IMNEPD
MCID: NRL023
MIFTS: 21

Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset (IMNEPD)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

MalaCards integrated aliases for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:

Name: Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 58 76 30 6 74
Imnepd 58 60 76
Multisystem Neurologic, Endocrine, and Pancreatic Disease, Infantile-Onset 41
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 58
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease 60

Characteristics:

Orphanet epidemiological data:

60
infantile multisystem neurologic-endocrine-pancreatic disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
some patients may become wheelchair-bound
pancreatic endocrine abnormalities reported in 1 family only
two unrelated consanguineous families have been reported (last curated march 2015)


HPO:

33
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

UniProtKB/Swiss-Prot : 76 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset: A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency.

MalaCards based summary : Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset, is also known as imnepd, and has symptoms including ataxia An important gene associated with Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset is PTRH2 (Peptidyl-TRNA Hydrolase 2). Related phenotypes are hypertelorism and hypothyroidism

Description from OMIM: 616263

Related Diseases for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Symptoms & Phenotypes for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Human phenotypes related to Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 hypothyroidism 33 HP:0000821
3 intellectual disability 33 HP:0001249
4 ataxia 33 HP:0001251
5 failure to thrive 33 HP:0001508
6 global developmental delay 33 HP:0001263
7 hepatomegaly 33 HP:0002240
8 sensorineural hearing impairment 33 HP:0000407
9 short stature 33 HP:0004322
10 brachycephaly 33 HP:0000248
11 hepatic fibrosis 33 HP:0001395
12 talipes equinovarus 33 HP:0001762
13 hip dislocation 33 HP:0002827
14 thin upper lip vermilion 33 HP:0000219
15 midface retrusion 33 HP:0011800
16 pancreatic fibrosis 33 HP:0100732
17 proximal placement of thumb 33 HP:0009623
18 cerebellar atrophy 33 HP:0001272
19 generalized hypotonia 33 HP:0001290
20 shawl scrotum 33 HP:0000049
21 distal muscle weakness 33 HP:0002460
22 steatorrhea 33 HP:0002570
23 exotropia 33 HP:0000577
24 progressive microcephaly 33 HP:0000253

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
exotropia

Growth Other:
failure to thrive
poor postnatal growth

Growth Height:
short stature

Skeletal Pelvis:
hip dislocation

Abdomen Pancreas:
pancreatic fibrosis
pancreatic exocrine insufficiency
pancreatic endocrine insufficiency (mild, in 1 patient)

Muscle Soft Tissue:
distal muscle weakness
hypotonia

Skeletal Feet:
clubfoot
foot deformities

Skeletal Hands:
proximally placed thumbs
finger deformities

Neurologic Peripheral Nervous System:
demyelinating sensorimotor peripheral neuropathy hyporeflexia endocrine : hypothyroidism

Neurologic Central Nervous System:
intellectual disability
ataxia
delayed psychomotor development
cerebellar atrophy, progressive
poor expressive speech

Abdomen Liver:
hepatomegaly
hepatic fibrosis

Head And Neck Head:
brachycephaly
microcephaly, postnatal, progressive

Head And Neck Mouth:
thin upper lip vermilion

Genitourinary External Genitalia Male:
shawl scrotum

Abdomen Gastrointestinal:
steatorrhea

Head And Neck Face:
midface hypoplasia

Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM:

616263

UMLS symptoms related to Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:


ataxia

Drugs & Therapeutics for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Search Clinical Trials , NIH Clinical Center for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset

Genetic Tests for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Genetic tests related to Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:

# Genetic test Affiliating Genes
1 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 30 PTRH2

Anatomical Context for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Publications for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Articles related to Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:

# Title Authors Year
1
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. ( 27129381 )
2016

Variations for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

UniProtKB/Swiss-Prot genetic disease variations for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:

76
# Symbol AA change Variation ID SNP ID
1 PTRH2 p.Gln85Pro VAR_073386 rs730882234

ClinVar genetic disease variations for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh38 Chromosome 17, 59697725: 59697725
2 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh37 Chromosome 17, 57775086: 57775086
3 PTRH2 NM_016077.4(PTRH2): c.269_270delCT (p.Ala90Glyfs) deletion Pathogenic rs786201017 GRCh37 Chromosome 17, 57775070: 57775071
4 PTRH2 NM_016077.4(PTRH2): c.269_270delCT (p.Ala90Glyfs) deletion Pathogenic rs786201017 GRCh38 Chromosome 17, 59697709: 59697710

Expression for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Search GEO for disease gene expression data for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset.

Pathways for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

GO Terms for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

Sources for Neurologic, Endocrine, and Pancreatic Disease, Multisystem,...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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