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 PatiŽnten )


     
  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

 

 

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