Pseudopseudohypoparathyroidism

Description

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudopseudohypoparathyroidism

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Nystagmus
  • Pain
  • Cataract
  • Cognitive impairment
  • Depressed nasal bridge
  • Brachydactyly

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pseudopseudohypoparathyroidism Is also known as aho-pphp syndrome, albright hereditary osteodystrophy without multiple hormone resistance, albright hereditary osteodystrophy-pphp syndrome.

Researches and researchers

Doctors, researchs, and experts related to Pseudopseudohypoparathyroidism extracted from public data.

Pseudopseudohypoparathyroidism Experts map



Current Researchs and researchers

  • HUÉRCAL-OVERA — Dr Guiomar PEREZ DE NANCLARES LEAL

    Responsible for diagnostic tests - Investigator of research project - Contact person of patient organisation - Director of laboratory

    • Institution/s:
      — Unidad de Investigación, HUA - Hospital Universitario Araba. Sede Txagorritxu
      — Asociación Española de PHP
    • Research area/topic::

      Pseudohypoparathyroidism and pseudopseudohypoparathyroidism: classification and clinic and genetic characterization


  • VITORIA-GASTEIZ — Dr Guiomar PEREZ DE NANCLARES LEAL

    Responsible for diagnostic tests - Investigator of research project - Contact person of patient organisation - Director of laboratory

    • Institution/s:
      — Unidad de Investigación, HUA - Hospital Universitario Araba. Sede Txagorritxu
      — Asociación Española de PHP
    • Research area/topic::

      Pseudohypoparathyroidism and pseudopseudohypoparathyroidism: classification and clinic and genetic characterization



Mendelian

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Pseudopseudohypoparathyroidism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pseudohypoparathyroidism Type 1B.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

GNAS
Specificity
100 %
Genes
100 %
Pseudohypoparathyroidism Type 1A.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

GNAS
Specificity
100 %
Genes
100 %
Albright Hereditary Osteodystrophy (GNAS).

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

GNAS
Specificity
100 %
Genes
100 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STX16, TBCE, TBX1, CASR, CHD7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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