MEDNIK
MCID: MNT317
MIFTS: 43

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma (MEDNIK)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin 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 58 76 30 6
Mednik Syndrome 58 12 77 60 38 30 13 15
Erythrokeratodermia Variabilis 3 58 12 76 74
Erythrokeratodermia Variabilis, Kamouraska Type 58 12
Mednik 58 76
Ekv3 58 76
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome 60
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma ) 41
Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia 12
Erythrokeratodermia Variabilis Kamouraska Type 76
Erythrokeratodermia Variabilis 3; Ekv3 58

Characteristics:

Orphanet epidemiological data:

60
mednik syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 76 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 Lysosome and Vesicle-mediated transport. Affiliated tissues include skin, and related phenotypes are intellectual disability and ichthyosis

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 : 58 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 : 77 MEDNIK syndrome (OMIM#609313), also known as "syndrome de Kamouraska" (syndrome from Kamouraska), is a... 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 31)
# Related Disease Score Top Affiliating Genes
1 metal metabolism disorder 10.1 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 9.9 GJB2 GJB4
7 deafness, autosomal recessive 93 9.9 GJB2 GJB3
8 deafness, autosomal recessive 28 9.9 GJB2 GJB3
9 hodgkin's lymphoma, nodular sclerosis 9.9 GJB2 GJB3
10 vestibular disease 9.8 GJB2 GJB3
11 deafness, autosomal recessive 67 9.8 GJB2 GJB3
12 drug-induced hearing loss 9.8 GJB2 GJB3
13 mutism 9.8 GJB2 MITF
14 wilson disease 9.8 ATP7A ATP7B
15 palmoplantar keratosis 9.8 GJB2 GJB3
16 waardenburg syndrome, type 2a 9.8 GJB2 MITF
17 albinism, oculocutaneous, type iv 9.8 GJB2 MITF
18 deafness, autosomal dominant 6 9.7 GJB2 MITF
19 inner ear disease 9.7 GJB2 GJB3
20 auditory system disease 9.7 GJB2 GJB3
21 hypotrichosis-deafness syndrome 9.7 GJB2 GJB3 GJB4
22 kid syndrome 9.7 GJB2 GJB3 GJB4
23 pseudoainhum 9.7 GJB2 GJB3 GJB4
24 deafness, autosomal recessive 1a 9.7 GJB2 GJB3 GJB4
25 knuckle pads 9.7 GJB2 GJB3 GJB4
26 erythrokeratodermia variabilis et progressiva 1 9.7 GJB2 GJB3 GJB4
27 clouston syndrome 9.6 GJB2 GJB3 GJB4
28 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 GJB3
29 skin disease 9.6 GJB2 GJB3 GJB4
30 sensorineural hearing loss 9.5 GJB2 GJB3 MITF
31 nonsyndromic deafness 9.3 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,...

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

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
3 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
4 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
5 abnormal intestine morphology 33 hallmark (90%) HP:0002242
6 intrahepatic cholestasis 60 33 frequent (33%) Frequent (79-30%) HP:0001406
7 decreased serum ceruloplasmin 60 33 frequent (33%) Frequent (79-30%) HP:0010837
8 decreased circulating copper concentration 33 frequent (33%) HP:0011967
9 cataract 33 occasional (7.5%) HP:0000518
10 hearing impairment 33 HP:0000365
11 global developmental delay 33 HP:0001263
12 growth delay 33 HP:0001510
13 hepatic fibrosis 33 HP:0001395
14 cirrhosis 33 HP:0001394
15 upslanted palpebral fissure 33 HP:0000582
16 cholestasis 33 HP:0001396
17 diarrhea 33 HP:0002014
18 erythema 33 HP:0010783
19 high forehead 33 HP:0000348
20 generalized hypotonia 33 HP:0001290
21 abnormality of the intestine 60 Very frequent (99-80%)
22 hypocupremia 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

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


diarrhea

MGI Mouse Phenotypes related to Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ATP7A ATP7B GJB2 GJB3 MITF

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 30 AP1S1
2 Mednik Syndrome 30

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

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

42
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
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. ( 30244301 )
2018
2
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. ( 24754424 )
2014
3
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 NM_001283.4(AP1S1): c.183-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 7, 101157375: 101157375
2 AP1S1 NM_001283.4(AP1S1): c.183-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100800656: 100800656

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 KEGG:

38
# Name Kegg Source Accession
1 Lysosome hsa04142

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
11.92 GJB2 GJB3 GJB4
3 11.23 ATP7A ATP7B
4 11.05 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 response to copper ion GO:0046688 9.37 ATP7A ATP7B
7 copper ion transport GO:0006825 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 gap junction channel activity GO:0005243 9.32 GJB2 GJB3
3 cation-transporting ATPase activity GO:0019829 9.26 ATP7A ATP7B
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 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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