ORPHA:456312
Infantile multisystem neurologic-endocrine-pancreatic disease
Synonyms: IMNEPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare multisystemic syndrome characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile multisystem neurologic-endocrine-pancreatic disease | IMNEPD |
| fr | Maladie infantile multisystémique neurologique-endocrine-pancréatique | = en |
| de | Infantile multisystemische neurologisch-endokrine-pankreatische Krankheit | = en |
| es | Enfermedad infantil multisistémica neurológica-endocrina-pancreática | = en |
| it | Malattia infantile multisistemica neurologica-endocrina-pancreatica | = en |
| nl | Infantiele multisystemische neurologische-endocriene-pancreatische ziekte | = en |
| pt | Doença neurológica-endócrina-pancreática multissistémica da infância | = en |
| pl | Niemowlęca wielonarządowa choroba neurologiczno-endokrynologiczno-trzustkowa | = en |
| cs | Infantilní multisystémová neurologicko-endokrino-pankreatická choroba | = en |
| uk | Інфантильне мультисистемне неврологічно-ендокринно-панкреатичне захворювання | = en |
| zh | 婴儿多系统累及的神经-内分泌-胰腺疾病 | = en |
| tr | İnfantil multisistem nörolojik-endokrin-pankreas hastalığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616263 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 8000012 | E | validated | |
| UMLS | C5779989 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:101937Rare pancreatic disease
rare gastroenterological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTRH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24265 | ENSG00000141378 | 608625 | 17q23.1 | peptidyl-tRNA hydrolase 2 | 25574476[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25574476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25574476[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
48 annotations · validated 2020-06-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001251 | Ataxia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001270 | Motor delay | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000309 | Abnormal midface morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0000248 | Brachycephaly | |
| HP:0100307 | Cerebellar hemisphere hypoplasia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001310 | Dysmetria | |
| HP:0002353 | EEG abnormality | |
| HP:0000577 | Exotropia | |
| HP:0010628 | Facial palsy | |
| HP:0001508 | Failure to thrive | |
| HP:0100807 | Long fingers | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0005484 | Secondary microcephaly | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0001844 | Abnormal hallux morphology | |
| HP:0030146 | Abnormal liver parenchyma morphology | |
| HP:0100800 | Aplasia/Hypoplasia of the pancreas | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0001558 | Decreased fetal movement | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0003448 | Decreased sensory nerve conduction velocity | |
| HP:0000823 | Delayed puberty | |
| HP:0008366 | Foot joint contracture | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002240 | Hepatomegaly | |
| HP:0006276 | Hyperechogenic pancreas | |
| HP:0000316 | Hypertelorism | |
| HP:0000821 | Hypothyroidism | |
| HP:0012418 | Hypoxemia | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0000049 | Shawl scrotum | |
| HP:0030951 | Skeletal muscle fibrosis | |
| HP:0001772 | Talipes equinovalgus | |
| HP:0009464 | Ulnar deviation of the 2nd finger | |
| HP:0009463 | Ulnar deviation of the 3rd finger | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 27129381[PMID]_31057140[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/456312
- This record as JSON: /data/d/456312.json