SUFU gene related symptoms and diseases

All the information presented here about the SUFU gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, 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 SUFU gene

Symptoms // Phenotype	% Cases
Neoplasm	Common - Between 50% and 80% cases
Hypertelorism	Uncommon - Between 30% and 50% cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Ataxia	Uncommon - Between 30% and 50% cases
Medulloblastoma	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

Not very common - Between 30% and 50% cases
Macrocephaly
Frontal bossing
Polydactyly
Cryptorchidism
Postaxial polydactyly
Rarely - Less than 30% cases
Glaucoma
Iris coloboma
Arachnodactyly

And 185 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SUFU gene

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

JOUBERT SYNDROME 32; JBTS32

Description

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Most common symptoms of JOUBERT SYNDROME 32; JBTS32

Intellectual disability
Seizures
Global developmental delay
Ataxia
Hypertelorism

More info about JOUBERT SYNDROME 32; JBTS32

SOURCES: OMIM

ACROCALLOSAL SYNDROME

Alternate names

ACROCALLOSAL SYNDROME Is also known as acs

Description

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

Most common symptoms of ACROCALLOSAL SYNDROME

Intellectual disability
Global developmental delay
Generalized hypotonia
Ataxia
Hypertelorism

More info about ACROCALLOSAL SYNDROME

SOURCES: ORPHANET OMIM

GORLIN SYNDROME

Alternate names

GORLIN SYNDROME Is also known as nbccs, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome

Description

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

Most common symptoms of GORLIN SYNDROME

Intellectual disability
Scoliosis
Hypertelorism
Neoplasm
Strabismus

More info about GORLIN SYNDROME

SOURCES: ORPHANET

BASAL CELL NEVUS SYNDROME; BCNS

Alternate names

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome, gorlin syndrome, nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Most common symptoms of BASAL CELL NEVUS SYNDROME; BCNS

Intellectual disability
Hearing impairment
Microcephaly
Scoliosis
Ataxia

More info about BASAL CELL NEVUS SYNDROME; BCNS

SOURCES: OMIM

MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

Description

Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001).Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (OMIM ), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2 ) associated with a mutation in the PTEN gene (OMIM ) developed a meningioma (Staal et al., 2002).

Most common symptoms of MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

Neoplasm
Meningioma
Medulloblastoma
Neoplasm of the central nervous system

More info about MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

SOURCES: OMIM MESH

GASTROINTESTINAL STROMAL TUMOR

Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

Neoplasm
Pain
Anemia
Fever
Fatigue

More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Description

Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.

Most common symptoms of DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Neoplasm
Carcinoma
Nevus
Basal cell carcinoma
Colon cancer

More info about DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

SOURCES: ORPHANET OMIM

MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY

Alternate names

MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY Is also known as mben

Description

Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.

More info about MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY

SOURCES: ORPHANET

FAMILIAL MULTIPLE MENINGIOMA

Description

Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.

More info about FAMILIAL MULTIPLE MENINGIOMA

SOURCES: ORPHANET

Search interest in SUFU

Potential gene panels for SUFU gene

Hereditary Brain, CNS, PNS Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2

SUFU gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SUFU gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to SUFU gene

JOUBERT SYNDROME 32; JBTS32

Description

Most common symptoms of JOUBERT SYNDROME 32; JBTS32

ACROCALLOSAL SYNDROME

Alternate names

Description

Most common symptoms of ACROCALLOSAL SYNDROME

GORLIN SYNDROME

Alternate names

Description

Most common symptoms of GORLIN SYNDROME

BASAL CELL NEVUS SYNDROME; BCNS

Alternate names

Most common symptoms of BASAL CELL NEVUS SYNDROME; BCNS

MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

Description

Most common symptoms of MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

GASTROINTESTINAL STROMAL TUMOR

Alternate names

Description

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Description

Most common symptoms of DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY

Alternate names

Description

FAMILIAL MULTIPLE MENINGIOMA

Description

Search interest in SUFU

Potential gene panels for SUFU gene

Hereditary Brain, CNS, PNS Cancer Panel Panel

Hereditary Brain, CNS, PNS Cancer Panel Panel

Comprehensive Hereditary Cancer Panel Panel

VistaSeq Brain/CNS/PNS Cancer Panel Panel

Hereditary Cancer Panel, Sequencing and Deletion/Duplication Panel

Hereditary Cancer Panel - Neuro17 Panel

Hereditary Cancer Panel- Comprehensive63 Panel

BrainTumorNext Panel

CancerNext-Expanded Panel

CustomNext: Cancer Panel

SUFU. Complete sequencing Panel

Hereditary Brain Tumor Panel Panel

Medulloblastoma, desmoplastic (sequence analysis of SUFU gene) Panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Meningiomatosis/ Multiple Meningioma NGS Panel Panel

Cancer Sequencing Panel with CNV Detection Panel

Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via SUFU Gene Sequencing with CNV Detection Panel

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

Basal cell nevus syndrome Deletion/ Duplication panel Panel

Basal cell nevus syndrome Comprehensive panel Panel

Basal cell nevus syndrome NGS panel Panel

Joubert syndrome and related disorders NGS panel Panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

Joubert syndrome and related disorders Comprehensive panel Panel

Basal cell nevus syndrome - SUFU Comprehensive test Panel

Basal cell nevus syndrome - SUFU NGS test Panel

Basal cell nevus syndrome - SUFU Deletion / Duplication test Panel

Hereditary Cancer Syndromes - panels Panel

Basal cell nevus syndrome Panel

Meningioma, familial, susceptibility to Panel

Medulloblastoma, desmoplastic, familial Panel

Single gene testing SUFU Panel

SUFU Panel

Cancer Predisposition Panel

FAMILIAL MULTIPLE MENINGIOMA Panel

Invitae Sarcoma Panel Panel

Invitae Multi-Cancer Panel Panel

Invitae Nervous System/Brain Cancer Panel Panel

Invitae Pediatric Nervous System/Brain Tumors Panel Panel

Invitae Pediatric Solid Tumors Panel Panel

Invitae Basal Cell Nevus Syndrome Panel Panel

Meningioma, familial: SUFU gene sequence analysis Panel

Hereditary Cancer Syndrome: Sequencing Panel Panel