MCPH27
MCID: MCR383
MIFTS: 12

Microcephaly 27, Primary, Autosomal Dominant (MCPH27)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly 27, Primary, Autosomal Dominant

MalaCards integrated aliases for Microcephaly 27, Primary, Autosomal Dominant:

Name: Microcephaly 27, Primary, Autosomal Dominant 57 6
Mcph27 57

Classifications:



External Ids:

OMIM® 57 619180
OMIM Phenotypic Series 57 PS251200

Summaries for Microcephaly 27, Primary, Autosomal Dominant

OMIM® : 57 Autosomal dominant primary microcephaly-27 (MCPH27) is characterized small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging (summary by Parry et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (619180) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly 27, Primary, Autosomal Dominant, is also known as mcph27. An important gene associated with Microcephaly 27, Primary, Autosomal Dominant is LMNB2 (Lamin B2).

Related Diseases for Microcephaly 27, Primary, Autosomal Dominant

Symptoms & Phenotypes for Microcephaly 27, Primary, Autosomal Dominant

Clinical features from OMIM®:

619180 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly 27, Primary, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Microcephaly 27, Primary, Autosomal Dominant

Genetic Tests for Microcephaly 27, Primary, Autosomal Dominant

Anatomical Context for Microcephaly 27, Primary, Autosomal Dominant

Publications for Microcephaly 27, Primary, Autosomal Dominant

Articles related to Microcephaly 27, Primary, Autosomal Dominant:

# Title Authors PMID Year
1
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. 6 57
33033404 2021
2
Mcp and Fab-7: molecular analysis of putative boundaries of cis-regulatory domains in the bithorax complex of Drosophila melanogaster. 61
7915032 1994

Variations for Microcephaly 27, Primary, Autosomal Dominant

ClinVar genetic disease variations for Microcephaly 27, Primary, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNB2 NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys) SNV Pathogenic 997434 GRCh37: 19:2434303-2434303
GRCh38: 19:2434305-2434305
2 LMNB2 NM_032737.4(LMNB2):c.160A>C (p.Asn54His) SNV Pathogenic 997435 GRCh37: 19:2456772-2456772
GRCh38: 19:2456774-2456774

Expression for Microcephaly 27, Primary, Autosomal Dominant

Search GEO for disease gene expression data for Microcephaly 27, Primary, Autosomal Dominant.

Pathways for Microcephaly 27, Primary, Autosomal Dominant

GO Terms for Microcephaly 27, Primary, Autosomal Dominant

Sources for Microcephaly 27, Primary, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....