MIGSB
MCID: MCR371
MIFTS: 20

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 57 72 29 6
Migsb 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly, growth deficiency, seizures, and brain malformations:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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, and related phenotypes are spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 72 Microcephaly, growth deficiency, seizures, and brain malformations: An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency, microcephaly, facial dysmorphism, early-onset seizures, brain malformations such as partial agenesis of the corpus callosum and simplified gyration, and poor or absent psychomotor development.

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

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

Human phenotypes related to Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 failure to thrive 31 HP:0001508
4 eeg abnormality 31 HP:0002353
5 depressed nasal bridge 31 HP:0005280
6 microcephaly 31 HP:0000252
7 optic atrophy 31 HP:0000648
8 short stature 31 HP:0004322
9 flexion contracture 31 HP:0001371
10 absent speech 31 HP:0001344
11 intrauterine growth retardation 31 HP:0001511
12 proptosis 31 HP:0000520
13 short philtrum 31 HP:0000322
14 high forehead 31 HP:0000348
15 profound global developmental delay 31 HP:0012736
16 tented upper lip vermilion 31 HP:0010804
17 partial agenesis of the corpus callosum 31 HP:0001338
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Head And Neck Mouth:
tented upper lip
bulged alveolar ridge

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

Abdomen Gastrointestinal:
tube feeding

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

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

Clinical features from OMIM®:

618346 (Updated 20-May-2021)

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...

Genetic tests related to Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

# Genetic test Affiliating Genes
1 Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 29 WDR4

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

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

40
Brain

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

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

# Title Authors PMID Year
1
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 57 6
26416026 2015

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR4 NM_018669.6(WDR4):c.509G>T (p.Arg170Leu) SNV Pathogenic 619600 rs1292041526 GRCh37: 21:44282449-44282449
GRCh38: 21:42862339-42862339
2 WDR4 NM_018669.6(WDR4):c.652T>C (p.Tyr218His) SNV Uncertain significance 1028608 GRCh37: 21:44275866-44275866
GRCh38: 21:42855756-42855756

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

72
# Symbol AA change Variation ID SNP ID
1 WDR4 p.Arg170Leu VAR_081829

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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