MCID: PLY115
MIFTS: 18

Polyendocrine-Polyneuropathy Syndrome

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

Aliases & Classifications for Polyendocrine-Polyneuropathy Syndrome

MalaCards integrated aliases for Polyendocrine-Polyneuropathy Syndrome:

Name: Polyendocrine-Polyneuropathy Syndrome 57 59 75 29 6 40 73
Pepns 57 75

Characteristics:

Orphanet epidemiological data:

59
polyendocrine-polyneuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
polyendocrine-polyneuropathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polyendocrine-Polyneuropathy Syndrome

UniProtKB/Swiss-Prot : 75 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 ataxia and dysarthria

Description from OMIM: 616113

Related Diseases for Polyendocrine-Polyneuropathy Syndrome

Symptoms & Phenotypes for Polyendocrine-Polyneuropathy Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
dystonia
pyramidal syndrome
mental retardation, moderate
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

Skin Nails Hair Hair:
partial frontal alopecia

Growth Height:
short stature

Neurologic Peripheral Nervous System:
motor delay
peripheral demyelinating polyneuropathy

Head And Neck Ears:
progressive hearing loss

Head And Neck Head:
partial frontal alopecia

Genitourinary External Genitalia Male:
small testicular volume


Clinical features from OMIM:

616113

Human phenotypes related to Polyendocrine-Polyneuropathy Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 dysarthria 32 HP:0001260
3 motor delay 32 HP:0001270
4 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
5 dystonia 32 HP:0001332
6 progressive hearing impairment 32 HP:0001730
7 intellectual disability, moderate 32 HP:0002342
8 short stature 32 HP:0004322
9 postnatal growth retardation 32 HP:0008897
10 central hypothyroidism 32 HP:0011787

UMLS symptoms related to Polyendocrine-Polyneuropathy Syndrome:


ataxia

Drugs & Therapeutics for Polyendocrine-Polyneuropathy Syndrome

Search Clinical Trials , 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:

41
Pituitary, Thyroid

Publications for Polyendocrine-Polyneuropathy Syndrome

Variations for Polyendocrine-Polyneuropathy Syndrome

ClinVar genetic disease variations for Polyendocrine-Polyneuropathy Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DMXL2 NM_015263.3(DMXL2): c.5827_5841delGATGGCAATGGAAGT (p.Asp1943_Ser1947del) deletion Pathogenic rs606231461 GRCh37 Chromosome 15, 51773462: 51773476
2 DMXL2 NM_015263.3(DMXL2): c.5827_5841delGATGGCAATGGAAGT (p.Asp1943_Ser1947del) deletion Pathogenic rs606231461 GRCh38 Chromosome 15, 51481265: 51481279

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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