MIGSB
MCID: MCR371
MIFTS: 14

Microcephaly, Growth Deficiency, Seizures, and Brain Malformations (MIGSB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Microcephaly, Growth Deficiency, Seizures, and Brain...

MalaCards integrated aliases for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

Name: Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 58 6
Migsb 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
two unrelated consanguineous egyptian families have been reported (last curated march 2019)


Classifications:



External Ids:

OMIM 58 618346

Summaries for Microcephaly, Growth Deficiency, Seizures, and Brain...

OMIM : 58 Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration (summary by Shaheen et al., 2015). (618346)

MalaCards based summary : Microcephaly, Growth Deficiency, Seizures, and Brain Malformations, is also known as migsb. An important gene associated with Microcephaly, Growth Deficiency, Seizures, and Brain Malformations is WDR4 (WD Repeat Domain 4). Affiliated tissues include brain, bone and eye.

Related Diseases for Microcephaly, Growth Deficiency, Seizures, and Brain...

Symptoms & Phenotypes for Microcephaly, Growth Deficiency, Seizures, and Brain...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
absent speech
partial agenesis of the corpus callosum
more
Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
short philtrum
high forehead

Skeletal:
contractures

Abdomen Gastrointestinal:
tube feeding

Growth Weight:
low weight (down to -6.5 sd)

Skeletal Pelvis:
unossified pubic bones

Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Head And Neck Eyes:
optic atrophy
prominent eyes
absent visual following or fixation

Skeletal Limbs:
short long bones
broad metaphyses

Head And Neck Mouth:
tented upper lip
bulged alveolar ridge

Growth Height:
short stature (down to -9.5 sd)

Head And Neck Head:
microcephaly (down to -10 sd)

Clinical features from OMIM:

618346

Drugs & Therapeutics for Microcephaly, Growth Deficiency, Seizures, and Brain...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations

Genetic Tests for Microcephaly, Growth Deficiency, Seizures, and Brain...

Anatomical Context for Microcephaly, Growth Deficiency, Seizures, and Brain...

MalaCards organs/tissues related to Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

42
Brain, Bone, Eye

Publications for Microcephaly, Growth Deficiency, Seizures, and Brain...

Articles related to Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

# Title Authors Year
1
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. ( 26416026 )
2015

Variations for Microcephaly, Growth Deficiency, Seizures, and Brain...

ClinVar genetic disease variations for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR4 NM_033661.4(WDR4): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 44282449: 44282449
2 WDR4 NM_033661.4(WDR4): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 42862339: 42862339

Expression for Microcephaly, Growth Deficiency, Seizures, and Brain...

Search GEO for disease gene expression data for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations.

Pathways for Microcephaly, Growth Deficiency, Seizures, and Brain...

GO Terms for Microcephaly, Growth Deficiency, Seizures, and Brain...

Sources for Microcephaly, Growth Deficiency, Seizures, and Brain...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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