MCID: MNT253
MIFTS: 21

Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation with Spastic Paraplegia and Palmoplantar...

MalaCards integrated aliases for Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis:

Name: Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 56 52
Fitzsimmons-Mclachlan-Gilbert Syndrome 58 71
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome 58
Fitzsimmons Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
paraplegia-intellectual disability-hyperkeratosis syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
two families described (last curated july 2013)


HPO:

31
mental retardation with spastic paraplegia and palmoplantar hyperkeratosis:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 309560
ICD10 via Orphanet 33 G82.1
UMLS via Orphanet 72 C2745996
Orphanet 58 ORPHA2824
MedGen 41 C2745996
UMLS 71 C2745996

Summaries for Mental Retardation with Spastic Paraplegia and Palmoplantar...

MalaCards based summary : Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis, also known as fitzsimmons-mclachlan-gilbert syndrome, is related to fitzsimmons-guilbert syndrome and brachydactyly, and has symptoms including tremor of hands Related phenotypes are intellectual disability and palmoplantar keratoderma

More information from OMIM: 309560

Related Diseases for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Diseases related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 fitzsimmons-guilbert syndrome 11.2
2 brachydactyly 10.3
3 paraplegia 10.3
4 spastic ataxia, charlevoix-saguenay type 10.3
5 mental retardation, autosomal dominant 41 10.3
6 spasticity 10.3
7 trichorhinophalangeal syndrome, type i 10.1
8 ataxia and polyneuropathy, adult-onset 10.1
9 spastic ataxia 10.1
10 trichorhinophalangeal syndrome 10.1
11 autosomal recessive spastic ataxia 10.1

Graphical network of the top 20 diseases related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis:



Diseases related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis

Symptoms & Phenotypes for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Human phenotypes related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
4 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
5 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
6 malar prominence 58 31 hallmark (90%) Very frequent (99-80%) HP:0010620
7 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
10 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
11 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
12 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
13 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
14 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
15 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
16 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
17 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
18 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
19 intellectual disability, mild 31 HP:0001256
20 spasticity 58 Very frequent (99-80%)
21 tremor 31 HP:0001337
22 hyperreflexia 58 Frequent (79-30%)
23 high palate 31 HP:0000218
24 abnormality of the fingernails 58 Very frequent (99-80%)
25 pes cavus 31 HP:0001761
26 lower limb spasticity 58 Very frequent (99-80%)
27 palmoplantar hyperkeratosis 31 HP:0000972

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability, mild
spastic paraplegia
brisk reflexes
hypertonia (in lower limbs)
tremors (in hands)

Skeletal Feet:
pes cavus

Head And Neck Mouth:
high palate

Skin Nails Hair Skin:
palmoplantar hyperkeratosis

Clinical features from OMIM:

309560

UMLS symptoms related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis:


tremor of hands

Drugs & Therapeutics for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Search Clinical Trials , NIH Clinical Center for Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis

Genetic Tests for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Anatomical Context for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Publications for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Articles related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis:

# Title Authors PMID Year
1
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance. 56
23613454 2013
2
Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis. A new syndrome? 56
6221837 1983
3
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 61
27133561 2016
4
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. 61
19760657 2009
5
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. 61
8014978 1994

Variations for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Expression for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Search GEO for disease gene expression data for Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis.

Pathways for Mental Retardation with Spastic Paraplegia and Palmoplantar...

GO Terms for Mental Retardation with Spastic Paraplegia and Palmoplantar...

Sources for Mental Retardation with Spastic Paraplegia and Palmoplantar...

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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