Details of Disease

General Information of Disease (ID: DISFHDE1)

• Disease Name: Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
• Synonyms: Mlcrd syndrome; lymphedema and retinal Folds with microcephaly and microphthalmos; microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant; Cdmmr syndrome; microcephaly-lymphedema-chorioretinopathy syndrome; microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant; MCLMR; lymphedema, microcephaly, chorioretinopathy syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; microcephaly lymphedema chorioretinal dysplasia; MLCRD; microcephaly, lymphedema, chorioretinal dysplasia syndrome; chorioretinal dysplasia-microcephaly-intellectual disability syndrome; microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability; microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; lymphedema, microcephaly and chorioretinopathy syndrome; chorioretinal dysplasia-microcephaly-mental retardation syndrome
• Definition: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DIS6SVEE: Syndromic disease
  DIS1GZDX: Neurovascular disorder
  DIS4D8VL: Lymphatic malformation
  DISGGL77: Inherited retinal dystrophy
  DISFHDE1: Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
• Disease Identifiers:
  MONDO ID: MONDO_0007918
  MESH ID: C537711
  UMLS CUI: C1835265
  OMIM ID: 152950
  MedGen ID: 320559
  Orphanet ID: 2526

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KIF11	TTBGTCW	Limited	Biomarker	[1]
KIF11	TTTRP0H	Definitive	Autosomal dominant	[2]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APTX	OTPAS5G8	Definitive	Genetic Variation	[3]
KIF11	OTHRGLCQ	Definitive	Autosomal dominant	[2]
KIF1A	OT3JVEGV	Definitive	Genetic Variation	[3]
SETX	OTG3JNOQ	Definitive	Genetic Variation	[3]
SPTBN2	OTDMJ75N	Definitive	Genetic Variation	[3]

References

• [1] Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.Sci Rep. 2016 May 23;6:26564. doi: 10.1038/srep26564.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.Brain Dev. 2019 Feb;41(2):150-157. doi: 10.1016/j.braindev.2018.09.007. Epub 2018 Oct 6.