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🇫🇷 Fiche Orphanet officielle

Maladie de Fanconi

ORPHA:84PathologieCIM-10 : D61.0CIM-11 : 3A70.0OMIM : 227645

Synonymes : Anémie de Fanconi · Pancytopénie de Fanconi

Définition clinique

Maladie génétique rare, multisystémique, caractérisée par une insuffisance médullaire progressive associée à des malformations congénitales et un risque élevé d'hémopathies myéloïdes (leucémies myéloblastiques, syndromes myélodysplasiques) et de tumeurs solides.

🩺 Symptômes & manifestations cliniques

106 phénotypes HPO annotés Orphanet

🔴 Très fréquent (99-80%) — 13

  • Abnormality of skin pigmentation
  • Hypopigmented skin patches
  • Abnormal thumb morphology
  • Abnormality of blood and blood-forming tissues
  • Thrombocytopenia
  • Leukopenia
  • Anemia
  • Abnormality of the upper limb
  • Abnormality of chromosome stability
  • Short stature
  • Pyridoxine-responsive sideroblastic anemia
  • Aplasia/Hypoplasia of the radius
  • Irregular hyperpigmentation

🟠 Fréquent (79-30%) — 10

  • Abnormality of the urinary system
  • Microcephaly
  • Intellectual disability
  • Global developmental delay
  • Abnormal cardiac septum morphology
  • Scoliosis
  • Neoplasm
  • Almond-shaped palpebral fissure
  • Abnormal renal morphology
  • Short palpebral fissure
🟡 Occasionnel / autres (83) ↓
  • Hypogonadism(Occasionel (29-5%))
  • Cleft palate(Occasionel (29-5%))
  • High palate(Occasionel (29-5%))
  • Hydrocephalus(Occasionel (29-5%))
  • Dolichocephaly(Occasionel (29-5%))
  • Epicanthus(Occasionel (29-5%))
  • Hypertelorism(Occasionel (29-5%))
  • Facial asymmetry(Occasionel (29-5%))
  • Sloping forehead(Occasionel (29-5%))
  • Micrognathia(Occasionel (29-5%))
  • Hearing abnormality(Occasionel (29-5%))
  • Hearing impairment(Occasionel (29-5%))
  • Choanal atresia(Occasionel (29-5%))
  • Abnormality of the eye(Occasionel (29-5%))
  • Astigmatism(Occasionel (29-5%))
  • Strabismus(Occasionel (29-5%))
  • Abnormal eyelid morphology(Occasionel (29-5%))
  • Abnormality of vision(Occasionel (29-5%))
  • Visual impairment(Occasionel (29-5%))
  • Ptosis(Occasionel (29-5%))
  • Cataract(Occasionel (29-5%))
  • Proptosis(Occasionel (29-5%))
  • Microphthalmia(Occasionel (29-5%))
  • Upslanted palpebral fissure(Occasionel (29-5%))
  • Nystagmus(Occasionel (29-5%))
  • Bicornuate uterus(Occasionel (29-5%))
  • Abnormality of the hypothalamus-pituitary axis(Occasionel (29-5%))
  • Triphalangeal thumb(Occasionel (29-5%))
  • Hyperreflexia(Occasionel (29-5%))
  • Abnormality of the liver(Occasionel (29-5%))
  • Growth delay(Occasionel (29-5%))
  • Intrauterine growth retardation(Occasionel (29-5%))
  • Umbilical hernia(Occasionel (29-5%))
  • Oligohydramnios(Occasionel (29-5%))
  • Atrial septal defect(Occasionel (29-5%))
  • Tetralogy of Fallot(Occasionel (29-5%))
  • Hypertrophic cardiomyopathy(Occasionel (29-5%))
  • Patent ductus arteriosus(Occasionel (29-5%))
  • Abnormal aortic valve morphology(Occasionel (29-5%))
  • Abnormal aortic morphology(Occasionel (29-5%))
  • Abnormal foot morphology(Occasionel (29-5%))
  • Pes planus(Occasionel (29-5%))
  • Toe syndactyly(Occasionel (29-5%))
  • Weight loss(Occasionel (29-5%))
  • Frontal bossing(Occasionel (29-5%))
  • Anal atresia(Occasionel (29-5%))
  • Ventriculomegaly(Occasionel (29-5%))
  • Meckel diverticulum(Occasionel (29-5%))
  • Aganglionic megacolon(Occasionel (29-5%))
  • Spina bifida(Occasionel (29-5%))
  • Tracheoesophageal fistula(Occasionel (29-5%))
  • Abnormality of femur morphology(Occasionel (29-5%))
  • Hip dislocation(Occasionel (29-5%))
  • Myelodysplasia(Occasionel (29-5%))
  • Hypoplasia of the ulna(Occasionel (29-5%))
  • Clinodactyly of the 5th finger(Occasionel (29-5%))
  • Reduced bone mineral density(Occasionel (29-5%))
  • Abnormality of the carotid arteries(Occasionel (29-5%))
  • Finger syndactyly(Occasionel (29-5%))
  • Aplasia/Hypoplasia of fingers(Occasionel (29-5%))
  • Cranial nerve paralysis(Occasionel (29-5%))
  • Multiple cafe-au-lait spots(Occasionel (29-5%))
  • Aplasia/Hypoplasia of the iris(Occasionel (29-5%))
  • Renal hypoplasia/aplasia(Occasionel (29-5%))
  • Aplasia/Hypoplasia of the uvula(Occasionel (29-5%))
  • Absent testis(Occasionel (29-5%))
  • Decreased fertility in males(Occasionel (29-5%))
  • Abnormal nervous system morphology(Occasionel (29-5%))
  • Abnormal morphology of ulna(Occasionel (29-5%))
  • Arteriovenous malformation(Occasionel (29-5%))
  • Abnormal localization of kidney(Occasionel (29-5%))
  • Abnormality of the preputium(Occasionel (29-5%))
  • Clubbing of toes(Occasionel (29-5%))
  • Duodenal stenosis(Occasionel (29-5%))
  • Recurrent urinary tract infections(Occasionel (29-5%))
  • Azoospermia(Occasionel (29-5%))
  • Cryptorchidism(Occasionel (29-5%))
  • Abnormal testis morphology(Occasionel (29-5%))
  • Hypospadias(Occasionel (29-5%))
  • Hydroureter(Occasionel (29-5%))
  • Renal insufficiency(Occasionel (29-5%))
  • Abnormality of the uterus(Occasionel (29-5%))
  • Abnormal pinna morphology(Occasionel (29-5%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Maladie de Fanconi. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.

🔬 Examens & investigations

📋 PNDS — recommandations officielles françaises

Le Protocole National de Diagnostic et Soins est le référentiel HAS pour la prise en charge d'une maladie rare en France. Environ 300 maladies en disposent (plus rare que la maladie elle-même → plus de chances qu'il n'existe pas).

🏥 Centres experts

Liste Orphanet officielle des centres experts pour cette maladie spécifique (CRMR / CCMR) — coordonnées et coordinateurs.

📍 Trouver un spécialiste près de chez vous

Entrez votre ville ou code postal pour filtrer l'annuaire MonRhumato et localiser les centres experts les plus proches.

🔍 Annuaire MonRhumato →🗺️ Google Maps ↗

🧬 Gènes associés & variants

  • RAD5115q15.1

    ClinVar : 533 variants

    Disease-causing germline mutation(s) inAssessed

  • BRCA117q21.31

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • BRCA213q13.1

    ClinVar : 22075 variants

    Disease-causing germline mutation(s) inAssessed

  • BRIP117q23.2

    Disease-causing germline mutation(s) inAssessed

  • ERCC416p13.12

    Disease-causing germline mutation(s) inAssessed

  • FANCA16q24.3

    Disease-causing germline mutation(s) inAssessed

  • FANCBXp22.2

    Disease-causing germline mutation(s) inAssessed

  • FANCC9q22.32

    Disease-causing germline mutation(s) inAssessed

  • FANCD23p25.3

    Disease-causing germline mutation(s) inAssessed

  • FANCE6p21.31

    Disease-causing germline mutation(s) inAssessed

  • FANCF11p14.3

    Disease-causing germline mutation(s) inAssessed

  • FANCG9p13.3

    Disease-causing germline mutation(s) inAssessed

  • FANCL2p16.1

    Disease-causing germline mutation(s) inAssessed

  • FANCM14q21.2

    Disease-causing germline mutation(s) inAssessed

  • FANCI15q26.1

    Disease-causing germline mutation(s) inAssessed

  • PALB216p12.2

    Disease-causing germline mutation(s) inAssessed

  • RAD51C17q22

    Disease-causing germline mutation(s) inAssessed

  • SLX416p13.3

    Disease-causing germline mutation(s) inAssessed

  • XRCC27q36.1

    Disease-causing germline mutation(s) inAssessed

  • UBE2T1q32.1

    Disease-causing germline mutation(s) inAssessed

  • MAD2L21p36.22

    Disease-causing germline mutation(s) inAssessed

  • RFWD316q23.1

    Disease-causing germline mutation(s) inAssessed

  • FAAP10017q25.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

Codifications validées (27) ↓
  • GARD:6425
  • ICD-10:D61.0
  • ICD-11:3A70.0
  • MONDO:0019391
  • MeSH:D005199
  • MedDRA:10055206
  • OMIM:227645
  • OMIM:227646
  • OMIM:227650
  • OMIM:300514
  • OMIM:600901
  • OMIM:603467
  • OMIM:609053
  • OMIM:609054
  • OMIM:610832
  • OMIM:613390
  • OMIM:613951
  • OMIM:614082
  • OMIM:614083
  • OMIM:615272
  • OMIM:616435
  • OMIM:617243
  • OMIM:617244
  • OMIM:617247
  • OMIM:617883
  • OMIM:621258
  • UMLS:C0015625

Pour aller plus loin (sources publiques)

📚 PubMed récent🔍 Rhumatologues

Toutes les données médicales : Orphadata (Orphanet, INSERM US14, CC-BY-4.0). Variants : ClinVar (NCBI). Phénotypes : HPO (Jackson Lab). Fiche purement sourcée — aucune donnée hardcodée.