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Microcephaly with or without short stature
Microcephaly with or without short stature
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Subtype of:
Microcephaly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
microcephaly with or without short stature
MONDO:0100346
MONDO_0013907
CEP152
Unknown
—
ClinGen
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2
+4 more
RTTN
Unknown
22939636
Open Targets
—
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Microcephaly with or without short stature.
5
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Microcephaly, short stature, and polymicrogyria with seizures
1 shared gene
RTTN
Related via 1 shared gene including RTTN.
Bilateral generalized polymicrogyria
1 shared gene
RTTN
Related via 1 shared gene including RTTN.
Microcephalic primordial dwarfism
1 shared gene
RTTN
Related via 1 shared gene including RTTN.
Laryngeal carcinoma
1 shared gene
RTTN
Related via 1 shared gene including RTTN.
Congenital microcephaly
2 shared genes
CEP152, RTTN
Related via 2 shared genes including CEP152, RTTN.
1
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