Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MEDS
Number of Symptoms 25
OrphanetNr: 306558
OMIM Id: 614231
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Cerebral malformation with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other rare diabetes mellitus
 -Rare endocrine disease
Rare genetic diabetes mellitus
 -Rare genetic disease
Syndrome with microcephaly as major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0001488) Bilateral ptosis 42 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0002521) Hypsarrhythmia 43 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0000819) Diabetes mellitus 131 / 7739
12
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0001252) Muscular hypotonia 990 / 7739
17
 (OMIM) Developmental delay, severe 13 / 7739
18
 (OMIM) Diabetes mellitus, infantile 1 / 7739
19
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
20
 (OMIM) Simplified gyral pattern 11 / 7739
21
 (OMIM) Apoptosis of neurons 1 / 7739
22
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739
23
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
24
 (OMIM) Few and small islets of Langerhans 1 / 7739
25
 (HPO:0012448) Delayed myelination 51 / 7739

Associated genes:

IER3IP1

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MEDS is an autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011).
Clinical Description OMIM De Wit et al. (2006) and Poulton et al. (2011) reported a male infant, born of consanguineous Moroccan parents, with a syndromic form of microcephaly. His head circumference was 2.5 SD below the mean at birth, and progressed to ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing in 2 consanguineous families with MEDS, Poulton et al. (2011) identified different homozygous mutations in the IER3IP1 gene (609382.0001 and 609382.0002). Poulton et al. (2011) concluded that the disorder was due ...