MEDNIK syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MEDNIK
EKV3
Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia
erythrokeratodermia variabilis 3
erythrokeratodermia variabilis, kamouraska type
Number of Symptoms 23
OrphanetNr: 171851
OMIM Id: 609313
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with prominent neurologics signs
 -Rare genetic disease
 -Rare skin disease
Disorder of copper metabolism
 -Rare genetic disease
Erythrokeratoderma
 -Rare skin disease
Genetic erythrokeratoderma
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000348) High forehead 157 / 7739
2
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
3
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
4
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
5
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
6
 (HPO:0009830) Peripheral neuropathy 206 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0001394) Cirrhosis 102 / 7739
10
 (HPO:0001395) Hepatic fibrosis 67 / 7739
11
 (HPO:0002242) Abnormality of the intestine 42 / 7739
12
 (HPO:0001396) Cholestasis 136 / 7739
13
 (HPO:0002014) Diarrhea 225 / 7739
14
 (HPO:0001510) Growth delay 295 / 7739
15
 (HPO:0010783) Erythema 138 / 7739
16
 (HPO:0008064) Ichthyosis 108 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0001324) Muscle weakness 859 / 7739
19
 (HPO:0010547) Muscle flaccidity 466 / 7739
20
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
 (OMIM) Increased very-long chain fatty acids 1 / 7739
22
 (HPO:0003577) Congenital onset 133 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Erythrokeratodermia variabilis (EKV; 133200) is a congenital disorder of the skin that causes hyperkeratosis and red patches of variable sizes, shapes, and duration. In 5 children from 3 families originating from the Kamouraska region of the province of ...
Molecular genetics OMIM In affected members from 4 families with MEDNIK, Montpetit et al. (2008) identified the same homozygous splice site mutation in the AP1S1 gene (603531.0001). The mutation was identified by linkage analysis followed by candidate gene sequencing. The mutation ...
Population genetics OMIM All 3 families with MEDNIK reported by Saba et al. (2005) were likely to share common ancestors, as they lived in a relatively isolated population descended from founders of French origin who settled south of the St. Lawrence ...