NEUROFIBROMATOSIS, FAMILIAL SPINAL

General Information (adopted from Orphanet):

Synonyms, Signs: FSNF
Number of Symptoms 13
OrphanetNr:
OMIM Id: 162210
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009737) Lisch nodules 10 / 7739
2
(HPO:0010302) Spinal cord tumor obligate [HPO:skoehler] 5 / 7739
3
(HPO:0002385) Paraparesis 12 / 7739
4
(HPO:0006851) Symmetric spinal nerve root neurofibromas 1 / 7739
5
(HPO:0001480) Freckling 13 / 7739
6
(HPO:0000957) Cafe-au-lait spot 84 / 7739
7
(HPO:0007340) Lower limb muscle weakness 61 / 7739
8
(OMIM) Freckling may or may not be present 1 / 7739
9
(OMIM) Lisch nodules (iris hamartomas) may or may not be present 1 / 7739
10
(OMIM) Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Neurofibromas may or may not be present 1 / 7739
13
(OMIM) Cafe-au-lait spots may or may not be present 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pulst et al. (1991) reported 2 families with spinal neurofibromatosis. The first family also had cafe-au-lait spots, whereas the second family had no cafe-au-lait spots. Other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis type II (NF2; 101000), ...
Molecular genetics OMIM In affected members of a family with spinal neurofibromatosis, Ars et al. (1998) identified a frameshift mutation in the NF1 gene (613113.0018).

In affected members of 2 families with spinal neurofibromas but no cafe-au-lait macules, Kaufmann ...