ZFIN Human Disease: Rett syndrome

OBO ID: DOID:1206

Term Name:	Rett syndrome		Search Ontology:
Synonyms:	cerebroatrophic hyperammonemia Rett's disorder
Definition:	A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (3)
References:	GARD:5696 ICD10CM:F84.2 MESH:D015518 NCI:C75488 OMIM:312750 OMIM:613454 SNOMEDCT_US_2023_03_01:192583003 UMLS_CUI:C0035372
Ontology:	Human Disease ( DOID:1206 )

Relationships

is a type of:	pervasive developmental disorder pervasive developmental disorder Show first 5 Terms

OTHER Rett syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FOXG1	foxg1a	Rett syndrome, congenital variant	613454
MECP2	mecp2	Rett syndrome, atypical	312750
		Rett syndrome	312750
		Rett syndrome, preserved speech variant	312750

ZEBRAFISH MODELS

Fish	Conditions	Citations
mecp2^fh232/fh232	standard conditions	(2)
mecp2^fh232/fh232 (AB)	standard conditions	Pietri et al., 2013
AB + MO5-mecp2	standard conditions	Leong et al., 2015
WT + CRISPR1-mecp2	standard conditions	Gao et al., 2015
WT + MO2-mecp2	standard conditions	Gao et al., 2015

PHENOTYPE No data available

CITATIONS (6)