MCID: FZL002
MIFTS: 30

Fazio-Londe Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Fazio-Londe Disease

About this section

Aliases & Descriptions for Fazio-Londe Disease:

Name: Fazio-Londe Disease 49 11 45 67
Progressive Bulbar Palsy of Childhood 22 24
Fazio Londe Syndrome 45 22
Fazio-Londe Syndrome 65 67
Bulbar Hereditary Motor Neuronopathy Type Ii 45
 
Progressive Bulbar Paralysis of Childhood 45
Bulbar Palsy Progressive of Childhood 67
Childhood Progressive Bulbar Palsy 65
Bulbar Hmn Ii 45
Falond 67


Classifications:



External Ids:

OMIM49 211500
MeSH36 D010244

Summaries for Fazio-Londe Disease

About this section
NIH Rare Diseases:45 Fazio londe syndrome is a rare, progressive neurological disorder characterized by bulbar palsy, muscle weakness, facial weakness, and difficulty breathing. progressive bulbar palsy involves the brain stem, the part of the brain containing lower motor neurons needed for swallowing, speaking, chewing, and other functions. symptoms of progressive bulbar palsy include swallowing difficulty, weak jaw and facial muscles, progressive loss of speech, and abnormal movements of the tongue. weakness in the limbs and unsteady gait may also occur. the age of onset of fazio londe syndrome can vary, but symptoms typically start in infancy or childhood before 8-years of age. a few patients in their 20's have been reported. the disease is inherited in an autosomal recessive manner.  in many patients with fazio londe syndrome, disease-causing mutations have been found in the genes slc52a2 and slc52a3. these genes provide instructions for making riboflavin transporter proteins (rfts). rfts play an important role in the absorption of riboflavin in the small intestine after we eat, such that the vitamin can be used in the body. high-dose oral supplementation with riboflavin has been shown to greatly improve symptoms in many patients.  last updated: 6/17/2015

MalaCards based summary: Fazio-Londe Disease, also known as progressive bulbar palsy of childhood, is related to brown-vialetto-van laere syndrome and riboflavin transporter deficiency, and has symptoms including autosomal recessive inheritance, ptosis and bulbar palsy. An important gene associated with Fazio-Londe Disease is SLC52A3 (Solute Carrier Family 52 (Riboflavin Transporter), Member 3). Affiliated tissues include tongue, brain and small intestine.

OMIM:49 Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory... (211500) more...

UniProtKB/Swiss-Prot:67 Fazio-Londe disease: A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.

Related Diseases for Fazio-Londe Disease

About this section

Diseases related to Fazio-Londe Disease via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome10.5
2riboflavin transporter deficiency10.4
3motor neuron disease10.4
4neuronitis10.4
5axonal neuropathy10.4
6neuropathy10.4
7giant axonal neuropathy10.4
8progressive bulbar palsy10.3

Graphical network of diseases related to Fazio-Londe Disease:



Diseases related to fazio-londe disease

Symptoms for Fazio-Londe Disease

About this section

Symptoms by clinical synopsis from OMIM:

211500

Clinical features from OMIM:

211500

HPO human phenotypes related to Fazio-Londe Disease:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 ptosis HP:0000508
3 bulbar palsy HP:0001283
4 facial diplegia HP:0001349
5 dysphagia HP:0002015
6 progressive inspiratory stridor HP:0005951
7 generalized hyperreflexia HP:0007034
8 diaphragmatic weakness HP:0009113

Drugs & Therapeutics for Fazio-Londe Disease

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fazio-Londe Disease

Genetic Tests for Fazio-Londe Disease

About this section

Genetic tests related to Fazio-Londe Disease:

id Genetic test Affiliating Genes
1 Fazio-Londe Disease22 SLC52A3
2 Progressive Bulbar Palsy of Childhood24

Anatomical Context for Fazio-Londe Disease

About this section

MalaCards organs/tissues related to Fazio-Londe Disease:

33
Tongue, Brain, Small intestine

Animal Models for Fazio-Londe Disease or affiliated genes

About this section

Publications for Fazio-Londe Disease

About this section

Articles related to Fazio-Londe Disease:

idTitleAuthorsYear
1
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
2
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
3
Progressive bulbur paralysis (Fazio-Londe disease). (14979395)
2004
4
Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. (1486466)
1992
5
Progressive bulbar paralysis of childhood (Fazio-Londe disease). (7160909)
1982
6
Progressive bulbar paralysis of childhood (Fazio-Londe disease) with deafness. Case report with clinicopathologic correlation. (7094955)
1982
7
Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease. (581901)
1979

Variations for Fazio-Londe Disease

About this section

Clinvar genetic disease variations for Fazio-Londe Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC52A3SLC52A3, 1198A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Fazio-Londe Disease

About this section
Search GEO for disease gene expression data for Fazio-Londe Disease.

Pathways for genes affiliated with Fazio-Londe Disease

About this section

GO Terms for genes affiliated with Fazio-Londe Disease

About this section

Sources for Fazio-Londe Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet