PEPNS
MCID: PLY115
MIFTS: 24

Polyendocrine-Polyneuropathy Syndrome (PEPNS)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Polyendocrine-Polyneuropathy Syndrome

MalaCards integrated aliases for Polyendocrine-Polyneuropathy Syndrome:

Name: Polyendocrine-Polyneuropathy Syndrome 57 58 72 29 6 39 70
Pepns 57 72

Characteristics:

Orphanet epidemiological data:

58
polyendocrine-polyneuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous senegalese family has been reported (last curated december 2014)


HPO:

31
polyendocrine-polyneuropathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Polyendocrine-Polyneuropathy Syndrome

UniProtKB/Swiss-Prot : 72 Polyendocrine-polyneuropathy syndrome: A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs.

MalaCards based summary : Polyendocrine-Polyneuropathy Syndrome, is also known as pepns, and has symptoms including ataxia An important gene associated with Polyendocrine-Polyneuropathy Syndrome is DMXL2 (Dmx Like 2). Affiliated tissues include pituitary and thyroid, and related phenotypes are abnormal pyramidal sign and ataxia

More information from OMIM: 616113

Related Diseases for Polyendocrine-Polyneuropathy Syndrome

Symptoms & Phenotypes for Polyendocrine-Polyneuropathy Syndrome

Human phenotypes related to Polyendocrine-Polyneuropathy Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
2 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
5 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
6 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
7 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
8 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
9 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
10 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
11 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
12 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
13 progressive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0001730
14 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
15 decreased serum testosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0040171
16 decreased circulating follicle stimulating hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0030341
17 decreased circulating luteinizing hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0030344
18 emg: slow motor conduction 58 31 frequent (33%) Frequent (79-30%) HP:0100287
19 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
20 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
21 anterior pituitary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010627
22 central hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0011787
23 hypoinsulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0040216
24 short stature 31 HP:0004322
25 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
26 motor delay 31 HP:0001270
27 hypogonadism 31 HP:0000135
28 polyneuropathy 31 HP:0001271

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
ataxia
dysarthria
dystonia
mental retardation, moderate
pyramidal syndrome
more
Growth Other:
postnatal growth retardation

Endocrine Features:
central hypothyroidism
hypogonadotropic hypogonadism
low testosterone levels
low luteinizing hormone levels
low follicle-stimulating hormone levels
more
Head And Neck Nose:
normal sense of smell

Head And Neck Head:
partial frontal alopecia

Growth Height:
short stature

Neurologic Peripheral Nervous System:
motor delay
peripheral demyelinating polyneuropathy

Head And Neck Ears:
progressive hearing loss

Genitourinary External Genitalia Male:
small testicular volume

Skin Nails Hair Hair:
partial frontal alopecia

Clinical features from OMIM®:

616113 (Updated 05-Apr-2021)

UMLS symptoms related to Polyendocrine-Polyneuropathy Syndrome:


ataxia

Drugs & Therapeutics for Polyendocrine-Polyneuropathy Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Percutaneous Electrical Phrenic Nerve Stimulation (PEPNS) System Feasibility Study Completed NCT03559933

Search NIH Clinical Center for Polyendocrine-Polyneuropathy Syndrome

Genetic Tests for Polyendocrine-Polyneuropathy Syndrome

Genetic tests related to Polyendocrine-Polyneuropathy Syndrome:

# Genetic test Affiliating Genes
1 Polyendocrine-Polyneuropathy Syndrome 29 DMXL2

Anatomical Context for Polyendocrine-Polyneuropathy Syndrome

MalaCards organs/tissues related to Polyendocrine-Polyneuropathy Syndrome:

40
Pituitary, Thyroid

Publications for Polyendocrine-Polyneuropathy Syndrome

Articles related to Polyendocrine-Polyneuropathy Syndrome:

# Title Authors PMID Year
1
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. 6 57
25248098 2014
2
Comparative analysis of homologous aminopeptidase PepN from pathogenic and non-pathogenic mycobacteria reveals divergent traits. 61
30969995 2019

Variations for Polyendocrine-Polyneuropathy Syndrome

ClinVar genetic disease variations for Polyendocrine-Polyneuropathy Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMXL2 NM_015263.4(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) Deletion Pathogenic 161414 rs606231461 GRCh37: 15:51773462-51773476
GRCh38: 15:51481265-51481279
2 DMXL2 NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln) SNV Uncertain significance 1030274 GRCh37: 15:51780776-51780776
GRCh38: 15:51488579-51488579
3 DMXL2 NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr) SNV Uncertain significance 1033359 GRCh37: 15:51742499-51742499
GRCh38: 15:51450302-51450302

Expression for Polyendocrine-Polyneuropathy Syndrome

Search GEO for disease gene expression data for Polyendocrine-Polyneuropathy Syndrome.

Pathways for Polyendocrine-Polyneuropathy Syndrome

GO Terms for Polyendocrine-Polyneuropathy Syndrome

Sources for Polyendocrine-Polyneuropathy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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