FANCONI ANEMIA, COMPLEMENTATION GROUP L

General Information (adopted from Orphanet):

Synonyms, Signs: FANCL
Number of Symptoms 22
OrphanetNr:
OMIM Id: 614083
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:0000089) Renal hypoplasia rare [HPO:skoehler] 78 / 7739
2
(HPO:0000054) Micropenis rare [HPO:skoehler] 257 / 7739
3
(HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
4
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
5
(HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
6
(HPO:0000431) Wide nasal bridge rare [HPO:skoehler] 290 / 7739
7
(HPO:0000470) Short neck rare [HPO:skoehler] 345 / 7739
8
(HPO:0005280) Depressed nasal bridge rare [HPO:skoehler] 381 / 7739
9
(HPO:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
10
(HPO:0008551) Microtia rare [HPO:skoehler] 98 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0009777) Absent thumb rare [HPO:skoehler] 31 / 7739
13
(HPO:0002575) Tracheoesophageal fistula rare [HPO:skoehler] 54 / 7739
14
(HPO:0002023) Anal atresia rare [HPO:skoehler] 135 / 7739
15
(HPO:0002032) Esophageal atresia rare [HPO:skoehler] 19 / 7739
16
(HPO:0001511) Intrauterine growth retardation rare [HPO:skoehler] 358 / 7739
17
(HPO:0000957) Cafe-au-lait spot 84 / 7739
18
(HPO:0001903) Anemia 289 / 7739
19
(HPO:0005528) Bone marrow hypocellularity rare [HPO:skoehler] 31 / 7739
20
(HPO:0003220) Abnormality of chromosome stability 98 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 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 Meetei et al. (2003) detected little or no PHF9 protein in a cell line (EURA868) from an individual with Fanconi anemia of unassigned complementation group (subsequently designated FANCL). The phenotype of the cells from EURA868 resembled that of ...
Molecular genetics OMIM In a cell line (EUFA868) from an individual with Fanconi anemia of complementation group FANCL, Meetei et al. (2003) found little or no PHF9 protein. PHF9 cDNA from this cell line lacked exon 11, thus removing the conserved ...