MCID: GMG001
MIFTS: 17

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 54 60 74
Spinocerebellar Ataxia Associated Amyotrophy of the Hands and Sensorineural Deafness 54
Spinocerebellar Ataxia-Amyotrophy-Deafness Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
gemignani syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

MESH via Orphanet 46 C537678
UMLS via Orphanet 75 C2931587
Orphanet 60 ORPHA2074
UMLS 74 C2931587

Summaries for Gemignani Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2074Disease definitionGemignani 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, skin 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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
6 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
7 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
8 hemiplegia/hemiparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004374
9 impaired pain sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007328
10 abnormal testis morphology 33 hallmark (90%) HP:0000035
11 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
12 hypopigmented skin patches 60 33 frequent (33%) Frequent (79-30%) HP:0001053
13 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
14 abnormality of the testis 60 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:

42
Spinal Cord, Skin, Skeletal Muscle, Testis

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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