MCID: MNT317
MIFTS: 42

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

MalaCards integrated aliases for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

Name: Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 57 75 29 6
Mednik Syndrome 57 12 76 59 29 13 15
Erythrokeratodermia Variabilis 3 57 12 75 73
Erythrokeratodermia Variabilis, Kamouraska Type 57 12
Mednik 57 75
Ekv3 57 75
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome 59
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma ) 40
Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia 12
Erythrokeratodermia Variabilis Kamouraska Type 75
Erythrokeratodermia Variabilis 3; Ekv3 57

Characteristics:

Orphanet epidemiological data:

59
mednik syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
may result in early death from severe diarrhea
prevalent in quebec


HPO:

32
mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

UniProtKB/Swiss-Prot : 75 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.

MalaCards based summary : Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma, also known as mednik syndrome, is related to metal metabolism disorder and menkes disease, and has symptoms including diarrhea An important gene associated with Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma is AP1S1 (Adaptor Related Protein Complex 1 Subunit Sigma 1), and among its related pathways/superpathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, and related phenotypes are hyperkeratosis and intellectual disability

Disease Ontology : 12 A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.

OMIM : 57 MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It shows phenotypic similarities to CEDNIK (609528) (summary by Montpetit et al., 2008). (609313)

Wikipedia : 76 MEDNIK syndrome (OMIM#609313) is a genetic disorder that is caused by mutations to the AP1S1 gene.... more...

Related Diseases for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Diseases related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 metal metabolism disorder 10.2 ATP7A ATP7B
2 menkes disease 10.1 ATP7A ATP7B
3 hair disease 10.0 ATP7A ATP7B
4 deafness, autosomal dominant 3a 9.9 GJB2 GJB4
5 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB2 GJB4
6 oculodentodigital dysplasia 9.8 GJB2 GJB4
7 deafness, autosomal recessive 93 9.7 GJB2 GJB3
8 deafness, autosomal recessive 28 9.7 GJB2 GJB3
9 hodgkin's lymphoma, nodular sclerosis 9.7 GJB2 GJB3
10 vestibular disease 9.6 GJB2 GJB3
11 deafness, autosomal recessive 67 9.6 GJB2 GJB3
12 wilson disease 9.6 ATP7A ATP7B
13 mutism 9.6 GJB2 MITF
14 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 GJB2 GJB3
15 palmoplantar keratosis 9.6 GJB2 GJB3
16 inner ear disease 9.5 GJB2 GJB3
17 auditory system disease 9.4 GJB2 GJB3
18 hypotrichosis-deafness syndrome 9.3 GJB2 GJB3 GJB4
19 kid syndrome 9.3 GJB2 GJB3 GJB4
20 pseudoainhum 9.3 GJB2 GJB3 GJB4
21 deafness, autosomal recessive 1a 9.3 GJB2 GJB3 GJB4
22 knuckle pads 9.3 GJB2 GJB3 GJB4
23 erythrokeratodermia variabilis et progressiva 1 9.3 GJB2 GJB3 GJB4
24 clouston syndrome 9.3 GJB2 GJB3 GJB4
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 GJB2 GJB3
26 skin disease 9.2 GJB2 GJB3 GJB4
27 sensorineural hearing loss 9.0 GJB2 GJB3 MITF
28 nonsyndromic deafness 8.6 GJB2 GJB3 GJC3 MITF

Graphical network of the top 20 diseases related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:



Diseases related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Symptoms & Phenotypes for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
ichthyosis
erythema

Abdomen Liver:
hepatic fibrosis
cirrhosis
cholestasis

Head And Neck Head:
high forehead

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed psychomotor development

Head And Neck Eyes:
upslanting palpebral fissures
cataracts (uncommon)

Laboratory Abnormalities:
increased very-long chain fatty acids

Neurologic Peripheral Nervous System:
peripheral neuropathy

Abdomen Gastrointestinal:
diarrhea
enteropathy

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation

Head And Neck Ears:
deafness, sensorineural, congenital


Clinical features from OMIM:

609313

Human phenotypes related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
4 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
5 intrahepatic cholestasis 59 32 frequent (33%) Frequent (79-30%) HP:0001406
6 decreased serum ceruloplasmin 59 32 frequent (33%) Frequent (79-30%) HP:0010837
7 hypocupremia 59 32 frequent (33%) Frequent (79-30%) HP:0011967
8 abnormality of the intestine 59 Very frequent (99-80%)
9 high forehead 32 HP:0000348
10 hearing impairment 32 HP:0000365
11 cataract 32 occasional (7.5%) HP:0000518
12 upslanted palpebral fissure 32 HP:0000582
13 global developmental delay 32 HP:0001263
14 generalized hypotonia 32 HP:0001290
15 cirrhosis 32 HP:0001394
16 hepatic fibrosis 32 HP:0001395
17 cholestasis 32 HP:0001396
18 growth delay 32 HP:0001510
19 diarrhea 32 HP:0002014
20 abnormal intestine morphology 32 hallmark (90%) HP:0002242
21 erythema 32 HP:0010783

UMLS symptoms related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:


diarrhea

Drugs & Therapeutics for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Genetic Tests for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Genetic tests related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

# Genetic test Affiliating Genes
1 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 29 AP1S1
2 Mednik Syndrome 29

Anatomical Context for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

MalaCards organs/tissues related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

41
Skin

Publications for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Articles related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

# Title Authors Year
1
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. ( 24754424 )
2014
2
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. ( 23423674 )
2013

Variations for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

ClinVar genetic disease variations for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AP1S1 AP1S1, IVS2AS, A-G, -2 single nucleotide variant Pathogenic

Expression for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Search GEO for disease gene expression data for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma.

Pathways for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Pathways related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 AP1S1 GJB2 GJB3 GJB4 VAMP4
2
Show member pathways
11.99 GJB2 GJB3 GJB4
3 11.23 ATP7A ATP7B
4 10.99 ATP7A ATP7B
5
Show member pathways
10.79 GJB2 GJB3 GJB4
6 10.42 ATP7A ATP7B

GO Terms for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

Cellular components related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.92 ATP7A ATP7B F11R GJB2 GJB3 GJB4
2 cell junction GO:0030054 9.65 F11R GJB2 GJB3 GJB4 GJC3
3 trans-Golgi network membrane GO:0032588 9.33 AP1S1 ATP7B VAMP4
4 gap junction GO:0005921 9.26 GJB2 GJB3 GJB4 GJC3
5 connexin complex GO:0005922 8.92 GJB2 GJB3 GJB4 GJC3
6 membrane GO:0016020 10.02 AP1S1 ATP7A ATP7B F11R GJB2 GJB3

Biological processes related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.49 ATP7A ATP7B
2 skin development GO:0043588 9.48 ATP7A GJB3
3 pigmentation GO:0043473 9.46 ATP7A MITF
4 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.43 ATP7A ATP7B
5 metal ion transport GO:0030001 9.4 ATP7A ATP7B
6 copper ion transport GO:0006825 9.37 ATP7A ATP7B
7 response to copper ion GO:0046688 9.32 ATP7A ATP7B
8 cellular copper ion homeostasis GO:0006878 9.26 ATP7A ATP7B
9 copper ion import GO:0015677 9.16 ATP7A ATP7B
10 copper ion export GO:0060003 8.96 ATP7A ATP7B
11 cell communication GO:0007154 8.92 GJB2 GJB3 GJB4 GJC3

Molecular functions related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.37 ATP7A ATP7B
2 cation-transporting ATPase activity GO:0019829 9.32 ATP7A ATP7B
3 gap junction channel activity GO:0005243 9.26 GJB2 GJB3
4 copper ion transmembrane transporter activity GO:0005375 9.16 ATP7A ATP7B
5 copper-exporting ATPase activity GO:0004008 8.96 ATP7A ATP7B
6 copper-transporting ATPase activity GO:0043682 8.62 ATP7A ATP7B

Sources for Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy,...

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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