FANCONI ANEMIA, COMPLEMENTATION GROUP I

General Information (adopted from Orphanet):

Synonyms, Signs: FANCI
Number of Symptoms 6
OrphanetNr:
OMIM Id: 609053
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:0012210) Abnormal renal morphology Rare [HPO:probinson] 17452773 IBIS 18 / 7739
2
(HPO:0004322) Short stature 7/7 [HPO:probinson] 17452773 IBIS 1232 / 7739
3
(HPO:0005528) Bone marrow hypocellularity 7/7 [HPO:probinson] 17452773 IBIS 31 / 7739
4
(HPO:0003221) Chromosomal breakage induced by crosslinking agents 7/7 [HPO:probinson] 17452773 IBIS 8 / 7739
5
(HPO:0030680) Abnormality of cardiovascular system morphology Rare [HPO:probinson] 355 / 7739
6
(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 Levitus et al. (2004) provided a tabulation of 11 genetically distinct FA subtypes. They reported 8 unrelated FA patients who were excluded from the known subtypes on the basis of phenotypic correction (complementation) or genetic data. Four of ...
Molecular genetics OMIM Dorsman et al. (2007) identified several mutations in the FANCI gene (e.g., 611360.0001 to 611360.0004) in 8 patients with FA complementation group I. Western blot analysis confirmed that functionally active FANCI protein was absent in patients with FA ...