MCPH26
MCID: MCR382
MIFTS: 18

Microcephaly 26, Primary, Autosomal Dominant (MCPH26)

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

Aliases & Classifications for Microcephaly 26, Primary, Autosomal Dominant

MalaCards integrated aliases for Microcephaly 26, Primary, Autosomal Dominant:

Name: Microcephaly 26, Primary, Autosomal Dominant 57 6
Mcph26 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation (in some patients)
onset at birth or early infancy


Classifications:



External Ids:

OMIM® 57 619179
OMIM Phenotypic Series 57 PS251200

Summaries for Microcephaly 26, Primary, Autosomal Dominant

OMIM® : 57 Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by Cristofoli et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (619179) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly 26, Primary, Autosomal Dominant, is also known as mcph26. An important gene associated with Microcephaly 26, Primary, Autosomal Dominant is LMNB1 (Lamin B1). Affiliated tissues include brain.

Related Diseases for Microcephaly 26, Primary, Autosomal Dominant

Symptoms & Phenotypes for Microcephaly 26, Primary, Autosomal Dominant

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic tetraplegia
inability to walk
enlarged ventricles
seizures (in some patients)
more
Head And Neck Nose:
depressed nasal bridge
short nose
prominent nasal root

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (range -3.6 to -12 sd)

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
long palpebral fissures
cortical visual impairment

Head And Neck Face:
long philtrum
pointed chin
sloping forehead
bitemporal narrowing
dysmorphic facial features, nonspecific (in some patients)

Skeletal Feet:
overlapping toes

Head And Neck Mouth:
gingival hypertrophy

Clinical features from OMIM®:

619179 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly 26, Primary, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Microcephaly 26, Primary, Autosomal Dominant

Genetic Tests for Microcephaly 26, Primary, Autosomal Dominant

Anatomical Context for Microcephaly 26, Primary, Autosomal Dominant

MalaCards organs/tissues related to Microcephaly 26, Primary, Autosomal Dominant:

40
Brain

Publications for Microcephaly 26, Primary, Autosomal Dominant

Articles related to Microcephaly 26, 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
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. 57 6
32910914 2020

Variations for Microcephaly 26, Primary, Autosomal Dominant

ClinVar genetic disease variations for Microcephaly 26, Primary, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNB1 NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly) SNV Pathogenic 915454 GRCh37: 5:126140563-126140563
GRCh38: 5:126804871-126804871
2 LMNB1 LMNB1, EX6-8 DEL Deletion Pathogenic 997429 GRCh37:
GRCh38:
3 LMNB1 NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) SNV Pathogenic 915455 GRCh37: 5:126113297-126113297
GRCh38: 5:126777605-126777605
4 LMNB1 NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp) SNV Pathogenic 915456 GRCh37: 5:126113324-126113324
GRCh38: 5:126777632-126777632
5 LMNB1 NM_005573.4(LMNB1):c.939+1G>A SNV Pathogenic 915457 GRCh37: 5:126147591-126147591
GRCh38: 5:126811899-126811899
6 LMNB1 NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro) SNV Pathogenic 997433 GRCh37: 5:126113469-126113469
GRCh38: 5:126777777-126777777

Expression for Microcephaly 26, Primary, Autosomal Dominant

Search GEO for disease gene expression data for Microcephaly 26, Primary, Autosomal Dominant.

Pathways for Microcephaly 26, Primary, Autosomal Dominant

GO Terms for Microcephaly 26, Primary, Autosomal Dominant

Sources for Microcephaly 26, 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
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