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Summary
NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY (IPEX)
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
304790
OMIM = Online Medalian Inheritance of Men
37042
Xp11.23
rare
X-linked recessive
mutation in the FOXP3 gene
symptoms
anemia
diarrhea
early death
enteropathy, protein-loosing
eosinophilia
hyperglycemia
ileus
infections (respiratory tract/system)
infections (severe or recurrent)
neutropenia (decreased neutrophils)
onset, infancy
onset, neonatal
skin rash, eczematous or seborrhoic
thrombopenia, thrombocytopenia
laboratory finding
Thrombocytes, Platelets /-Álblood
Immunglobulin IgE increasedserum
Literature
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Farooqi IS,ORahilly S20 years of leptin: human disorders of leptin actionJ Endocrinol2231T63-702014
Hayashizaki Y,et al.Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunitEMBO J882291-22961989
Clement K,et al.A mutation in the human leptin receptor gene causes obesity and pituitary dysfunctionNature3926674398-4011998
Fowler MLet al.Correction of mucolipidosis II in vitro by gene transferGenomics182236-2431993
Zammarchi Eet al.Self mutilation in patient with mucolipidosis IIIPediatr Neurol11168-701994
Dubern B,Clement KLeptin and leptin receptor-related monogenic obesityBiochimie94102111-21152012
Owada MI-cell disease and pseudo-Hurler polydystrophyNippon Rinsho53123028-30341995
Farooqi IS,ORahilly S20 years of leptin: human disorders of leptin actionJ Endocrinol2231T63-702014
Brik Ret al.Mucolipidosis III presenting as a rheumatological disorderJ Rheumatol201133-1361993