Membraan Transport Ziekten

Familial Glucose-Galactose Malabsorption and Hereditary Renal Glycosuria:

1. Glucose-Galactose Malabsorption
   
   OMIM: 182380
   
   
   
    
2. Renal Glucosuria
   
   OMIM: 233100
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Renal Glucosuria

Cystinuria:

1. Cystinuria type I   ( CSNU )
   
   OMIM: 220100
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Cystinuria
   
   
    
2. Cystinuria type II  ( CSNU2 )
   
   OMIM: 600918
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Cystinuria
   
    
3. Cystinuria type III   ( CSNU3 )
   
   OMIM: 600918
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Cystinuria
   
    

Lysinuric Protein Intolerance :

1. Lysinuric protein intolerance  ( LPI )
   
   OMIM: 222700
   
   OMIM: Clinical Synopsis
   
   
    

Hartnup disease:

1. Hartnup disorder
   
   OMIM: 234500
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Hartnup disease

Iminoglycinuria:

1. familial (renal) iminoglycinuria
   
   OMIM: 242600
   
   OMIM: Clinical Synopsis

Renal Tubular Acidosis:

1. Autosomal dominant distal renal tubular acidosis  ( RTA Classic Type )
   
   OMIM: 179800
   
   OMIM: Clinical Synopsis
   
    
2. Autosomal recessive proximal renal tubular acidosis
   
   OMIM: 604278
   
   OMIM: Clinical Synopsis
   
    
3. Renal tubular acidosis  III
   
   OMIM: 267200
   
   OMIM: Clinical Synopsis
   
    
4. Renal tubular acidosis, familial proximal
   
   OMIM: 179830
   
   OMIM: Clinical Synopsis

The Renal Fanconi Syndrome:

1. The renal Fanconi syndrome
   
   OMIM: 134600
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Guido Fanconi

Mendelian Hypophosphatemias:

1. Hypophosphatemia; X-Linked
   
   OMIM: 307800
   
   OMIM: Clinical Synopsis
   
   
    
2. Hypophosphatemia; hereditary, type II
   
   OMIM: 307810
   
   OMIM: Clinical Synopsis
   
   
    
3. Autosomal dominant  hypophosphatemic rickets
   
   OMIM: 193100
   
   OMIM: Clinical Synopsis
   
   
    
4. Hypophosphatemic bone disease
   
   OMIM: 146350
   
   OMIM: Clinical Synopsis
   
   
    
5. Hereditary hypophosphatemic rickets with hypercalciuria ( HHRH )
   
   OMIM: 241530
   
   OMIM: Clinical Synopsis
   
   
    
6. Hypophosphatemic rickets; autosomal recessive
   
   OMIM: 241520
   
   OMIM: Clinical Synopsis
    

Cystinosis: A Disorder of Lysosomal Membrane Transport:

1. Nephropathic cystinosis; CTNS
   
   OMIM: 219800
   
   OMIM: Clinical Synopsis
   
    
2. Cystinosis, late-onset juvenile or adolescent nephropathic type
   
   OMIM: 219900
   
   OMIM: Clinical Synopsis
    

Disorders of Free Sialic Acid Storage:

1. Salla disease
   
   OMIM: 604369
   
   OMIM: Clinical Synopsis
   
   
    
2. infantile Sialic Acid Storage Disease  ( ISSD )
   
   OMIM: 269920
   
   OMIM: Clinical Synopsis
    

Cystic Fibrosis:

1. Cystic Fibrosis
   
   OMIM: 219700
   
   OMIM: Clinical Synopsis

Defects in Sulfate Metabolism and Skeletal Dysplasias:

1. Achondrogenesis type IB
   
   OMIM: 600972
   
   OMIM: Clinical Synopsis
   
   
    
2. Achondrogenesis type II
   
   OMIM: 200610
   
   OMIM: Clinical Synopsis
   
   
    
3. Diastrophic dysplasia
   
   OMIM: 222600
   
   OMIM: Clinical Synopsis
   
   
    
4. Autosomal recessive multiple epiphyseal dysplasia
   
   OMIM: 226900
   
   OMIM: Clinical Synopsis

 

Hoofdmenu