MEDNIK
MCID: MNT317
MIFTS: 42

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 57 74 29 6
Mednik Syndrome 57 12 75 59 37 29 13 15
Erythrokeratodermia Variabilis 3 57 12 74 72
Erythrokeratodermia Variabilis, Kamouraska Type 57 12
Mednik 57 74
Ekv3 57 74
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 74
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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060483
OMIM 57 609313
KEGG 37 H02220
UMLS via Orphanet 73 C1836330
Orphanet 59 ORPHA171851
MedGen 42 C1836330
UMLS 72 C1836330

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

KEGG : 37
MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene mutations, encoding the subunit of the AP-1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane.

MalaCards based summary : Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma, also known as mednik syndrome, is related to ichthyosis and branchiootic syndrome 1, 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, liver and spinal cord, 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 : 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)

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 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 40)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 10.4
2 branchiootic syndrome 1 10.3
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 cholestasis 10.1
6 peripheral nervous system disease 10.1
7 neuropathy 10.1
8 disorder of copper metabolism 10.1
9 hair disease 10.1 ATP7B ATP7A
10 metal metabolism disorder 9.9 CP ATP7B ATP7A
11 menkes disease 9.9 CP ATP7B ATP7A
12 wilson disease 9.9 CP ATP7B ATP7A
13 hermansky-pudlak syndrome 3 9.9 MITF CP
14 deafness, autosomal dominant 3a 9.9 GJB4 GJB2
15 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB4 GJB2
16 oculodentodigital dysplasia 9.9 GJB4 GJB2
17 deafness, autosomal recessive 93 9.9 GJB3 GJB2
18 deafness, autosomal recessive 28 9.8 GJB3 GJB2
19 hodgkin's lymphoma, nodular sclerosis 9.8 GJB3 GJB2
20 vestibular disease 9.8 GJB3 GJB2
21 deafness, autosomal recessive 67 9.8 GJB3 GJB2
22 drug-induced hearing loss 9.8 GJB3 GJB2
23 mutism 9.7 MITF GJB2
24 palmoplantar keratosis 9.6 GJB3 GJB2
25 waardenburg syndrome, type 2a 9.6 MITF GJB2
26 albinism, oculocutaneous, type iv 9.5 MITF GJB2
27 inner ear disease 9.5 GJB3 GJB2
28 hypotrichosis-deafness syndrome 9.5 GJB4 GJB3 GJB2
29 kid syndrome 9.5 GJB4 GJB3 GJB2
30 pseudoainhum 9.5 GJB4 GJB3 GJB2
31 deafness, autosomal dominant 6 9.5 MITF GJB2
32 deafness, autosomal recessive 1a 9.5 GJB4 GJB3 GJB2
33 knuckle pads 9.5 GJB4 GJB3 GJB2
34 erythrokeratodermia variabilis et progressiva 1 9.5 GJB4 GJB3 GJB2
35 clouston syndrome 9.5 GJB4 GJB3 GJB2
36 auditory system disease 9.4 GJB3 GJB2
37 skin disease 9.4 GJB4 GJB3 GJB2
38 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 GJB3 GJB2
39 sensorineural hearing loss 9.2 MITF GJB3 GJB2
40 nonsyndromic deafness 9.0 MITF GJC3 GJB3 GJB2

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:

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
ichthyosis
erythema

Abdomen Liver:
cirrhosis
hepatic fibrosis
cholestasis

Head And Neck Head:
high forehead

Muscle Soft Tissue:
hypotonia

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

Growth Other:
growth retardation

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed psychomotor development

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.5 ATP7A ATP7B CP F11R GJB2 GJB3
2 pigmentation MP:0001186 8.92 ATP7A ATP7B CP 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 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, Liver, Spinal Cord

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

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

(show all 14)
# Title Authors PMID Year
1
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. 38 8 71
19057675 2008
2
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. 8
15668823 2005
3
Atypical erythrokeratoderma with deafness, physical retardation and peripheral neuropathy. 8
4342731 1972
4
Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity. 38
30965071 2019
5
Classification and differential diagnosis of Wilson's disease. 38
31179300 2019
6
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. 38
30244301 2018
7
Neuro-ichthyotic Syndromes: A Case Series. 38
29899769 2018
8
Copper Regulates Maturation and Expression of an MITF:Tryptase Axis in Mast Cells. 38
29127151 2017
9
Adaptor Protein-1 Complex Affects the Endocytic Trafficking and Function of Peptidylglycine α-Amidating Monooxygenase, a Luminal Cuproenzyme. 38
26170456 2015
10
Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1. 38
25378584 2015
11
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. 38
24754424 2014
12
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. 38
23423674 2013
13
Inborn errors of copper metabolism. 38
23622398 2013
14
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. 38
21931015 2012

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 GRCh37 Pos GRCh38 Pos
1 AP1S1 NM_001283.5(AP1S1): c.183-2A> G single nucleotide variant Pathogenic 7:100800656-100800656 7:101157375-101157375

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:

37
# 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 VAMP4 GJB4 GJB3 GJB2 AP1S1
2
Show member pathways
11.99 GJB4 GJB3 GJB2
3 10.99 ATP7B ATP7A
4
Show member pathways
10.79 GJB4 GJB3 GJB2
5 10.42 ATP7B ATP7A

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 cell junction GO:0030054 9.65 GJC3 GJB4 GJB3 GJB2 F11R
2 trans-Golgi network membrane GO:0032588 9.33 VAMP4 ATP7B AP1S1
3 gap junction GO:0005921 9.26 GJC3 GJB4 GJB3 GJB2
4 connexin complex GO:0005922 8.92 GJC3 GJB4 GJB3 GJB2

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 ATP7B ATP7A
2 skin development GO:0043588 9.48 GJB3 ATP7A
3 pigmentation GO:0043473 9.46 MITF ATP7A
4 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.43 ATP7B ATP7A
5 metal ion transport GO:0030001 9.4 ATP7B ATP7A
6 response to copper ion GO:0046688 9.37 ATP7B ATP7A
7 cellular copper ion homeostasis GO:0006878 9.32 ATP7B ATP7A
8 copper ion import GO:0015677 9.26 ATP7B ATP7A
9 copper ion export GO:0060003 9.16 ATP7B ATP7A
10 copper ion transport GO:0006825 9.13 CP ATP7B ATP7A
11 cell communication GO:0007154 8.92 GJC3 GJB4 GJB3 GJB2

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 gap junction channel activity GO:0005243 9.37 GJB3 GJB2
2 copper ion binding GO:0005507 9.33 CP ATP7B ATP7A
3 cation-transporting ATPase activity GO:0019829 9.32 ATP7B ATP7A
4 copper ion transmembrane transporter activity GO:0005375 9.26 ATP7B ATP7A
5 copper-transporting ATPase activity GO:0043682 8.96 ATP7B ATP7A
6 copper-exporting ATPase activity GO:0004008 8.62 ATP7B ATP7A

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
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44 MeSH
45 MESH via Orphanet
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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