ORPHA:84

Fanconi anemia

Synonyms: Fanconi pancytopenia

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive, X-linked recessive
Age of onset: Childhood
Status: active

A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Fanconi anemia	Fanconi pancytopenia
fr	Maladie de Fanconi	Anémie de Fanconi · Pancytopénie de Fanconi
de	Fanconi-Anämie	Fanconi-Panzytopenie
es	Anemia de Fanconi	Pancitopenia de Fanconi
it	Anemia di Fanconi	Pancitopenia di Fanconi
nl	Fanconi-anemie	Fanconi-pancytopenie
pt	Anemia de Fanconi	Pancitopenia de Fanconi
pl	Anemia Fanconiego	Pancytopenia Fanconiego
cs	Fanconiho anémie	Fanconiho pancytopenie
uk	Анемія Фанконі	Панцитопенія Фанконі
zh	范科尼贫血	范科尼全血细胞减少
tr	Fanconi anemisi	Fanconi pansitopeni

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	227645	BTNT		validated
OMIM	227646	BTNT		validated
OMIM	227650	E		validated
OMIM	300514	BTNT		validated
OMIM	600901	BTNT		validated
OMIM	603467	BTNT		validated
OMIM	609053	BTNT		validated
OMIM	609054	BTNT		validated
OMIM	610832	BTNT		validated
OMIM	613390	BTNT		validated
OMIM	613951	BTNT		validated
OMIM	614082	BTNT		validated
OMIM	614083	BTNT		validated
OMIM	615272	BTNT		validated
OMIM	616435	BTNT		validated
OMIM	617243	BTNT		validated
OMIM	617244	BTNT		validated
OMIM	617247	BTNT		validated
OMIM	617883	BTNT		validated
OMIM	621258	BTNT		validated
ICD-10	D61.0	NTBT	inclusion	validated
ICD-11	3A70.0	NTBT	index	validated
MONDO	0019391	E		validated
MeSH	D005199	E		validated
UMLS	C0015625	E		validated
GARD	6425	E		validated
MedDRA	10055206	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (13):

ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases
ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases
ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases
ORPHA:93614Hematological disorder with renal involvement
rare genetic diseases; rare renal diseases
ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases
ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases

No children.

Genes

23 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BRCA1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1100	ENSG00000012048	113705	17q21.31	BRCA1 DNA repair associated	29133208[PMID]
FAAP100	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26171	ENSG00000185504	611301	17q25.3	FA core complex associated protein 100	40244696[PMID]
BRCA2	Disease-causing germline mutation(s) in	Assessed	HGNC:1101	ENSG00000139618	600185	13q13.1	BRCA2 DNA repair associated	20301575[PMID]
BRIP1	Disease-causing germline mutation(s) in	Assessed	HGNC:20473	ENSG00000136492	605882	17q23.2	BRCA1 interacting DNA helicase 1	20301575[PMID]
ERCC4	Disease-causing germline mutation(s) in	Assessed	HGNC:3436	ENSG00000175595	133520	16p13.12	ERCC excision repair 4, endonuclease catalytic subunit	23623386[PMID]
FANCA	Disease-causing germline mutation(s) in	Assessed	HGNC:3582	ENSG00000187741	607139	16q24.3	FA complementation group A	20301575[PMID]
FANCB	Disease-causing germline mutation(s) in	Assessed	HGNC:3583	ENSG00000181544	300515	Xp22.2	FA complementation group B	20301575[PMID]
FANCC	Disease-causing germline mutation(s) in	Assessed	HGNC:3584	ENSG00000158169	613899	9q22.32	FA complementation group C	20301575[PMID]
FANCD2	Disease-causing germline mutation(s) in	Assessed	HGNC:3585	ENSG00000144554	613984	3p25.3	FA complementation group D2	20301575[PMID]
FANCE	Disease-causing germline mutation(s) in	Assessed	HGNC:3586	ENSG00000112039	613976	6p21.31	FA complementation group E	20301575[PMID]
FANCF	Disease-causing germline mutation(s) in	Assessed	HGNC:3587	ENSG00000183161	613897	11p14.3	FA complementation group F	20301575[PMID]
FANCG	Disease-causing germline mutation(s) in	Assessed	HGNC:3588	ENSG00000221829	602956	9p13.3	FA complementation group G	20301575[PMID]
FANCI	Disease-causing germline mutation(s) in	Assessed	HGNC:25568	ENSG00000140525	611360	15q26.1	FA complementation group I	20301575[PMID]
FANCL	Disease-causing germline mutation(s) in	Assessed	HGNC:20748	ENSG00000115392	608111	2p16.1	FA complementation group L	20301575[PMID]
FANCM	Disease-causing germline mutation(s) in	Assessed	HGNC:23168	ENSG00000187790	609644	14q21.2	FA complementation group M	20301575[PMID]
MAD2L2	Disease-causing germline mutation(s) in	Assessed	HGNC:6764	ENSG00000116670	604094	1p36.22	mitotic arrest deficient 2 like 2	27500492[PMID]
PALB2	Disease-causing germline mutation(s) in	Assessed	HGNC:26144	ENSG00000083093	610355	16p12.2	partner and localizer of BRCA2	20301575[PMID]
RAD51	Disease-causing germline mutation(s) in	Assessed	HGNC:9817	ENSG00000051180	179617	15q15.1	RAD51 recombinase	26681308[PMID]
RAD51C	Disease-causing germline mutation(s) in	Assessed	HGNC:9820	ENSG00000108384	602774	17q22	RAD51 paralog C	20301575[PMID]
RFWD3	Disease-causing germline mutation(s) in	Assessed	HGNC:25539	ENSG00000168411	614151	16q23.1	ring finger and WD repeat domain 3	28691929[PMID]
SLX4	Disease-causing germline mutation(s) in	Assessed	HGNC:23845	ENSG00000188827	613278	16p13.3	SLX4 structure-specific endonuclease subunit	20301575[PMID]
UBE2T	Disease-causing germline mutation(s) in	Assessed	HGNC:25009	ENSG00000077152	610538	1q32.1	ubiquitin conjugating enzyme E2 T	26046368[PMID]
XRCC2	Disease-causing germline mutation(s) in	Assessed	HGNC:12829	ENSG00000196584	600375	7q36.1	X-ray repair cross complementing 2	22232082[PMID]_27208205[PMID]

Prevalence and incidence

7 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	3.3 / 100 000	Specific population	Value and class	Validated	7492758[PMID]
Point prevalence	1-9 / 1 000 000	0.3 / 100 000	Europe	Value and class	Validated	20824457[PMID]_European Medicines Agency 2018[OTHER]
Prevalence at birth	1-9 / 1 000 000	0.62 / 100 000	Europe	Value and class	Validated	[EXPERT]
Prevalence at birth	1-9 / 100 000	2.2 / 100 000	Israel	Value and class	Validated	20435624[PMID]
Point prevalence	1-9 / 100 000	2.5 / 100 000	Specific population	Value and class	Validated	11344308[PMID]
Point prevalence	1-9 / 100 000	2.5 / 100 000	Specific population	Value and class	Validated	15522956[PMID]
Point prevalence	1-9 / 1 000 000	0.111 / 100 000	China	Value and class	Validated	34103049[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

106 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001172	Abnormal thumb morphology
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0003220	Abnormality of chromosome stability
HP:0001000	Abnormality of skin pigmentation
HP:0002817	Abnormality of the upper limb
HP:0001903	Anemia
HP:0006501	Aplasia/Hypoplasia of the radius
HP:0001053	Hypopigmented skin patches
HP:0007400	Irregular hyperpigmentation
HP:0001882	Leukopenia
HP:0005522	Pyridoxine-responsive sideroblastic anemia
HP:0004322	Short stature
HP:0001873	Thrombocytopenia
Frequent (79-30%)
HP:0001671	Abnormal cardiac septum morphology
HP:0012210	Abnormal renal morphology
HP:0000079	Abnormality of the urinary system
HP:0007874	Almond-shaped palpebral fissure
HP:0001263	Global developmental delay
HP:0001249	Intellectual disability
HP:0000252	Microcephaly
HP:0002664	Neoplasm
HP:0002650	Scoliosis
HP:0012745	Short palpebral fissure
Occasional (29-5%)
HP:0001679	Abnormal aortic morphology
HP:0001646	Abnormal aortic valve morphology
HP:0000492	Abnormal eyelid morphology
HP:0001760	Abnormal foot morphology
HP:0100542	Abnormal localization of kidney
HP:0040071	Abnormal morphology of ulna
HP:0012639	Abnormal nervous system morphology
HP:0000377	Abnormal pinna morphology
HP:0000035	Abnormal testis morphology
HP:0002823	Abnormality of femur morphology
HP:0005344	Abnormality of the carotid arteries
HP:0000478	Abnormality of the eye
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0001392	Abnormality of the liver
HP:0100587	Abnormality of the preputium
HP:0000130	Abnormality of the uterus
HP:0000504	Abnormality of vision
HP:0010469	Absent testis
HP:0002251	Aganglionic megacolon
HP:0002023	Anal atresia
HP:0006265	Aplasia/Hypoplasia of fingers
HP:0008053	Aplasia/Hypoplasia of the iris
HP:0010293	Aplasia/Hypoplasia of the uvula
HP:0100026	Arteriovenous malformation
HP:0000483	Astigmatism
HP:0001631	Atrial septal defect
HP:0000027	Azoospermia
HP:0000813	Bicornuate uterus
HP:0000518	Cataract
HP:0000453	Choanal atresia
HP:0000175	Cleft palate
HP:0004209	Clinodactyly of the 5th finger
HP:0100760	Clubbing of toes
HP:0006824	Cranial nerve paralysis
HP:0000028	Cryptorchidism
HP:0012041	Decreased fertility in males
HP:0000268	Dolichocephaly
HP:0100867	Duodenal stenosis
HP:0000286	Epicanthus
HP:0000324	Facial asymmetry
HP:0006101	Finger syndactyly
HP:0002007	Frontal bossing
HP:0001510	Growth delay
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000218	High palate
HP:0002827	Hip dislocation
HP:0000238	Hydrocephalus
HP:0000072	Hydroureter
HP:0001347	Hyperreflexia
HP:0000316	Hypertelorism
HP:0001639	Hypertrophic cardiomyopathy
HP:0000135	Hypogonadism
HP:0003022	Hypoplasia of the ulna
HP:0000047	Hypospadias
HP:0001511	Intrauterine growth retardation
HP:0002245	Meckel diverticulum
HP:0000347	Micrognathia
HP:0000568	Microphthalmia
HP:0007565	Multiple cafe-au-lait spots
HP:0002863	Myelodysplasia
HP:0000639	Nystagmus
HP:0001562	Oligohydramnios
HP:0001643	Patent ductus arteriosus
HP:0001763	Pes planus
HP:0000520	Proptosis
HP:0000508	Ptosis
HP:0000010	Recurrent urinary tract infections
HP:0004349	Reduced bone mineral density
HP:0008678	Renal hypoplasia/aplasia
HP:0000083	Renal insufficiency
HP:0000340	Sloping forehead
HP:0002414	Spina bifida
HP:0000486	Strabismus
HP:0001636	Tetralogy of Fallot
HP:0001770	Toe syndactyly
HP:0002575	Tracheoesophageal fistula
HP:0001199	Triphalangeal thumb
HP:0001537	Umbilical hernia
HP:0000582	Upslanted palpebral fissure
HP:0002119	Ventriculomegaly
HP:0000505	Visual impairment
HP:0001824	Weight loss

Run the differential on the 12 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/84
This record as JSON: /data/d/84.json