Version: 8.0.0
Date: Tue Jan 28 2025
10 results
Disease Genes: MECP2 (Hsa)

autistic disorder

Disease
Source: DOID:12849
Definition: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Genes: MECP2 (Hsa)

hepatocellular carcinoma

Disease
Source: DOID:684
Definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Genes: MECP2 (Hsa)

transient cerebral ischemia

Disease
Source: DOID:224
Definition: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
Genes: MECP2 (Hsa)

gastrointestinal system disease

Disease
Source: DOID:77
Definition: A disease of anatomical entity that is located_in the gastrointestinal tract.
Genes: MECP2 (Hsa)

syndromic X-linked intellectual disability Lubs type

Disease
Source: DOID:0060799
Definition: A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
Genes: MECP2 (Hsa)

fetal alcohol spectrum disorder

Disease
Source: DOID:0050696
Definition: A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
Genes: MECP2 (Hsa)

Rett syndrome

Disease
Source: DOID:1206
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.
Genes: MECP2 (Hsa)

X-linked intellectual disability-psychosis-macroorchidism syndrome

Disease
Source: DOID:0060827
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
Genes: MECP2 (Hsa)

visual epilepsy

Disease
Source: DOID:11832
Definition: Not Available
Genes: MECP2 (Hsa)

severe congenital encephalopathy due to MECP2 mutation

Disease
Source: DOID:0111932
Definition: A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
Genes: MECP2 (Hsa)