Mitochondrial dna depletion syndrome 6 (hepatocerebral type)

Preferred Label : Mitochondrial dna depletion syndrome 6 (hepatocerebral type);

Symbol : MTDPS6;

CISMeF acronym : MTDPS6; NN; NNH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Navajo neurohepatopathy; Navajo neuropathy; NNH; NN;

Included titles and symbols : Navajo familial neurogenic arthropathy;

Description : Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial inner membrane protein MPV17 gene (MPV17, 137960.0001);

Laboratory abnormalities : Elevated liver enzymes; Increased total and conjugated bilirubin;

Prefixed ID : #256810;

Détails

Origin ID

256810;

UMLS CUI

C1850406;

Automatic exact mappings (from CISMeF team)
- NTS wt Allele [NCIt concept]
- Nanoliter (qualifier value) [SNOMED CT concept]
- Neuromedin N [NCIt concept]
- navajo familial neurogenic arthropathy [MeSH concept]
Broader ORDO disease(s)
- Mitochondrial DNA depletion syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Navajo neurohepatopathy [ORDO Disease]
- Navajo neurohepatopathy [MeSH concept]
- Navajo neurohepatopathy [ICD-11 More detail]
- Navajo neurohepatopathy (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 6 [DO Concept]
- navajo neurohepatopathy [MeSH Supplementary Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 6 [DO Concept]
False automatic mappings
- Netherlands Antilles [NCIt concept]
Genes related to phenotype
- Mitochondrial inner membrane protein mpv17 [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Acral ulceration [HPO term]
- Acute hepatic failure [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autoamputation of digits [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Diarrhea [HPO term]
- Distal muscle weakness [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypoglycemia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Macrovesicular hepatic steatosis [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Neonatal jaundice [HPO term]
- Nystagmus [HPO term]
- Osteomyelitis leading to amputation due to slow healing fractures [HPO term]
- Pain insensitivity [HPO term]
- Painless fractures due to injury [HPO term]
- Poor weight gain [HPO term]
- Progressive [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Recurrent corneal erosions [HPO term]
- Reye syndrome-like episodes [HPO term]
- Sensorimotor neuropathy [HPO term]
- Short stature [HPO term]
- Vomiting [HPO term]
- distal ulceration and osteomyelitis leading to autoamputation [HPO term]
ORDO concept(s)
- Navajo neurohepatopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Navajo neurohepatopathy [MeSH concept]
- Navajo neurohepatopathy [ORDO Disease]
- Navajo neurohepatopathy [ICD-11 More detail]
- Navajo neurohepatopathy (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 6 [DO Concept]
- navajo neurohepatopathy [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients