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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessGlucocorticoid deficiency, familial; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for familial Glucocorticoid-deficiency comprising 15 guideline-curated and altogether 20 curated genes according to the clinical signs

ID
GP0170
Number of genes
16 Accredited laboratory test
Examined sequence length
23,1 kb (Core-/Core-canditate-Genes)
27,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AAAS1641NM_015665.6AR
AIRE1638NM_000383.4AR
CDKN1C951NM_000076.2AD
CYP11A11566NM_000781.3AD
MC2R894NM_000529.2AR
MCM42592NM_005914.4AR
MRAP519NM_178817.4AR
NNT3261NM_012343.4AR
NR0B11413NM_000475.5XL
NR5A11386NM_004959.5AD, AR
SAMD94770NM_001193307.2AD
STAR858NM_000349.3AR
TXNRD21575NM_006440.5AR
POMC804NM_001035256.3AR
SGPL11721NM_003901.4AR
TBX191347NM_005149.3AR

Informations about the disease

Clinical Comment

Primary adrenal insufficiencies with neonatal hyperpigmentation, hypoglycemia, failure to thrive, recurrent infections; biochemically glucocorticoid deficiency without mineralocorticoid deficiency

Functional NR3C1 deficiency (Glucocorticoid receptor) present with similar symptoms.

 

Synonyms
  • Alias: Congenital adrenal hypoplasia; Familial glucocorticoid deficiency
  • Allelic: 46XX sex reversal 4 (NR5A1)
  • Allelic: 46XY sex reversal (NR5A1)
  • Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
  • Allelic: Albinism, oculocutaneous, type II, modifier of (MC1R)
  • Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
  • Allelic: Melanoma, cutaneous malignant, 5 (MC1R)
  • Allelic: Obesity, early-onset, susceptibility to (POMC)
  • Allelic: Premature ovarian failure 7 (NR5A1)
  • Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
  • Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
  • Allelic: Spermatogenic failure 8 (NR5A1)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: UV-induced skin damage (MC1R)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Adrenal hypoplasia, congenital (NR0B1)
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
  • Adrenocortical insufficiency (NR5A1)
  • Adrenocorticotropic hormone deficiency (TBX19)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Aldosterone to renin ratio raised (CYP11B1)
  • Allelic: Low renin hypertension, susceptibility to (CYP11B1)
  • Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
  • FILS - Facial dysmorphism, Immunodeficiency, Livedo, Short stature - syndrome (POLE)
  • Glucocorticoid deficiency 2 (MRAP)
  • Glucocorticoid deficiency 4, with/-out mineralocorticoid deficiency (NNT)
  • Glucocorticoid deficiency 5 (TXNRD2)
  • Glucocorticoid deficiency, due to ACTH unresponsiveness (MC2R)
  • Hypoaldosteronism, congenital, due to CMO I deficiency (CYP11B1)
  • Hypoaldosteronism, congenital, due to CMO II deficiency (CYP11B1)
  • IMAGE syndrome (CDKN1C)
  • IMAGE-I syndrome (POLE)
  • Immunodeficiency 54 (MCM4)
  • Lipoid adrenal hyperplasia (STAR)
  • MIRAGE syndrome (SAMD9)
  • Nephrotic syndrome, type 14 (SGPL1)
  • Obesity, adrenal insufficiency, red hair due to POMC deficiency (POMC)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined