Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Leprechaunism

Donohue syndrome (Leprechaunism) is an autosomal recessive disorder caused by a loss-of-function mutations in the insulin receptor gene. The clinical picture includes intra-uterine and postnatal growth restriction, lipo-atrophy, characteristic facial features, acanthosis nigricans, abnormal glucose homeostasis and severe insulin resistance.

Symptoms

Acanthosis nigricans
Insulin resistance in leprechaunism is accompanied by acanthosis nigricans.

Systematic

Neonatal diabetes mellitus
Leprechaunism
INSR
Mitchell-Riley syndrome
Neonatal diabetes mellitus with congenital hypothyroidism
Pancreatogenic diabetes
Permanent neonatal diabetes mellitus
Rabson-Mendenhall syndrome
Renal cysts and diabetes (RCAD)
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

1.

Salonen R et al. (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects.

external link
2.

Gulati R et al. (1997) Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

external link
3.

Paavola P et al. (1997) Clinical and genetic heterogeneity in Meckel syndrome.

external link
4.

Al-Gazali LI et al. (1996) Meckel syndrome and Dandy Walker malformation.

external link
5.

Genuardi M et al. (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

external link
6.

None (1993) On Saraiva and Baraitser and Joubert syndrome: a review.

external link
7.

Wright C et al. (1994) Meckel syndrome: what are the minimum diagnostic criteria?

external link
8.

Nelson J et al. (1994) Polydactyly in a carrier of the gene for the Meckel syndrome.

external link
9.

Summers MC et al. (1995) Dandy-Walker malformation in the Meckel syndrome.

external link
10.

Plauchu H et al. (1981) [Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

external link
11.

None (1981) Phenotypic variation in Meckel syndrome.

external link
12.

Fraser FC et al. (1981) Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

external link
13.

Verjaal M et al. (1980) Oligohydramnios hampering prenatal diagnosis of Meckel syndrome.

external link
14.

Fryns JP et al. (1980) Prenatal diagnosis of Meckel syndrome.

external link
15.

Majewski F et al. (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

external link
16.

Sakaguchi H et al. (2013) Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

external link
17.

Lurie IW et al. (1984) Meckel syndrome in different populations.

external link
18.

None (1984) Gross anatomical studies of a newborn infant with the Meckel syndrome.

external link
19.

None (1984) Johann Friedrich Meckel the Younger (1781-1833).

external link
20.

Simopoulos AP et al. (1967) Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.

external link
21.

Tucker CC et al. (1966) Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

external link
22.

Walbaum R et al. (1967) [Familial polydactyly with neuro-cranial dysplasia].

external link
23.

Hsia YE et al. (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica).

external link
24.

Mecke S et al. (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

external link
25.

None (1970) Johann Friedrich Meckel, the Younger (1781-1833).

external link
26.

Naffah J et al. (1972) [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

external link
27.

Fitch N et al. (1973) The Meckel syndrome with limited expression in relatives.

external link
28.

Young ID et al. (1985) High incidence of Meckel's syndrome in Gujarati Indians.

external link
29.

Rapola J et al. (1985) Visceral anomalies in the Meckel syndrome.

external link
30.

Orphanet article

Orphanet ID 280282 external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues