NF1 gene related symptoms and diseases

All the information presented here about the NF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to NF1 gene

Symptoms // Phenotype	% Cases
Neurofibromas	Common - Between 50% and 80% cases
Short stature	Common - Between 50% and 80% cases
Multiple cafe-au-lait spots	Common - Between 50% and 80% cases
Cafe-au-lait spot	Common - Between 50% and 80% cases
Lisch nodules	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NF1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Macrocephaly
Ptosis
Specific learning disability
Intellectual disability
Axillary freckling
Hypertelorism
Scoliosis
Pulmonic stenosis

And 203 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NF1 gene

Here you will find a list of rare diseases related to the NF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

Generalized hypotonia
Abnormal facial shape
Anemia
Anteverted nares
Splenomegaly

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET MESH OMIM

17Q11 MICRODELETION SYNDROME

Alternate names

17Q11 MICRODELETION SYNDROME Is also known as neurofibromatosis type 1 microdeletion syndrome, del(17)(q11), monosomy 17q11, nf1 microdeletion syndrome

Description

17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.

More info about 17Q11 MICRODELETION SYNDROME

SOURCES: ORPHANET

17Q11.2 MICRODUPLICATION SYNDROME

Alternate names

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2, nf1 microdeletion syndrome, van asperen syndrome, grisart-destrÉe syndrome, dup(17)(q11.2), neurofibromatosis 1 microdeletion syndrome

Description

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

Most common symptoms of 17Q11.2 MICRODUPLICATION SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about 17Q11.2 MICRODUPLICATION SYNDROME

SOURCES: ORPHANET OMIM

NEUROFIBROMATOSIS-NOONAN SYNDROME

Alternate names

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns, neurofibromatosis type 1-noonan syndrome

Description

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

Most common symptoms of NEUROFIBROMATOSIS-NOONAN SYNDROME

Short stature
Hypertelorism
Cryptorchidism
Ptosis
Downslanted palpebral fissures

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

SOURCES: ORPHANET

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Alternate names

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype, noonan-neurofibromatosis syndrome

Most common symptoms of NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Global developmental delay
Short stature
Scoliosis
Hypertelorism
Muscle weakness

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

SOURCES: ORPHANET OMIM

WATSON SYNDROME; WTSN

Alternate names

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis, pulmonic stenosis with cafe-au-lait spots

Description

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

Most common symptoms of WATSON SYNDROME; WTSN

Intellectual disability
Short stature
Hearing impairment
Macrocephaly
Pulmonic stenosis

More info about WATSON SYNDROME; WTSN

SOURCES: OMIM

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Alternate names

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion, neurofibromatosis, peripheral type, von recklinghausen disease

Description

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

Most common symptoms of NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Intellectual disability
Seizures
Short stature
Scoliosis
Hypertelorism

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

SOURCES: ORPHANET OMIM

NEUROFIBROMATOSIS, FAMILIAL SPINAL

Alternate names

NEUROFIBROMATOSIS, FAMILIAL SPINAL Is also known as fsnf

Description

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).

Most common symptoms of NEUROFIBROMATOSIS, FAMILIAL SPINAL

Intellectual disability
Scoliosis
Neoplasm
Pain
Difficulty walking

More info about NEUROFIBROMATOSIS, FAMILIAL SPINAL

SOURCES: MESH OMIM

Search interest in NF1

Potential gene panels for NF1 gene

Neurofibromatosis Type 1 Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NF1 gene.

NF1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NF1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to NF1 gene

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

17Q11 MICRODELETION SYNDROME

Alternate names

Description

17Q11.2 MICRODUPLICATION SYNDROME

Alternate names

Description

Most common symptoms of 17Q11.2 MICRODUPLICATION SYNDROME

NEUROFIBROMATOSIS-NOONAN SYNDROME

Alternate names

Description

Most common symptoms of NEUROFIBROMATOSIS-NOONAN SYNDROME

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Alternate names

Most common symptoms of NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

WATSON SYNDROME; WTSN

Alternate names

Description

Most common symptoms of WATSON SYNDROME; WTSN

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Alternate names

Description

Most common symptoms of NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

NEUROFIBROMATOSIS, FAMILIAL SPINAL

Alternate names

Description

Most common symptoms of NEUROFIBROMATOSIS, FAMILIAL SPINAL

Search interest in NF1

Potential gene panels for NF1 gene

Neurofibromatosis Type 1 Deletion Test Panel

Neurofibromatosis Type 1 (NF1) Evaluation Panel

Neurofibromatosis Type 1 DNA Sequencing Test Panel

NGS RASopathy Panel Panel

Neurofibromatosis Syndrome Type 1 Panel

Neurofibromatosis-Noonan syndrome Panel

Neurofibromatosis 1 Sequencing Panel

Neurofibromatosis 1 Deletion/Duplication analysis Panel

Juvenile Myelomonocytic Leukemia Panel

Inherited Cancer Panel Panel

VisaSeq Breast and GYN Cancer Panel Panel

VistaSeq Breast Cancer Panel Panel

VistaSeq Brain/CNS/PNS Cancer Panel Panel

VistaSeq Endrocrine Cancer Panel Panel

Neurofibromatosis1 Panel

Noonan Spectrum Panel Panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Hereditary Leukemia and Breast Cancer Panel Panel

Hereditary Pheochromocytoma and Paraganglioma Panel Panel

Noonan Syndrome Sequencing Panel Panel

Noonan Syndrome Deletion/Duplication Panel Panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

NF1 Panel

PulmoGene Panel (64 Genes) Panel

Expanded RASopathy Panel (14 Genes) Panel

NEUROFIBROMATOSIS, TYPE I; NF1 Panel

Legius Syndrome (SPRED1) Sequencing Panel

Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Panel

Neurofibromatosis Type 1 (NF1) Sequencing Panel

Neurofibromatosis Type 1 (NF1) Deletion/Duplication Panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel Panel

Hereditary Cancer Panel - Breast/Ovarian/Uterine28 Panel

Noonan syndrome/RASopathy Disorders Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

Hereditary Cancer Panel - Neuro17 Panel

Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 Panel

Hereditary Cancer Panel- Comprehensive63 Panel

BrainTumorNext Panel

BreastNext Panel

CancerNext-Expanded Panel

CancerNext Panel