FANCONI ANEMIA, COMPLEMENTATION GROUP N

General Information (adopted from Orphanet):

Synonyms, Signs: FANCN
Number of Symptoms 14
OrphanetNr:
OMIM Id: 610832
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002667) Nephroblastoma Rare [HPO:probinson] 30 / 7739
2
(HPO:0000286) Epicanthus 371 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000470) Short neck 345 / 7739
6
(HPO:0002885) Medulloblastoma 20 / 7739
7
(HPO:0003006) Neuroblastoma Rare [HPO:probinson] 16 / 7739
8
(HPO:0009778) Short thumb 50 / 7739
9
(HPO:0008897) Postnatal growth retardation 113 / 7739
10
(HPO:0000957) Cafe-au-lait spot 84 / 7739
11
(HPO:0001629) Ventricular septal defect 316 / 7739
12
(HPO:0001915) Aplastic anemia 16 / 7739
13
(HPO:0003221) Chromosomal breakage induced by crosslinking agents 8 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of ...
Clinical Description OMIM Xia et al. (2007) described a female patient with a severe and unclassified form of Fanconi anemia. She was born after an uneventful pregnancy of 40 weeks, with low birth weight. Congenital abnormalities included microcephaly, hypertelorism, short neck, ...
Molecular genetics OMIM Xia et al. (2007) and Reid et al. (2007) identified pathogenic mutations in the PALB2 gene (610355) in patients with FANCN. The patient described by Xia et al. (2007) showed normal monoubiquitination of FANCD2 (227646) and no detected ...