MCID: GMG001
MIFTS: 16

Gemignani Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gemignani Syndrome

MalaCards integrated aliases for Gemignani Syndrome:

Name: Gemignani Syndrome 52 58 71
Spinocerebellar Ataxia Associated Amyotrophy of the Hands and Sensorineural Deafness 52
Spinocerebellar Ataxia-Amyotrophy-Deafness Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
gemignani syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

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


External Ids:

MESH via Orphanet 44 C537678
UMLS via Orphanet 72 C2931587
Orphanet 58 ORPHA2074
UMLS 71 C2931587

Summaries for Gemignani 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: 2074 Definition Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia , amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss , hypogonadism and short stature . Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Visit the Orphanet disease page for more resources.

MalaCards based summary : Gemignani Syndrome, is also known as spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness, and has symptoms including paraparesis, spastic Affiliated tissues include spinal cord, testis and skeletal muscle, and related phenotypes are ataxia and hyperreflexia

Related Diseases for Gemignani Syndrome

Symptoms & Phenotypes for Gemignani Syndrome

Human phenotypes related to Gemignani Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
7 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
8 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
9 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
10 abnormal testis morphology 31 hallmark (90%) HP:0000035
11 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
12 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
13 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
14 abnormality of the testis 58 Very frequent (99-80%)

UMLS symptoms related to Gemignani Syndrome:


paraparesis, spastic

Drugs & Therapeutics for Gemignani Syndrome

Search Clinical Trials , NIH Clinical Center for Gemignani Syndrome

Genetic Tests for Gemignani Syndrome

Anatomical Context for Gemignani Syndrome

MalaCards organs/tissues related to Gemignani Syndrome:

40
Spinal Cord, Testis, Skeletal Muscle, Skin

Publications for Gemignani Syndrome

Variations for Gemignani Syndrome

Expression for Gemignani Syndrome

Search GEO for disease gene expression data for Gemignani Syndrome.

Pathways for Gemignani Syndrome

GO Terms for Gemignani Syndrome

Sources for Gemignani 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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