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常染色体隐性遗传小头畸形

Autosomal recessive primary microcephaly

ORPHA:2512疾病亚型

定义 英文原文（暂无中文）

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

别名

真性小脑髓症

基本事实

遗传方式
常染色体隐性
发病年龄
产前、新生儿期
患病率
1-9 / 1 000 000（Specific population）

相关基因 29

基因名称关联类型
CDK5RAP2CDK5 regulatory subunit associated protein 2Disease-causing germline mutation(s) in
CPAPcentrosome assembly and centriole elongation proteinDisease-causing germline mutation(s) in
ASPMassembly factor for spindle microtubulesDisease-causing germline mutation(s) in
MCPH1microcephalin 1Disease-causing germline mutation(s) in
STILSTIL centriolar assembly proteinDisease-causing germline mutation(s) in
WDR62WD repeat domain 62Disease-causing germline mutation(s) in
CEP152centrosomal protein 152Disease-causing germline mutation(s) in
CEP135centrosomal protein 135Disease-causing germline mutation(s) in
KNL1kinetochore scaffold 1Disease-causing germline mutation(s) in
PHC1polyhomeotic homolog 1Disease-causing germline mutation(s) in
CDK6cyclin dependent kinase 6Disease-causing germline mutation(s) in
CENPEcentromere protein EDisease-causing germline mutation(s) in
SASS6SAS-6 centriolar assembly proteinDisease-causing germline mutation(s) in
MFSD2AMFSD2 lysolipid transporter A, lysophospholipidDisease-causing germline mutation(s) (loss of function) in
KIF14kinesin family member 14Disease-causing germline mutation(s) in
ANKLE2ankyrin repeat and LEM domain containing 2Disease-causing germline mutation(s) in
CITcitron rho-interacting serine/threonine kinaseDisease-causing germline mutation(s) in
TAF13TATA-box binding protein associated factor 13Disease-causing germline mutation(s) in
PYCR2pyrroline-5-carboxylate reductase 2Disease-causing germline mutation(s) in
SARS1seryl-tRNA synthetase 1Disease-causing germline mutation(s) in
WARS1tryptophanyl-tRNA synthetase 1Disease-causing germline mutation(s) in
COPB2coat protein complex I subunit beta 2Disease-causing germline mutation(s) in
NCAPD3non-SMC condensin II complex subunit D3Disease-causing germline mutation(s) in
NUP37nucleoporin 37Disease-causing germline mutation(s) in
TRAPPC14trafficking protein particle complex subunit 14Disease-causing germline mutation(s) in
METTL5methyltransferase 5, N6-adenosineDisease-causing germline mutation(s) in
TRAPPC10trafficking protein particle complex subunit 10Disease-causing germline mutation(s) in
MCM7minichromosome maintenance complex component 7Disease-causing germline mutation(s) in
PDCD6IPprogrammed cell death 6 interacting proteinDisease-causing germline mutation(s) in

临床表型 17

极常见 99–80%9

  • 全面发育迟缓 HP:0001263
  • 脑灰质异位 HP:0002282
  • 生长延迟 HP:0001510
  • 重度智力障碍 HP:0010864
  • 小头畸形 HP:0000252
  • 身材矮小 HP:0004322
  • 额头倾斜 HP:0000340
  • 薄上唇红 HP:0000219
  • 睑裂上斜 HP:0000582

常见 79–30%8

  • 皮质骨形态异常 HP:0003103
  • 胼胝体发育不全 HP:0001274
  • 反射亢进 HP:0001347
  • 额叶发育不良 HP:0007333
  • 巨脑回 HP:0001302
  • 单侧肾缺如 HP:0000122
  • 巨脑室 HP:0002119
  • 膀胱输尿管返流 HP:0000076

外部标识与链接

OrphanetOMIM:251200OMIM:603802OMIM:604317MONDO:0016660GARD:12117ICD-10 Q02ICD-11 LA05.0ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）