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





  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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