Fanconi anemia

General Information (adopted from Orphanet):

Synonyms, Signs: Fanconi pancytopenia
Number of Symptoms 119
OrphanetNr: 84
OMIM Id: 227645
227646
227650
300514
600901
603467
609053
609054
610832
613390
613951
614082
614083
614087
615272
ICD-10: D61.0
UMLs: C0015625
MeSH: D005199
MedDRA: 10055206
Snomed: 30575002

Prevalence, inheritance and age of onset:

Prevalence: 0.3 [Orphanet]
Inheritance: X-linked recessive
X-linked
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperpigmentation of the skin
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Hematological disorder with renal involvement
 -Rare genetic disease
 -Rare renal disease
Hyperpigmentation of the skin
 -Rare skin disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Rare constitutional medullar aplasia
 -Rare genetic disease
 -Rare hematologic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
3
 (HPO:0000104) Renal agenesis 68 / 7739
4
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
5
 (HPO:0000085) Horseshoe kidney 39 / 7739
6
 (HPO:0008669) Abnormal spermatogenesis Occasional [Orphanet] 11 / 7739
7
 (HPO:0000086) Ectopic kidney 29 / 7739
8
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
9
 (HPO:0000081) Duplicated collecting system 16 / 7739
10
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
11
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
12
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
13
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
14
 (HPO:0000028) Cryptorchidism 347 / 7739
15
 (HPO:0100587) Abnormality of the preputium Occasional [Orphanet] 5 / 7739
16
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
17
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
18
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
19
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
20
 (HPO:0000340) Sloping forehead Occasional [Orphanet] 86 / 7739
21
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
22
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
23
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
24
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
25
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
26
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
27
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
28
 (HPO:0000568) Microphthalmia 183 / 7739
29
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
30
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
31
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
32
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
33
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
34
 (HPO:0010293) Aplasia/Hypoplasia of the uvula Occasional [Orphanet] 3 / 7739
35
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
36
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
37
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
38
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
39
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
40
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
41
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
42
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
43
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
44
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
45
 (HPO:0000356) Abnormality of the outer ear Occasional [Orphanet] 85 / 7739
46
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
47
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
48
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
49
 (HPO:0012639) Abnormality of nervous system morphology Occasional [Orphanet] 25 / 7739
50
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
51
 (HPO:0001249) Intellectual disability 1089 / 7739
52
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
53
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
54
 (HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
55
 (HPO:0009777) Absent thumb 31 / 7739
56
 (HPO:0009943) Complete duplication of thumb phalanx 8 / 7739
57
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
58
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
59
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
60
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
61
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
62
 (HPO:0009778) Short thumb 50 / 7739
63
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
64
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
65
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
66
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
67
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
68
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
69
 (HPO:0001167) Abnormality of finger Occasional [Orphanet] 29 / 7739
70
 (HPO:0100760) Clubbing of toes Occasional [Orphanet] 24 / 7739
71
 (HPO:0003974) Absent radius 26 / 7739
72
 (HPO:0001760) Abnormality of the foot Occasional [Orphanet] 96 / 7739
73
 (HPO:0001562) Oligohydramnios Occasional [Orphanet] 75 / 7739
74
 (HPO:0002245) Meckel diverticulum Occasional [Orphanet] 12 / 7739
75
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
76
 (HPO:0001080) Biliary tract abnormality Occasional [Orphanet] 26 / 7739
77
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
78
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
79
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
80
 (HPO:0001518) Small for gestational age 107 / 7739
81
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
82
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
83
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
84
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
85
 (HPO:0000978) Bruising susceptibility 123 / 7739
86
 (HPO:0001017) Anemic pallor 5 / 7739
87
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
88
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
89
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
90
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
91
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
92
 (HPO:0005344) Abnormality of the carotid arteries Occasional [Orphanet] 6 / 7739
93
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
94
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
95
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
96
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
97
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
98
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
99
 (HPO:0001896) Reticulocytopenia 12 / 7739
100
 (HPO:0001909) Leukemia 46 / 7739
101
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
102
 (HPO:0001871) Abnormality of blood and blood-forming tissues Very frequent [Orphanet] 37 / 7739
103
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
104
 (HPO:0001875) Neutropenia 83 / 7739
105
 (HPO:0001882) Leukopenia Very frequent [Orphanet] 51 / 7739
106
 (HPO:0002863) Myelodysplasia Occasional [Orphanet] 30 / 7739
107
 (HPO:0001876) Pancytopenia Very frequent [Orphanet] 89 / 7739
108
 (HPO:0003213) Deficient excision of UV-induced pyrimidine dimers in DNA 5 / 7739
109
 (HPO:0003214) Prolonged G2 phase of cell cycle 5 / 7739
110
 (HPO:0003221) Chromosomal breakage induced by crosslinking agents 8 / 7739
111
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
112
 (HPO:0002664) Neoplasm Frequent [Orphanet] 111 / 7739
113
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
114
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
115
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
116
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
117
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
118
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739
119
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: