DEND syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PDMI DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES, INCLUDED
DEND, INCLUDED
DIABETES MELLITUS, PERMANENT, OF INFANCY
PNDM
Developmental delay - epilepsy - neonatal diabetes
Number of Symptoms 36
OrphanetNr: 79134
OMIM Id: 606176
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: Autosomal recessive
Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Epileptic syndrome
 -Rare genetic disease
 -Rare neurologic disease
Neonatal diabetes mellitus
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0005487) Prominent metopic ridge 28 / 7739
2
(HPO:0003196) Short nose 264 / 7739
3
(HPO:0002714) Downturned corners of mouth 98 / 7739
4
(HPO:0000463) Anteverted nares 305 / 7739
5
(HPO:0000343) Long philtrum 262 / 7739
6
(HPO:0001488) Bilateral ptosis 42 / 7739
7
(HPO:0000508) Ptosis 459 / 7739
8
(HPO:0000598) Abnormality of the ear 98 / 7739
9
(HPO:0002521) Hypsarrhythmia 43 / 7739
10
(HPO:0001270) Motor delay 322 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0009830) Peripheral neuropathy 206 / 7739
13
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0007178) Motor polyneuropathy 31 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0000819) Diabetes mellitus 131 / 7739
18
(HPO:0003121) Limb joint contracture 8 / 7739
19
(HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
20
(HPO:0009466) Radial deviation of finger 101 / 7739
21
(HPO:0006279) Beta-cell dysfunction 5 / 7739
22
(HPO:0001511) Intrauterine growth retardation 358 / 7739
23
(HPO:0001518) Small for gestational age 107 / 7739
24
(HPO:0003074) Hyperglycemia 37 / 7739
25
(HPO:0001993) Ketoacidosis 17 / 7739
26
(HPO:0002715) Abnormality of the immune system 46 / 7739
27
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
28
(HPO:0001252) Muscular hypotonia 990 / 7739
29
(HPO:0001324) Muscle weakness 859 / 7739
30
(OMIM) Diabetic peripheral neuropathy in long-standing cases 2 / 7739
31
(MedDRA:10058668) Clinodactyly 91 / 7739
32
(OMIM) Thick ears 3 / 7739
33
(OMIM) EEG shows epileptiform activity 2 / 7739
34
(OMIM) Postnatal growth catch-up occurs in treated patients without neurologic abnormalities 2 / 7739
35
(OMIM) Absence of pancreatic autoantibodies 2 / 7739
36
(OMIM) Diffuse hypotonia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is ...
Clinical Description OMIM Permanent diabetes of infancy is primarily characterized by onset of hyperglycemia within the first 6 months of life. Among 12 patients with PNDI, Gloyn et al. (2004) reported a mean age of 7 weeks at diagnosis (range birth ...
Molecular genetics OMIM - Mutation in GCK

Njolstad et al. (2001) described 2 patients in whom complete deficiency of glucokinase caused permanent neonatal-onset diabetes mellitus. Both patients showed total absence of basal insulin release, and both had homozygous missense ...