Details of Disease | DrugMAP

General Information of Disease (ID: DIS4IBS6)

Disease Name	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Synonyms	MKS12; Meckel syndrome 12; Meckel syndrome type 12
Definition	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISXPHOY: Meckel syndrome DISMCQP6: Arthrogryposis multiplex congenita DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DIS4IBS6: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Disease Identifiers	MONDO ID MONDO_0014552 UMLS CUI C4015701 OMIM ID 616258 MedGen ID 864138 Orphanet ID 439897 SNOMED CT ID 1237342004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIF14	OTXHT4JM	Strong	Autosomal recessive	[1]
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References

1	Kif14 mutation causes severe brain malformation and hypomyelination. PLoS One. 2013;8(1):e53490. doi: 10.1371/journal.pone.0053490. Epub 2013 Jan 4.