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Fanconi anemia
15 OMIM references -
16 associated genes
192 connected diseases
101 signs/symptoms
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
VACTERL with hydrocephalus
Cockayne syndrome type 1
Xeroderma pigmentosum complementation group F
Hereditary nonpolyposis colon cancer
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Muir-Torre syndrome
Primary peritoneal carcinoma
Bloom syndrome
Precursor T-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Familial congenital mirror movements
COFS syndrome
Cockayne syndrome type 2
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Seckel syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Burkitt lymphoma
Late-onset autosomal recessive medullary cystic kidney disease
Familial thoracic aortic aneurysm and aortic dissection
Hereditary spherocytosis
Xeroderma pigmentosum variant
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
Acute promyelocytic leukemia
Li-Fraumeni syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Giant cell glioblastoma
Precursor B-cell acute lymphoblastic leukemia
Intermittent hydrarthrosis
TRAPS syndrome
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Congenital analbuminemia
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Annular epidermolytic ichthyosis
Autosomal dominant nonsyndromic intellectual deficit
Behavioral variant of frontotemporal dementia
Desmoid tumor
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Hepatocellular carcinoma, childhood-onset
Ichthyosis hystrix of Curth-Macklin
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Keratosis palmoplantaris striata
Progressive non-fluent aphasia
Retinitis pigmentosa
Semantic dementia
Spastic paraplegia - Paget disease of bone
Split hand-split foot malformation
Adrenocortical carcinoma
Chronic mucocutaneous candidiasis
Essential thrombocythemia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Papilloma of choroid plexus
Susceptibility to viral and mycobacterial infections
Coffin-Siris syndrome
Familial rhabdoid tumor
Nijmegen breakage syndrome
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Ataxia-telangiectasia-like disorder
Cowden syndrome
Proteus syndrome
Aneurysm - osteoarthritis syndrome
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Zollinger-Ellison syndrome
Mosaic variegated aneuploidy syndrome
Sudden infant death - dysgenesis of the testes
Autosomal recessive primary microcephaly
Nijmegen breakage syndrome-like disorder
Premature chromosome condensation with microcephaly and intellectual deficit
Autosomal dominant hypohidrotic ectodermal dysplasia
CLN3 disease
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
X-linked distal arthrogryposis multiplex congenita
Male infertility with normal virilization due to meiosis defect
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Alpha-1-antitrypsin deficiency
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant spastic paraplegia type 12
Cabezas syndrome
Chronic myeloid leukemia
Citrullinemia type II
Cockayne syndrome type 3
Combined oxidative phosphorylation defect type 2
Congenital atransferrinemia
Congenital factor VII deficiency
D,L-2-hydroxyglutaric aciduria
Distal hereditary motor neuropathy type 2
Familial aortic dissection
Familial atrial fibrillation
Familial infantile bilateral striatal necrosis
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Hereditary hyperekplexia
Hypotrichosis simplex of the scalp
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Infantile Refsum disease
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Jawad syndrome
Leber hereditary optic neuropathy
Lesch-Nyhan syndrome
Lethal polymalformative syndrome, Boissel type
Maternally-inherited Leigh syndrome
Maternally-inherited spastic paraplegia
Methylmalonic acidemia with homocystinuria, type cblX
Microcephalic primordial dwarfism, Alazami type
NARP syndrome
Neonatal adrenoleukodystrophy
Neonatal intrahepatic cholestasis due to citrin deficiency
Peeling skin syndrome type B
Pseudohypoaldosteronism type 2E
Rhizomelic chondrodysplasia punctata type 2
SHORT syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Treacher-Collins syndrome
UV-sensitive syndrome
White sponge nevus
X-linked Emery-Dreifuss muscular dystrophy
X-linked non-syndromic intellectual deficit
X-linked osteoporosis with fractures
Young adult-onset Parkinsonism
Zellweger syndrome
Aromatase deficiency
Aromatase excess syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Brachydactyly type A2
Brachydactyly type C
Fibrodysplasia ossificans progressiva
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Xeroderma pigmentosum complementation group C
Osteogenesis imperfecta type 3
Cornelia de Lange syndrome
- Fanconi pancytopenia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
15 OMIM references -
1 MeSH reference: D005199

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anaemia
- Anomalies of the hematological system
- Autosomal recessive inheritance
- Bone marrow failure / pancytopenia
- Chromosome breakage
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Leukopenia / hypoleukocytosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short stature / dwarfism / nanism
- Thrombocytopenia / thrombopenia
- Thumb anomalies (excluding hypoplasia)
- Upper limb segmental anomalies

- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Neoplasms / tumors
- Scoliosis
- Structural anomalies of the kidney and the urinary tract

- Agenesis / hypoplasia / aplasia of kidneys
- Aniridia / iris hypoplasia
- Anomalies of ear and hearing
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Astigmatism
- Atrial septal defect / interauricular communication
- Azoospermia / oligospermia / asthenospermia
- Bladder and ureter anomalies
- Cafe-au-lait spot
- Cardiomyopathy / hypertrophic / dilated
- Carotid artery anomalies
- Cataract / lens opacification
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Cranial nerves palsy
- Dilated cerebral ventricles without hydrocephaly
- Dolichocephaly / scaphocephaly
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Duodenal atresia / stenosis / megaduodenum
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- External ear anomalies
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fingerlike / triphalangeal thumb
- Flat foot
- Foot anomalies
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hydrocephaly
- Hypereflexia
- Hypertelorism
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic / aplastic uvula
- Hypospadias / epispadias / bent penis
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intrauterine growth retardation
- Irregular length / shape of fingers
- Late puberty / hypogonadism / hypogenitalism
- Meckel diverticulum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myelodysplastic syndrome
- Nystagmus
- Oligoamnios
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Patent ductus arteriosus
- Phimosis / preputial adhesions / paraphimosis
- Proptosis / exophthalmos
- Ptosis
- Recurrent urinary infections
- Renal failure
- Sloping forehead
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Spina bifida
- Stillbirth / neonatal death
- Strabismus / squint
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the nervous system
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Terminal broadening / clubbing of toes
- Testis anomalies
- Tetralogy of Fallot / trilogy of Fallot
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Uterine / uterus / Fallopian tubes anomalies
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration