Mulibrey Nanism [syndrom Mulibrey]

topical
1
Terms

syndrom mnohočetných malformací MULIBREY

 

Mulibrey Nanism Syndrome
Muscle-Liver-Brain-Eye Nanism
Nanism, Mulibrey
Perheentupa Syndrome

Persistent link   https://www.medvik.cz/link/D050336
Definition

Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.

Annotation
mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m
DUI
D050336 MeSH Browser
CUI
M0006898
History note
2006; use DWARFISM 1998-2005
Public note
2006; see DWARFISM 1998-2005

C Diseases
C05.116 Bone Diseases 792
C05.116.099.343 Dwarfism 97
C05.116.099.343.110 Achondroplasia 71
C05.116.099.343.250 Cockayne Syndrome 4
C05.116.099.343.347 Congenital Hypothyroidism 151
C05.116.099.343.445 Dwarfism, Pituitary 50
C05.116.099.343.679 Laron Syndrome 1
C05.116.099.343.796 Mulibrey Nanism 1
C05.116.099.343.957 Weill-Marchesani Syndrome 1
C16.320.240 Dwarfism 97
C16.320.240.500 Achondroplasia 71
C16.320.240.562 Cockayne Syndrome 4
C16.320.240.625 Congenital Hypothyroidism 151
C16.320.240.750 Laron Syndrome 1
C16.320.240.875 Mulibrey Nanism 1
C16.320.240.937 Silver-Russell Syndrome 3

Pericardial constriction with growth failure Disease MeSH Browser