Aliases & Classifications for Fazio-Londe Disease

MalaCards integrated aliases for Fazio-Londe Disease:

Name: Fazio-Londe Disease 57 75 13
Progressive Bulbar Palsy of Childhood 29 6
Fazio-Londe Syndrome 75 73
Bulbar Palsy, Progressive, of Childhood 57
Bulbar Palsy of Childhood, Progressive 40
Bulbar Palsy Progressive of Childhood 75
Falond 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fazio-londe disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 211500
MeSH 44 D010244
UMLS 73 C0015708

Summaries for Fazio-Londe Disease

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Fazio-Londe Disease, also known as progressive bulbar palsy of childhood, is related to riboflavin transporter deficiency neuronopathy and brown-vialetto-van laere syndrome 1. An important gene associated with Fazio-Londe Disease is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include tongue and brain, and related phenotypes are ptosis and bulbar palsy

OMIM : 57 Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011). (211500)

Wikipedia : 76 Fazio–Londe disease (FLD), also called progressive bulbar palsy of childhood, is a very rare inherited... more...

Related Diseases for Fazio-Londe Disease

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 riboflavin transporter deficiency neuronopathy 11.3
2 brown-vialetto-van laere syndrome 1 10.3
3 brown-vialetto-van laere syndrome 10.3
4 riboflavin transporter deficiency 10.3
5 giant axonal neuropathy 1, autosomal recessive 10.2
6 aging 10.2
7 motor neuron disease 10.2
8 axonal neuropathy 10.2
9 neuronitis 10.2
10 neuropathy 10.2
11 giant axonal neuropathy 10.2
12 progressive bulbar palsy 9.9

Graphical network of the top 20 diseases related to Fazio-Londe Disease:



Diseases related to Fazio-Londe Disease

Symptoms & Phenotypes for Fazio-Londe Disease

Symptoms via clinical synopsis from OMIM:

57
Neuro:
bulbar palsy
swallowing difficulty
bilateral facial weakness
absent gag reflex
generalized hyperreflexia
more
Eyes:
ptosis

Respiratory:
progressive inspiratory stridor
diminished diaphragmatic motion


Clinical features from OMIM:

211500

Human phenotypes related to Fazio-Londe Disease:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 bulbar palsy 32 HP:0001283
3 facial diplegia 32 HP:0001349
4 dysphagia 32 HP:0002015
5 progressive inspiratory stridor 32 HP:0005951
6 generalized hyperreflexia 32 HP:0007034
7 diaphragmatic weakness 32 HP:0009113

Drugs & Therapeutics for Fazio-Londe Disease

Search Clinical Trials , NIH Clinical Center for Fazio-Londe Disease

Genetic Tests for Fazio-Londe Disease

Genetic tests related to Fazio-Londe Disease:

# Genetic test Affiliating Genes
1 Progressive Bulbar Palsy of Childhood 29 SLC52A3

Anatomical Context for Fazio-Londe Disease

MalaCards organs/tissues related to Fazio-Londe Disease:

41
Tongue, Brain

Publications for Fazio-Londe Disease

Articles related to Fazio-Londe Disease:

# Title Authors Year
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

ClinVar genetic disease variations for Fazio-Londe Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A3 SLC52A3, 1198A-C, -2 single nucleotide variant Pathogenic

Expression for Fazio-Londe Disease

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

Pathways for Fazio-Londe Disease

GO Terms for Fazio-Londe Disease

Sources for Fazio-Londe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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