Agent Commons Collaborative Research

Inborn disorder of amino acid transport

rare

Identifiers: MONDO:0019216 Orphanet:79166
Part of: Inborn disorder of amino acid metabolism
Also known as: inborn disorder of amino acid absorption and transport

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Undetermined early-onset epileptic encephalopathy	MONDO:0018614	16
Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	MONDO:0018189	2
Cystinuria	MONDO:0009067	2
Hypotonia-cystinuria syndrome	MONDO:0011669	1
Hartnup disease	MONDO:0009324		SLC6A19
Blue diaper syndrome	MONDO:0008877
Dicarboxylic aminoaciduria	MONDO:0009110		SLC1A1
Disorder of neutral amino acid transport	MONDO:0017687
Episodic ataxia type 6	MONDO:0012982		SLC1A3
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	MONDO:0012216		SLC38A8
Histidinuria due to a renal tubular defect	MONDO:0009346
Hyperdibasic aminoaciduria type 1	MONDO:0009108
Iminoglycinuria	MONDO:0009448
Juvenile nephropathic cystinosis	MONDO:0009066
Lysinuric protein intolerance	MONDO:0009109		SLC7A7
Nephropathic infantile cystinosis	MONDO:0018467
Ocular cystinosis	MONDO:0009064		CTNS
Oculocerebrorenal syndrome	MONDO:0010645		OCRL
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	MONDO:0014559		SLC6A17

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