1. Gene
  2. ANCR - Angelman syndrome chromosome region Gene

ANCR - Angelman syndrome chromosome region Gene

中文名称:天使综合症染色体区域

种属: Homo sapiens

基因 ID: 282 | 基因类型: other

关于 ANCR

功能概要

Angelman 综合征 (AS) 的特征是发育迟缓、智力障碍、运动或平衡障碍、癫痫发作以及言语和语言发育受限。大多数 AS 病例是由母体染色体 15q11-q13 区域缺失引起的。 Prader-Willi 综合征 (PWS) 是一种临床上截然不同的疾病,由 15q11-q13 区域的父系缺失引起。与 AS 相似的临床特征也见于染色体 15q11-q13 重复综合征。[RefSeq 提供,2017 年 7 月]

Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017]

关联疾病

疾病名称 别名
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Chromosome 15q11-Q13 Duplication Syndrome

15q11q13 Microduplication Syndrome

Duplication 15q11-Q13 Syndrome

Autism Susceptibility 4

15q11-Q13 Duplication Syndrome

Dup15q Syndrome

Duplication/Inversion 15q11

Idic(15)

Inv Dup(15)

Inverted Duplication 15

Isodicentric Chromosome 15

Isodicentric Chromosome 15 Syndrome

Non-Distal Tetrasomy 15q

15q11q13 Duplication Syndrome

Dup(15)(Q11q13)

Trisomy 15q11q13

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis lupus familiaris ANCR NCBI
Mus musculus ANCR NCBI
Rattus norvegicus ANCR NCBI
Macaca mulatta ANCR NCBI