MCID: NTH002
MIFTS: 22

Nathalie Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Nathalie Syndrome

MalaCards integrated aliases for Nathalie Syndrome:

Name: Nathalie Syndrome 56 52 58 71
Deafness, Cataract, Muscular Atrophy, Skeletal Abnormalities, Growth Retardation, Underdeveloped Secondary Sexual Characteristics 52
Sensorineural Hearing Loss-Cataract-Skeletal Anomalies-Cardiomyopathy Syndrome 58
Deafness-Cataract-Skeletal Anomalies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
nathalie syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
nathalie syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 255990
MESH via Orphanet 44 C538342
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1850626
Orphanet 58 ORPHA2663
MedGen 41 C1850626
UMLS 71 C1850626

Summaries for Nathalie Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2663 Definition A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract , underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Visit the Orphanet disease page for more resources.

MalaCards based summary : Nathalie Syndrome, also known as deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, is related to muscular atrophy and fazio-londe disease. Affiliated tissues include heart, eye and skeletal muscle, and related phenotypes are cataract and sensorineural hearing impairment

More information from OMIM: 255990

Related Diseases for Nathalie Syndrome

Diseases related to Nathalie Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular atrophy 10.3
2 fazio-londe disease 10.1
3 branchiootic syndrome 1 10.1
4 spinal muscular atrophy 10.1
5 dilated cardiomyopathy 10.1
6 cataract 10.1

Graphical network of the top 20 diseases related to Nathalie Syndrome:



Diseases related to Nathalie Syndrome

Symptoms & Phenotypes for Nathalie Syndrome

Human phenotypes related to Nathalie Syndrome:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
5 hearing impairment 31 HP:0000365
6 skeletal muscle atrophy 31 HP:0003202
7 growth delay 31 HP:0001510
8 abnormality of the genitourinary system 31 HP:0000119
9 abnormal ekg 31 HP:0003115

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
cataract
deafness

Muscle:
muscular atrophy

G U:
sexual development retarded

Cardiac:
abnormal ekg

Growth:
growth retardation

Clinical features from OMIM:

255990

Drugs & Therapeutics for Nathalie Syndrome

Search Clinical Trials , NIH Clinical Center for Nathalie Syndrome

Genetic Tests for Nathalie Syndrome

Anatomical Context for Nathalie Syndrome

MalaCards organs/tissues related to Nathalie Syndrome:

40
Heart, Eye, Skeletal Muscle, Bone

Publications for Nathalie Syndrome

Articles related to Nathalie Syndrome:

# Title Authors PMID Year
1
The Nathalie syndrome. A new hereditary syndrome. 61 56
1204231 1975
2
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. 61
24139842 2013
3
Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome. 61
22487897 2012
4
Brown-Vialetto-Van Laere syndrome. 61
18416855 2008

Variations for Nathalie Syndrome

Expression for Nathalie Syndrome

Search GEO for disease gene expression data for Nathalie Syndrome.

Pathways for Nathalie Syndrome

GO Terms for Nathalie Syndrome

Sources for Nathalie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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