1187527003: Peroxisome biogenesis disorder due to PEX13 mutation (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\PEX13 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\PEX13 deficiency

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\PEX13 deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\PEX13 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4674083010 PEX13 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4674539011 Peroxisome biogenesis disorder due to PEX13 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674540013 Peroxisome biogenesis disorder due to PEX13 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6447301000241118 trouble de la biogenèse du péroxysome due à une mutation du gène PEX13 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6447311000241116 anomalie de la biogenèse du péroxysome due à une mutation du gène PEX13 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PEX13 deficiency	Is a	A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.	true	Inferred relationship	Some
PEX13 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

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