetes mellitus 1, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Rajab interstitial lung disease with brain calcifications 1, Roberts-SC phocomelia syndrome, neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, RPE65-related recessive retinopathy, GUCY2D-related recessive retinopathy, autosomal recessive titinopathy, intellectual disability, autosomal recessive, ALPL-related autosomal recessive hypophosphatasia, spastic paraplegia 18b, autosomal recessive, CEP164-related ciliopathy, RP1-related recessive retinopathy, pseudohypoaldosteronism, type IB2, autosomal recessive, pseudohypoaldosteronism, type IB3, autosomal recessive, spastic paraplegia 30B, autosomal recessive, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, brain small vessel disease 2B, autosomal recessive, IMPG1-related recessive retinopathy, PROM1-related recessive retinopathy

Subtypes (2): juvenile nephropathic cystinosis, nephropathic infantile cystinosis

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

379 retrieved; paginated sample, class counts are floors:

136 uncertain significance, 56 likely pathogenic, 53 pathogenic, 50 benign, 33 pathogenic/likely pathogenic, 24 conflicting classifications of pathogenicity, 22 likely benign, 5 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1020638	NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1065827	NM_004937.3(CTNS):c.681+8del	CTNS	Pathogenic	no assertion criteria provided
1067346	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075103	NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1179166	GRCh37/hg19 17p13.2(chr17:3539741-3561489)	CTNS	Pathogenic	no assertion criteria provided
1425663	NM_004937.3(CTNS):c.699_700del (p.Ser234fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
1451713	NM_004937.3(CTNS):c.970+5G>A	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1698582	NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1705665	NM_004937.3(CTNS):c.751_752del (p.Thr251fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
1724190	NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188714	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188718	NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188741	NM_004937.3(CTNS):c.292dup (p.Thr98fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188893	NM_004937.3(CTNS):c.225+5_225+6delinsCC	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189020	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189067	NM_004937.3(CTNS):c.561+1del	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21438	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21439	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21440	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
21441	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
21442	NM_004937.3(CTNS):c.559_561+24del	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2194886	NM_004937.3(CTNS):c.141-24T>C	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
253205	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
253206	NM_004937.3(CTNS):c.257_258del (p.Ser86fs)	CTNS	Pathogenic	criteria provided, single submitter
267306	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2681007	NM_004937.3(CTNS):c.225+3A>T	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
2681023	NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 3 · 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.

Gene	Classification	Inheritance	Disease	Records
CTNS	Definitive	Autosomal recessive	nephropathic cystinosis	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CTNS	Orphanet:411629	Infantile nephropathic cystinosis
CTNS	Orphanet:411634	Juvenile nephropathic cystinosis
CTNS	Orphanet:411641	Ocular cystinosis

Cohort genes → proteins

3 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CTNS	HGNC:2518	ENSG00000040531	O60931	Cystinosin	gencc,clinvar
SLC66A1	HGNC:26001	ENSG00000040487	Q6ZP29	Lysosomal amino acid transporter 1 homolog	clinvar
CTNS-AS1	HGNC:56090	ENSG00000262903		CTNS antisense RNA 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CTNS	Cystinosin	Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes.
SLC66A1	Lysosomal amino acid transporter 1 homolog	Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 2 · 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
Transporter	1	25.9×	0.076
Other/Unknown	2	1.2×	0.587

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CTNS	Transporter	yes		LC_transporter, PQ-loop_rpt
SLC66A1	Other/Unknown	no		PQ-loop_rpt, LAAT-1
CTNS-AS1	Other/Unknown	no

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)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right adrenal gland cortex	2
left adrenal gland cortex	1
right adrenal gland	1
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
male germ line stem cell (sensu Vertebrata) in testis	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CTNS	251	ubiquitous	marker	right adrenal gland cortex, left adrenal gland cortex, right adrenal gland
SLC66A1	172	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
CTNS-AS1	131		yes	male germ line stem cell (sensu Vertebrata) in testis, right uterine tube, right adrenal gland cortex

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CTNS	850
SLC66A1	562
CTNS-AS1	0

Intra-cohort edges

A	B	Sources
CTNS	SLC66A1	string_interaction

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CTNS	O60931	6

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SLC66A1	Q6ZP29	83.40

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
Miscellaneous transport and binding events	2	439.2×	1e-05	CTNS, SLC66A1
SLC-mediated transport of oligopeptides	1	5710.0×	3e-04	CTNS
Transport of small molecules	1	12.6×	0.078	SLC66A1

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 term	Cohort genes	Fold	FDR	Sample cohort genes
transmembrane transport	2	168.5×	8e-04	CTNS, SLC66A1
lysine transport	1	4213.0×	0.002	SLC66A1
regulation of melanin biosynthetic process	1	2808.7×	0.002	CTNS
intracellular amino acid homeostasis	1	2808.7×	0.002	SLC66A1
L-histidine transmembrane transport	1	2808.7×	0.002	SLC66A1
L-cystine transport	1	1404.3×	0.002	CTNS
L-lysine transmembrane transport	1	1404.3×	0.002	SLC66A1
regulation of TORC1 signaling	1	842.6×	0.003	CTNS
L-arginine transmembrane transport	1	702.2×	0.004	SLC66A1
melanin biosynthetic process	1	648.1×	0.004	CTNS
grooming behavior	1	561.7×	0.004	CTNS
amino acid metabolic process	1	401.2×	0.005	CTNS
adult walking behavior	1	247.8×	0.007	CTNS
ATP metabolic process	1	234.1×	0.007	CTNS
long-term memory	1	210.7×	0.007	CTNS
lens development in camera-type eye	1	187.2×	0.008	CTNS
glutathione metabolic process	1	175.5×	0.008	CTNS
visual learning	1	153.2×	0.008	CTNS
positive regulation of TORC1 signaling	1	147.8×	0.008	CTNS
cognition	1	142.8×	0.008	CTNS
monoatomic ion transport	1	78.0×	0.014	CTNS
brain development	1	39.8×	0.026	CTNS
protein transport	1	21.9×	0.045	CTNS

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 3 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CTNS	0	0
SLC66A1	0	0
CTNS-AS1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
CTNS	2	Binding:2

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	1	CTNS
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	SLC66A1, CTNS-AS1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CTNS	2	—
SLC66A1	0	—
CTNS-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06910813	PHASE1/PHASE2	RECRUITING	DFT383 in Pediatric Participants With Nephropathic Cystinosis
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT03919981	Not specified	RECRUITING	CYSTEA-BONE Clinical Study
NCT04246060	Not specified	ENROLLING_BY_INVITATION	Observational Study to Assess the Quality of Life in Nephropathic Cystinosis Patients
NCT01327807	Not specified	UNKNOWN	Cure Cystinosis International Registry
NCT01432561	Not specified	COMPLETED	Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™
NCT06027385	Not specified	COMPLETED	Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CYSTEAMINE BITARTRATE	4	2