| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (68.8%) |
9637428 |
New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. Giampietro PF, Auerbach AD, Elias ER, Gutman A, Zellers NJ, Davis JG. Am J Med Genet. 1998;78(1):70-5. |
| Absent thumb Short palpebral fissure | ||
| Child Child, Preschool Chromosome Breakage Congenital Hand Deformities Fanconi Anemia Females Fetal Growth Retardation Growth Disorders Homo sapiens Infant Male Pregnancy Syndrome Ultrasonography | ||
| 2 (64.3%) |
9934984 |
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. Am J Med Genet. 1999;82(2):170-6. |
| Bicoronal synostosis Unilateral radial aplasia | ||
| TWIST1 | ||
| p|SUB|E|181|X;RS#:104894058 rs104894058 rs1554441994 | ||
| Adult Craniosynostosis Facies Females Genetic Heterogeneity Homo sapiens Infant, Newborn Male Mutation Nuclear Proteins Syndrome Twist-Related Protein 1 | ||
| 3 (63.0%) |
15662710 |
Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings. Merrill A, Rosenblum-Vos L, Driscoll DA, Daley K, Treat K. Prenat Diagn. 2005;25(1):20-2. |
| Microcephaly Absent thumb | ||
| FANCC | ||
| Abortion, Eugenic Adult Amniocentesis Cultured Cells DNA Mutational Analysis Fanconi Anemia Females Genetic Carrier Screening Gestational Age Heterozygote Homo sapiens Homozygote Male Point Mutation Pregnancy Ultrasonography, Prenatal | ||
| 4 (58.8%) |
9147877 |
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. Wegner RD, Henrichs I, Joenje H, Schroeder-Kurth T. Clin Genet. 1996;50(6):479-82. |
| Brachycephaly Epicanthus Brachydactyly | ||
| FANCE | ||
| Cell Line, Transformed Chromosomes, Human Fanconi Anemia Fatal Outcome Fingers Genetic Complementation Test Homo sapiens Infant, Newborn Lymphocyte Male Phenotype | ||
| 5 (57.8%) |
29278735 |
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS. Eur J Med Genet. 2018;61(5):257-261. |
| Microcephaly Overlapping fingers | ||
| RAD51C | ||
| c|SUB|G|571+5|A;RS#:145779113 c|SUB|G|935|A;RS#:779834376 | ||
| Chromosome Breakage Cleft Palate Cultured Cells DNA-Binding Proteins Fanconi Anemia Females Holoprosencephaly Homo sapiens Homozygote Infant Mutation Phenotype | ||
| 6 (49.0%) |
14577674 |
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. Temtamy SA, Aglan MS, Nemat A, Eid M. Genet Couns. 2003;14(3):299-312. |
| Blue sclerae Absent thumb | ||
| Child, Preschool Craniosynostosis Differential Diagnosis Females Foot Deformities Genetic Counseling Homo sapiens Phenotype Syndrome | ||
| 7 (47.6%) |
25332553 |
Fanconi anemia with incidental haemoglobin e trait: the first reported case in literature. Chakrabarti I, Saha A, Guha Mallick Sinha M, Krishna Goswami B, Das M. Indian J Hematol Blood Transfus. 2014;30(Suppl 1):111-4. |
| Epistaxis Polydactyly | ||
| 7 (47.6%) |
24479055 (3894007) |
Oculoauriculovertebral spectrum with radial anomaly in child. Taksande A, Vilhekar K. J Family Med Prim Care. 2013;2(1):92-4. |
| Facial asymmetry Preaxial polydactyly | ||
| 9 (43.2%) |
17006268 |
Fanconi anemia patient with bilaterally hypoplastic scapula and unilateral winging associated with scoliosis and rib abnormality. Unal S, Gumruk F. J Pediatr Hematol Oncol. 2006;28(9):616-7. |
| Hypoplastic scapulae | ||
| Child Fanconi Anemia Females Functional Laterality Homo sapiens | ||
| 10 (40.9%) |
9096763 |
Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis. Rubinstein WS, Wenger SL, Hoffman RM, Auerbach AD, Mulvihill JJ. Am J Med Genet. 1997;69(3):315-9. |
| Sinusitis | ||
| SERPINA1 | ||
| Adult Age of Onset Fanconi Anemia Genetic Complementation Test Homo sapiens Lung Diseases, Interstitial Male Mutation Oxidative Stress |
Total: 106
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
| HP:0001172 | Abnormal thumb morphology | Very frequent (99-80%) |
| HP:0001871 | Abnormality of blood and blood-forming tissues | Very frequent (99-80%) |
| HP:0001873 | Thrombocytopenia | Very frequent (99-80%) |
| HP:0001882 | Leukopenia | Very frequent (99-80%) |
| HP:0001903 | Anemia | Very frequent (99-80%) |
| HP:0002817 | Abnormality of the upper limb | Very frequent (99-80%) |
| HP:0003220 | Abnormality of chromosome stability | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005522 | Pyridoxine-responsive sideroblastic anemia | Very frequent (99-80%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0000079 | Abnormality of the urinary system | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002664 | Neoplasm | Frequent (79-30%) |
| HP:0007874 | Almond-shaped palpebral fissure | Frequent (79-30%) |
| HP:0012210 | Abnormal renal morphology | Frequent (79-30%) |
| HP:0012745 | Short palpebral fissure | Frequent (79-30%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
| HP:0000027 | Azoospermia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000035 | Abnormal testis morphology | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
| HP:0000135 | Hypogonadism | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000340 | Sloping forehead | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000364 | Hearing abnormality | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000478 | Abnormality of the eye | Occasional (29-5%) |
| HP:0000483 | Astigmatism | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000492 | Abnormal eyelid morphology | Occasional (29-5%) |
| HP:0000504 | Abnormality of vision | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000813 | Bicornuate uterus | Occasional (29-5%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Occasional (29-5%) |
| HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
| HP:0001347 | Hyperreflexia | Occasional (29-5%) |
| HP:0001392 | Abnormality of the liver | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001562 | Oligohydramnios | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001646 | Abnormal aortic valve morphology | Occasional (29-5%) |
| HP:0001679 | Abnormal aortic morphology | Occasional (29-5%) |
| HP:0001760 | Abnormality of the foot | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001824 | Weight loss | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002245 | Meckel diverticulum | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002414 | Spina bifida | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
| HP:0002823 | Abnormality of femur morphology | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0002863 | Myelodysplasia | Occasional (29-5%) |
| HP:0002997 | Abnormality of the ulna | Occasional (29-5%) |
| HP:0003022 | Hypoplasia of the ulna | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0005344 | Abnormal carotid artery morphology | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006265 | Aplasia/Hypoplasia of fingers | Occasional (29-5%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0008053 | Aplasia/Hypoplasia of the iris | Occasional (29-5%) |
| HP:0008572 | External ear malformation | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010293 | Aplasia/Hypoplasia of the uvula | Occasional (29-5%) |
| HP:0010469 | Absent testis | Occasional (29-5%) |
| HP:0012041 | Decreased fertility in males | Occasional (29-5%) |
| HP:0012639 | Abnormality of nervous system morphology | Occasional (29-5%) |
| HP:0100026 | Arteriovenous malformation | Occasional (29-5%) |
| HP:0100542 | Abnormal localization of kidney | Occasional (29-5%) |
| HP:0100587 | Abnormality of the preputium | Occasional (29-5%) |
| HP:0100760 | Clubbing of toes | Occasional (29-5%) |
| HP:0100867 | Duodenal stenosis | Occasional (29-5%) |
Total: 64
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001876 | Pancytopenia | 8 |
| HP:0001909 | Leukemia | 6 |
| HP:0004322 | Short stature | 6 |
| HP:0000252 | Microcephaly | 5 |
| HP:0002488 | Acute leukemia | 5 |
| HP:0040012 | Chromosome breakage | 4 |
| HP:0001873 | Thrombocytopenia | 3 |
| HP:0001903 | Anemia | 3 |
| HP:0000486 | Strabismus | 2 |
| HP:0000957 | Cafe-au-lait spot | 2 |
| HP:0001875 | Neutropenia | 2 |
| HP:0001905 | Congenital thrombocytopenia | 2 |
| HP:0002664 | Neoplasm | 2 |
| HP:0002860 | Squamous cell carcinoma | 2 |
| HP:0002863 | Myelodysplasia | 2 |
| HP:0007902 | Vitreous hemorrhage | 2 |
| HP:0010442 | Polydactyly | 2 |
| HP:0030413 | Squamous cell carcinoma of the tongue | 2 |
| HP:0031273 | Shock | 2 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000465 | Webbed neck | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0000739 | Anxiety | 1 |
| HP:0000786 | Primary amenorrhea | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000882 | Hypoplastic scapulae | 1 |
| HP:0001045 | Vitiligo | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001889 | Megaloblastic anemia | 1 |
| HP:0001891 | Iron deficiency anemia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002301 | Hemiplegia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0009777 | Absent thumb | 1 |
| HP:0009829 | Phocomelia | 1 |
| HP:0010280 | Stomatitis | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0012118 | Laryngeal carcinoma | 1 |
| HP:0012324 | Myeloid leukemia | 1 |
| HP:0012387 | Bronchitis | 1 |
| HP:0025439 | Pharyngitis | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0030666 | Retinal neovascularization | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0031846 | Femur fracture | 1 |
| HP:0032323 | Periodic fever | 1 |
| HP:0100806 | Sepsis | 1 |
| HP:0200024 | Premature chromatid separation | 1 |
Total: 22
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| RAD51 | RAD51 recombinase | 5888 |
| MAD2L2 | mitotic arrest deficient 2 like 2 | 10459 |
| BRCA1 | BRCA1 DNA repair associated | 672 |
| XRCC2 | X-ray repair cross complementing 2 | 7516 |
| RFWD3 | ring finger and WD repeat domain 3 | 55159 |
| BRCA2 | BRCA2 DNA repair associated | 675 |
| BRIP1 | BRCA1 interacting protein C-terminal helicase 1 | 83990 |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | 2072 |
| FANCA | FA complementation group A | 2175 |
| FANCB | FA complementation group B | 2187 |
| FANCC | FA complementation group C | 2176 |
| FANCD2 | FA complementation group D2 | 2177 |
| FANCE | FA complementation group E | 2178 |
| FANCF | FA complementation group F | 2188 |
| FANCG | FA complementation group G | 2189 |
| FANCL | FA complementation group L | 55120 |
| FANCM | FA complementation group M | 57697 |
| FANCI | FA complementation group I | 55215 |
| PALB2 | partner and localizer of BRCA2 | 79728 |
| RAD51C | RAD51 paralog C | 5889 |
| SLX4 | SLX4 structure-specific endonuclease subunit | 84464 |
| UBE2T | ubiquitin conjugating enzyme E2 T | 29089 |