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Hyperinsulinism due to INSR deficiency

Further information on this disease (ORPHANET)

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All Entries 3

9.03899619780523 48.5307926 Zentrum für Seltene Hormonelle Erkrankungen (ZSHE) am Universitätsklinikum Tübingen

Zentrum für Seltene Hormonelle Erkrankungen (ZSHE) am Universitätsklinikum Tübingen

Universitätsklinikum Tübingen Behandlungs- und Forschungszentrum für Seltene Erkrankungen (ZSE) Tübingen

Hoppe-Seyler-Str. 1
72076 Tübingen

07071 2983795
07071 294157
Website
Email

07071 2983670
07071 292784
Website
Email

Ambulanzsprechstunde für Kinder und Jugendliche
Privat-Sprechstunde für Erwachsene
Ambulanzsprechstunde für Erwachsene

Turner syndrome
Multiple endocrine neoplasia
Noonan syndrome
Silver-Russell syndrome
Prader-Willi syndrome
46,XX ovarian dysgenesis-short stature syndrome
Idiopathic congenital hypothyroidism
Adrenogenital syndrome
Pituitary adenoma
Septo-optic dysplasia spectrum
Acromegaly

9.992634057998659 48.41087277657953 Zentrum für Seltene Endokrine Erkrankungen (hormonelle Erkrankungen) am Universitätsklinikum Ulm

Zentrum für Seltene Endokrine Erkrankungen (hormonelle Erkrankungen) am Universitätsklinikum Ulm

Zentrum für Seltene Erkrankungen Universitätsmedizin Ulm Universitätsklinikum Ulm

Eythstraße 24
89075 Ulm

0731 50057401
0731 50057407
Website
Email

Congenital hypogonadotropic hypogonadism
Primary lipodystrophy
Central diabetes insipidus
Pseudohypoparathyroidism type 1A
Acquired lipodystrophy
Multiple endocrine neoplasia
Prolactinoma
Addison disease
Congenital isolated hyperinsulinism
Craniopharyngioma
Genetic obesity
Acromegaly
Rare diabetes mellitus

13.4602344 52.5174429 Kongenitaler Hyperinsulinismus e.V.

Kongenitaler Hyperinsulinismus e.V.

Rigaer Straße 87

10247 Berlin

0176 92448289
Website
Email

Diazoxide-resistant diffuse hyperinsulinism
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Diazoxide-resistant hyperinsulinism
Diazoxide-sensitive diffuse hyperinsulinism
Hyperinsulinism due to UCP2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Congenital hyperinsulinism due to HNF4A deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Hyperinsulinism due to INSR deficiency
Congenital isolated hyperinsulinism
Hyperinsulinism-hyperammonemia syndrome
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Parent facilities 0

Genetic Advices 0

Care facilities 2

9.03899619780523 48.5307926 Zentrum für Seltene Hormonelle Erkrankungen (ZSHE) am Universitätsklinikum Tübingen

Zentrum für Seltene Hormonelle Erkrankungen (ZSHE) am Universitätsklinikum Tübingen

Universitätsklinikum Tübingen Behandlungs- und Forschungszentrum für Seltene Erkrankungen (ZSE) Tübingen

Hoppe-Seyler-Str. 1
72076 Tübingen

07071 2983795
07071 294157
Website
Email

07071 2983670
07071 292784
Website
Email

Ambulanzsprechstunde für Kinder und Jugendliche
Privat-Sprechstunde für Erwachsene
Ambulanzsprechstunde für Erwachsene

Turner syndrome
Multiple endocrine neoplasia
Noonan syndrome
Silver-Russell syndrome
Prader-Willi syndrome
46,XX ovarian dysgenesis-short stature syndrome
Idiopathic congenital hypothyroidism
Adrenogenital syndrome
Pituitary adenoma
Septo-optic dysplasia spectrum
Acromegaly

9.992634057998659 48.41087277657953 Zentrum für Seltene Endokrine Erkrankungen (hormonelle Erkrankungen) am Universitätsklinikum Ulm

Zentrum für Seltene Endokrine Erkrankungen (hormonelle Erkrankungen) am Universitätsklinikum Ulm

Zentrum für Seltene Erkrankungen Universitätsmedizin Ulm Universitätsklinikum Ulm

Eythstraße 24
89075 Ulm

0731 50057401
0731 50057407
Website
Email

Congenital hypogonadotropic hypogonadism
Primary lipodystrophy
Central diabetes insipidus
Pseudohypoparathyroidism type 1A
Acquired lipodystrophy
Multiple endocrine neoplasia
Prolactinoma
Addison disease
Congenital isolated hyperinsulinism
Craniopharyngioma
Genetic obesity
Acromegaly
Rare diabetes mellitus

Supportgroups 1

13.4602344 52.5174429 Kongenitaler Hyperinsulinismus e.V.

Kongenitaler Hyperinsulinismus e.V.

Rigaer Straße 87

10247 Berlin

0176 92448289
Website
Email

Diazoxide-resistant diffuse hyperinsulinism
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Diazoxide-resistant hyperinsulinism
Diazoxide-sensitive diffuse hyperinsulinism
Hyperinsulinism due to UCP2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Congenital hyperinsulinism due to HNF4A deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Hyperinsulinism due to INSR deficiency
Congenital isolated hyperinsulinism
Hyperinsulinism-hyperammonemia syndrome
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

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