Stoornissen betreffende de werking en synthese van hormonen

Stoornissen van de schildklier : (Thyroid Disorders ):

1. thyroid-stimulating hormone receptor; TSHR  ( Hereditary Toxic Thyroid Hyperplasia  )
   
   OMIM: 603372
   
   
    
2. Familial gestational hyperthyroidism
   
   OMIM: 603373
   
    
3. Combined pituitary hormone deficiency (CPHD)
   
   OMIM: 601538
   
    
4. Graves disease
   
   OMIM: 275000
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Graves disease
   
   Who named it?:  Robert James Graves
   
    
5. Hashimoto thyroiditis
   
   OMIM: 140300
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Hakaru Hashimoto
   
   e-Medicine:  Hashimoto thyroiditis
    

Congenital Adrenal Hyperplasia, CAH:

1. Congenital Adrenal Hypoplasia;  X-linked  Addison Disease
   
   OMIM: 300200
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Thomas Addison
   
   Extra informatie: Addison en Cushing ( Nederlandse Vereniging voor Addison en Cushing Patiënten )
   
   
    
2. CAH  due to 21-Hydroxylase Deficiency
   
   OMIM: 201910
   
   OMIM: Clinical Synopsis
   
   GeneReviews: 21-hydroxylase deficiency (21-OHD)
   
   
    
3. CAH due to Deficiency of 11 beta Hydroxylase ( CY11B1 Deficiency )
   
   OMIM: 202010
   
   OMIM: Clinical Synopsis
   
   e-Medicine: 11 beta hydroxylase deficiency
   
   
    
4. CAH due to Deficiency of 17 alpha Hydroxylase ( CYP17 Deficiency)
   
   OMIM: 202110
   
   OMIM: Clinical Synopsis
   
   e-Medicine: 17 hydroxylase deficiency Syndrome
   
   
    
5. CAH due to Deficiency of 3 beta Hydroxysteroid Dehydrogenase
   
   OMIM: 201810
   
   e-Medicine: 3 beta hydroxysteroid dehydrogenase deficiency
   
   
    
6. Congenital Lipoid Adrenal Hyperplasia (CYP11A Deficiency)
   
   OMIM: 201710
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Congenital Adrenal Hyperplasia
   
   
    
7. 18-Hydroxilase Deficiency ( CMO I ) ( Corticosterone Methyloxidase I Deficiency )
   
   OMIM: 203400
   
   OMIM: Clinical Synopsis
   
   
    
8. 18-Oxidase Deficiency ( CMO II )    ( Corticosterone Methyloxidase II Deficiency )
   
   OMIM: 124080
   
   OMIM: Clinical Synopsis

Androgen Resistance Syndromes:

1. Steroid 5 alpha-Reductase 2 Deficiency  ( pseudovaginal perineoscrotal hypospadias  )
   
   OMIM: 264600
   
   OMIM: Clinical Synopsis
   
   e-medicine: 5 alpha reductase deficiency
   
   
    
2. Androgen insensitivity syndrome ( AIS )
   
   Synoniemen: Testicular Feminization Syndrome; TFM
   
   OMIM: 300068
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Androgen insensitivity syndrome
   
   GeneReviews: Androgen insensitivity syndrome
   
   
    
3. Partial androgen insensitivity  ( Reifenstein syndrome )
   
   OMIM: 312300
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Edward Conrad Reifenstein jun.
   
   
    
4. Invertile Male syndrome
   
   OMIM: 308370
   
   OMIM: Clinical Synopsis
   
   
    

Spinobulbar Muscular Atrophy:

1. Spinal-bulbar muscular atrophy; X-Linked  ( Kennedy disease )
   
   OMIM: 313200
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Kennedy disease

Inherited Defects in Growth Hormone Synthesis and Action:

1. Isolated autosomal recessive Growth Hormone Deficiency, Type IB
   
   OMIM: 262400
   
   OMIM: Clinical Synopsis
   
    
2. Isolated autosomal dominant Growth Hormone Deficiency
   
   OMIM: 173100
   
   OMIM: Clinical Synopsis
   
    
3. Isolated Growth Hormone Deficiency, type III
   
   Synoniemen: growth hormone deficiency with hypogammaglobulinemia
   
   OMIM: 307200
   
   OMIM: Clinical Synopsis
   
    
4. Biodefective Growth Hormone  ( Kowarski Syndrome )
   
   OMIM: 262650
   
   OMIM: Clinical Synopsis
   
    
5. Laron syndrome
   
   OMIM: 262500
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Zvi Laron
   
   e-Medicine: Laron Syndrome
   
    
6. Combined pituitary hormone deficiency
   
   OMIM: 262600
   
   OMIM: Clinical Synopsis
   
   GeneReviews: PROP1-related combined pituitary hormone deficiency (CPHD)
   
    
7. Panhypopituitarism, X-Linked
   
   OMIM: 312000
   
   OMIM: Clinical Synopsis
   
    
8. Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC Syndrome)
   
   OMIM: 129900
   
   OMIM: Clinical Synopsis
   
    
9. Fanconi anemia
   
   OMIM: 227650
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Guido Fanconi
   
   GeneReviews: Fanconi anemia
   
   e-Medicine: Fanconi anemia
   
    
10. Rieger syndrome
    
    OMIM: 601499
    
    OMIM: Clinical Synopsis
    
    Who named it?:  Herwigh Rieger
    
    e-Medicine:  Glaucoma, secondary congenital
    
     

Nephrogenic Diabetes Insipidus:

1. familial Nephrogenic Diabetes Insipidus
   
   OMIM: 304800
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Nephrogenic diabetes insipidus (NDI)
   
   e-Medicine: Diabetes Insipidus
   
    
2. Acquired Nephrogenic Insipidus
   
   OMIM: 125800
   
   OMIM: Clinical Synopsis

Pseudohypoparathyroidism:

1. Albright hereditary osteodystrophy (AHO)
   
   OMIM: 103580
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Fuller Albright
   
   e-Medicine: Pseudohypoparathyroidism
   
   
    
2. Pseudohypoparathyroidism  type II (PHP2)
   
   OMIM: 203330
   
   OMIM: Clinical Synopsis
   
    

Vitamin D and Other Calciferols:

1. Hereditary selective and simple deficiency of  1alpha,25(OH)₂D
   
   (  1alpha,25-dihydroxyvitamin D3;  1alpha, 25-(OH)2D3 )
   
   OMIM: 601769
   
   
    
2. Hereditary generalized resistance to 1alpha,25(OH)₂D
   
   OMIM: 277420
   
   OMIM: Clinical Synopsis
   
   
    
3. 25-@Hydroxyvitamin D3-1-Alpha-Hydroxylase
   
   OMIM: 264700
   
   OMIM: Clinical Synopsis
   
   
    
4. X-linked vitamin D-resistant rickets
   
   OMIM: 307800
   
   OMIM: Clinical Synopsis
   
    

Steroid Sulfatase Deficiency and X-Linked Ichthyosis:

1. Steroid Sulfatase Deficiency Disease  (SSDD);  X-linked ichthyosis
   
   OMIM: 308100
   
   OMIM: Clinical Synopsis
   
   e-Medicine: X-linked ichthyosis

 

Hoofdmenu