MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mitochondrial oxidative phosphorylation disorder with no known mechanism (MONDO:0016799)
Parent Node: syndromic neurometabolic disease with non-X-linked intellectual disability (MONDO:0015919)
..Starting node ..Zellweger-like syndrome without peroxisomal anomalies ()
Child Nodes:
Sister Nodes:
..3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia ()
..adenylosuccinate lyase deficiency ()
..AICA-ribosiduria ()
..combined oxidative phosphorylation defect type 27 () L: 00519;
..guanidinoacetate methyltransferase deficiency ()
..leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome () L: 00418;
..non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature ()
..PGM3-CDG ()
..sialidosis type 2 ()
..SLC39A8-CDG ()
..Smith-Lemli-Opitz syndrome ()
..Zellweger-like syndrome without peroxisomal anomalies ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18861
Name:	Zellweger-like syndrome without peroxisomal anomalies
Definition:	Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	AHN-Lerman-Sagie syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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