Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H00267 Holoprosencephaly
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06501 HH signaling
H00267 Holoprosencephaly
Cellular process
nt06512 Chromosome cohesion and segregation
H00267 Holoprosencephaly
De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I
Title
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M
Drissi I, Fletcher E, Shaheen R, Nahorski M, Alhashem AM, Lisgo S, Fernandez-Jaen A, Schon K, Tlili-Graiess K, Smithson SF, Lindsay S, J Sharpe H, Alkuraya FS, Woods G
Title
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in STAG2 cause this disease. STAG2 encodes a cohesin subunit.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02582 Mullegama-Klein-Martinez syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06512 Chromosome cohesion and segregation
H02582 Mullegama-Klein-Martinez syndrome