Fanconi pancytopenia syndrome

disorder

SNOMED 30575002CUI C0015625

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Fanconi Anemia" from the MEDLINE/PubMed database.

Sort:

Dental and Craniofacial Anomalies in Fanconi Anemia: A Systematic Review and Additional 46 Reports.

[object Object], [object Object], [object Object] et al. · Oral Dis · 2025

PMID: 39568270Meta-Analysis

Oral cancer and oral potentially malignant disorders in patients with Fanconi anemia - A systematic review.

[object Object], [object Object], [object Object] et al. · Oral Oncol · 2024

PMID: 38309198Meta-Analysis

Longitudinal clinical manifestations of Fanconi anemia: A systematized review.

[object Object], [object Object], [object Object] et al. · Blood Rev · 2024

PMID: 39107201Meta-AnalysisFull text (PMC)

Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Head Neck · 2022

PMID: 36114663Meta-Analysis

Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions.

[object Object], [object Object], [object Object] et al. · Hematol Oncol Stem Cell Ther · 2021

PMID: 33736979Meta-Analysis

Treatment of Fanconi Anemia-Associated Head and Neck Cancer: Opportunities to Improve Outcomes.

[object Object], [object Object], [object Object] et al. · Clin Cancer Res · 2021

PMID: 34045293Meta-AnalysisFull text (PMC)

Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization.

[object Object], [object Object], [object Object] et al. · Ann Hematol · 2020

PMID: 32065290Meta-AnalysisFull text (PMC)

Systematic review and individual patient data analysis of pediatric head and neck squamous cell carcinoma: An analysis of 217 cases.

[object Object], [object Object], [object Object] et al. · Int J Pediatr Otorhinolaryngol · 2017

PMID: 28012539Meta-Analysis

The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers.

[object Object] · BMC Cancer · 2007

PMID: 17683622Meta-AnalysisFull text (PMC)

Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.

[object Object], [object Object], [object Object] et al. · J Natl Cancer Inst · 2016

PMID: 26848151RCTFull text (PMC)

Search all PubMed articles for Fanconi pancytopenia syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal skin colour

Very frequent (80-99%)HP:0001000

Abnormality of chromosome stability

Very frequent (80-99%)HP:0003220

Abnormality of the arm

Very frequent (80-99%)HP:0002817

Abnormality of the thumbs

Very frequent (80-99%)HP:0001172

Absent/underdeveloped radius

Very frequent (80-99%)HP:0006501

Decreased body height

Very frequent (80-99%)HP:0004322

Hematologic disease

Very frequent (80-99%)HP:0001871

Hypopigmented skin patches

Very frequent (80-99%)HP:0001053

Irregular hyperpigmentation

Very frequent (80-99%)HP:0007400

Leukopenia

Very frequent (80-99%)HP:0001882

Low number of red blood cells or haemoglobin

Very frequent (80-99%)HP:0001903

Low platelet count

Very frequent (80-99%)HP:0001873

Pyridoxine-responsive sideroblastic anemia

Very frequent (80-99%)HP:0005522

Abnormality of the urinary system

Frequent (30-79%)HP:0000079

Almond shaped eyes

Frequent (30-79%)HP:0007874

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased size of cranium

Frequent (30-79%)HP:0000252

Heart septal defect

Frequent (30-79%)HP:0001671

Kidney malformation

Frequent (30-79%)HP:0012210

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental-retardation

Frequent (30-79%)HP:0001249

Oncology

Frequent (30-79%)HP:0002664

Short palpebral fissure

Frequent (30-79%)HP:0012745

Abnormal aortic morphology

Occasional (5-29%)HP:0001679

Abnormal aortic valve morphology

Occasional (5-29%)HP:0001646

Abnormal connection between trachea and esophagus

Occasional (5-29%)HP:0002575

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal localization of kidney

Occasional (5-29%)HP:0100542

Abnormal morphology of ulna

Occasional (5-29%)HP:0040071

Abnormal preputium morphology

Occasional (5-29%)HP:0100587

Related Conditions

Estren-Dameshek anemia(child)

Fanconi anemia of complementation group C(child)

Hereditary thrombocytopenic disorder(parent)

Hereditary white blood cell disorder(parent)

Hereditary neoplastic syndrome(parent)

Constitutional aplastic anemia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 30575002
UMLS CUI: C0015625
Fully Specified Name: Fanconi's anemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.