Acth Deficiency, Isolated; Iad

Description

Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (OMIM ). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (OMIM ), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001).

Clinical Features

Top most frequent phenotypes and symptoms related to Acth Deficiency, Isolated; Iad

  • Pica
  • Fatigue
  • Hypoglycemia
  • Renal hypoplasia
  • Hypotension
  • Hepatitis
  • Hyponatremia
  • Adrenal insufficiency
  • Prolonged neonatal jaundice
  • Primary adrenal insufficiency
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Acth Deficiency, Isolated; Iad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACTH Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

TBX19
Specificity
100 %
Genes
100 %
Adrenocorticotropic hormone deficiency.

By Centogene AG - the Rare Disease Company in Germany.

TBX19
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
TBX19.

By Fulgent Genetics Fulgent Genetics in United States.

TBX19
Specificity
100 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
TBX19 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TBX19
Specificity
100 %
Genes
100 %

Alternate names

Acth Deficiency, Isolated; Iad Is also known as adrenocorticotropic hormone deficiency;.



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