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SLC Transporter Disorders
Instance of the biological pathway in Homo sapiens with Reactome ID (R-HSA-5619102).
Statements about
SLC Transporter Disorders
Instance Of
Biological Pathway
Part Of
Disorders of Transmembrane Transporters
Has Part(s)
71 items
Defective AVP Does Not Bind AVPR1A,B and Causes Neurohypophyseal Diabetes Insipidus (NDI)
Defective HK1 Causes Hexokinase Deficiency (HK Deficiency)
Defective CP Causes Aceruloplasminemia (ACERULOP)
Defective GCK Causes Maturity-Onset Diabetes of the Young 2 (MODY2)
Defective RHAG Causes Regulator Type Rh-Null Hemolytic Anemia (RHN)
Defective SLC11A2 Causes Hypochromic Microcytic Anemia, with Iron Overload 1 (AHMIO1)
Defective SLC12A3 Causes Gitelman Syndrome (GS)
Defective SLC12A1 Causes Bartter Syndrome 1 (BS1)
Defective SLC12A6 Causes Agenesis of the Corpus Callosum, with Peripheral Neuropathy (ACCPN)
Defective SLC17A5 Causes Salla Disease (SD) and ISSD
Defective SLC16A1 Causes Symptomatic Deficiency in Lactate Transport (SDLT)
Defective SLC17A8 Causes Autosomal Dominant Deafness 25 (DFNA25)
Defective SLC1A1 Is Implicated in Schizophrenia 18 (SCZD18) and Dicarboxylic Aminoaciduria (DCBXA)
Defective SLC1A3 Causes Episodic Ataxia 6 (EA6)
Defective SLC22A12 Causes Renal Hypouricemia 1 (RHUC1)
Defective SLC20A2 Causes Idiopathic Basal Ganglia Calcification 1 (IBGC1)
Defective SLC22A18 Causes Lung Cancer (LNCR) and Embryonal Rhabdomyosarcoma 1 (RMSE1)
Defective SLC22A5 Causes Systemic Primary Carnitine Deficiency (CDSP)
Defective SLC24A1 Causes Congenital Stationary Night Blindness 1D (CSNB1D)
Defective SLC24A4 Causes Hypomineralized Amelogenesis Imperfecta (AI)
Defective SLC26A2 Causes Chondrodysplasias
Defective SLC24A5 Causes Oculocutaneous Albinism 6 (OCA6)
Defective SLC26A3 Causes Congenital Secretory Chloride Diarrhea 1 (DIAR1)
Defective SLC26A4 Causes Pendred Syndrome (PDS)
Defective SLC27A4 Causes Ichthyosis Prematurity Syndrome (IPS)
Defective SLC34A1 Causes Hypophosphatemic Nephrolithiasis/Osteoporosis 1 (NPHLOP1)
Defective SLC2A1 Causes GLUT1 Deficiency Syndrome 1 (GLUT1DS1)
Defective SLC2A9 Causes Hypouricemia Renal 2 (RHUC2)
Defective SLC33A1 Causes Spastic Paraplegia 42 (SPG42)
Defective SLC29A3 Causes Histiocytosis-Lymphadenopathy Plus Syndrome (HLAS)
Defective SLC2A10 Causes Arterial Tortuosity Syndrome (ATS)
Defective SLC2A2 Causes Fanconi-Bickel Syndrome (FBS)
Defective SLC35A1 Causes Congenital Disorder of Glycosylation 2F (CDG2F)
Defective SLC34A2 Causes Pulmonary Alveolar Microlithiasis (PALM)
Defective SLC34A3 Causes Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH)
Defective SLC36A2 Causes Iminoglycinuria (IG) and Hyperglycinuria (HG)
Defective SLC35A2 Causes Congenital Disorder of Glycosylation 2M (CDG2M)
Defective SLC35C1 Causes Congenital Disorder of Glycosylation 2C (CDG2C)
Defective SLC35A3 Causes Arthrogryposis, Mental Retardation, and Seizures (AMRS)
Defective SLC39A4 Causes Acrodermatitis Enteropathica, Zinc-Deficiency Type (AEZ)
Defective SLC3A1 Causes Cystinuria (CSNU)
Defective SLC40A1 Causes Hemochromatosis 4 (HFE4) (Macrophages)
Defective SLC40A1 Causes Hemochromatosis 4 (HFE4) (Duodenum)
Defective SLC4A1 Causes Hereditary Spherocytosis Type 4 (HSP4), Distal Renal Tubular Acidosis (dRTA) and dRTA with Hemolytic Anemia (dRTA-HA)
Defective SLC4A4 Causes Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation (pRTA-OA)
Defective SLC5A5 Causes Thyroid Dyshormonogenesis 1 (TDH1)
Defective SLC5A7 Causes Distal Hereditary Motor Neuronopathy 7A (HMN7A)
Defective SLC5A1 Causes Congenital Glucose/Galactose Malabsorption (GGM)
Defective SLC5A2 Causes Renal Glucosuria (GLYS1)
Defective SLC6A18 May Confer Susceptibility to Iminoglycinuria And/Or Hyperglycinuria
Variant SLC6A14 May Confer Susceptibility Towards Obesity
Defective SLC6A19 Causes Hartnup Disorder (HND)
Defective SLC6A3 Causes Parkinsonism-Dystonia Infantile (PKDYS)
Defective SLC6A5 Causes Hyperekplexia 3 (HKPX3)
Variant SLC6A20 Contributes Towards Hyperglycinuria (HG) and Iminoglycinuria (IG)
Defective SLC6A2 Causes Orthostatic Intolerance (OI)
Defective SLC7A7 Causes Lysinuric Protein Intolerance (LPI)
Defective SLC9A6 Causes X-Linked, Syndromic Mental Retardation,, Christianson Type (MRXSCH)
Defective SLC7A9 Causes Cystinuria (CSNU)
Defective SLC9A9 Causes Autism 16 (AUTS16)
Defective SLCO1B1 Causes Hyperbilirubinemia, Rotor Type (HBLRR)
Defective SLCO1B3 Causes Hyperbilirubinemia, Rotor Type (HBLRR)
Defective SLCO2A1 Causes Primary, Autosomal Recessive Hypertrophic Osteoarthropathy 2 (PHOAR2)
Defective TPR May Confer Susceptibility Towards Thyroid Papillary Carcinoma (TPC)
Defective AVP Does Not Bind AVPR2 and Causes Neurohypophyseal Diabetes Insipidus (NDI)
Defective SLC35A1 Causes Congenital Disorder of Glycosylation 2F (CDG2F)
Defective SLC5A7 Causes Distal Hereditary Motor Neuronopathy 7A (HMN7A)
Defective SLC6A18 May Confer Susceptibility to Iminoglycinuria And/Or Hyperglycinuria
Defective SLC6A19 Causes Hartnup Disorder (HND)
Variant SLC6A20 Contributes Towards Hyperglycinuria (HG) and Iminoglycinuria (IG)
Defective SLC6A3 Causes Parkinsonism-Dystonia Infantile (PKDYS)
Exact Match
https://identifiers.org/reactome:R-H ...
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