Leprechaunism

Description

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

Clinical Features

Top most frequent phenotypes and symptoms related to Leprechaunism

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Cognitive impairment

And another 68 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

Leprechaunism Is also known as donohue syndrome, leprechaunism.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Leprechaunism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-onset Diabetes of the Young Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

BLK, HNF1A, HNF1B, KLF11, CEL, AKT2, GCK, HNF4A, ABCC8, INS, INSR, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
7 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

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

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

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

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
INSR deletion/duplication analysis.

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

INSR
Specificity
100 %
Genes
100 %
INSR sequencing.

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

INSR
Specificity
100 %
Genes
100 %
Comprehensive Familial Hyperinsulinism Panel.

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

SLC16A1, HNF1A, UCP2, KDM6A, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11, KMT2D, PGM1, PMM2
Specificity
8 %
Genes
100 %
Inherited Insulin Resistance Syndromes (INSR) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

INSR
Specificity
100 %
Genes
100 %
INSR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

INSR
Specificity
100 %
Genes
100 %

We have 49 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 1; THC1 PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH MYOPATHY, MYOFIBRILLAR, 5; MFM5 BLAU SYNDROME; BLAUS

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