OMIA group 487

Hydrocephalus

The chain reaches the human disease Beemer-Ertbruggen syndrome, which Mondo defines as: “Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.” It reaches 18 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 12 species entries marked as a defect.
Human disease

Reached

19 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

1 Open Targets association, with a best score of 0.83.
Drugs

Stopped here

No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

63.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.83	28.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

normal pressure hydrocephalus

55.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	A drug has reached phase 3 for this disease	20.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

basal cell nevus syndrome 1

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Beemer-Ertbruggen syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

chromosome 8Q12.1-q21.2 deletion syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Cole-Carpenter syndrome 1

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

growth delay-hydrocephaly-lung hypoplasia syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

HEC syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

hydrocephalus, nonsyndromic, autosomal recessive 1

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

hydrocephaly-cerebellar agenesis syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

hydrocephaly-tall stature-joint laxity syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

thoracic dysplasia-hydrocephalus syndrome

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

VACTERL association, X-linked, with or without hydrocephalus

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

VACTERL with hydrocephalus

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
dog	Canis lupus familiaris	OMIA:000487-9615	Yes
domestic cat	Felis catus	OMIA:000487-9685	Yes
domestic cattle	Bos taurus	OMIA:000487-9913	Yes
golden hamster	Mesocricetus auratus	OMIA:000487-10036	Yes
horse	Equus caballus	OMIA:000487-9796	Yes
llama	Lama glama	OMIA:000487-9844	Yes
pig	Sus scrofa	OMIA:000487-9823	Yes
puma	Puma concolor	OMIA:000487-9696	Yes
rabbit	Oryctolagus cuniculus	OMIA:000487-9986	Yes
sheep	Ovis aries	OMIA:000487-9940	Yes
tiger	Panthera tigris	OMIA:000487-9694	Yes
yellow-crowned parrot	Amazona ochrocephala	OMIA:000487-151761	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
dog	No gene	OMIA records no gene for this species entry.
domestic cat	No gene	OMIA records no gene for this species entry.
domestic cattle	No gene	OMIA records no gene for this species entry.
golden hamster	No gene	OMIA records no gene for this species entry.
horse	B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 NCBI Gene 100058647	B3GALNT2 Ensembl	one to one
llama	No gene	OMIA records no gene for this species entry.
pig	No gene	OMIA records no gene for this species entry.
puma	No gene	OMIA records no gene for this species entry.
rabbit	No gene	OMIA records no gene for this species entry.
sheep	No gene	OMIA records no gene for this species entry.
tiger	No gene	OMIA records no gene for this species entry.
yellow-crowned parrot	No gene	OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0009361	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius	OMIA's OMIM numbers
MONDO:0958174	basal cell nevus syndrome 1	OMIA's OMIM numbers
MONDO:0008857	Beemer-Ertbruggen syndrome Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	OMIA's OMIM numbers
MONDO:0010852	chromosome 8Q12.1-q21.2 deletion syndrome	OMIA's OMIM numbers
MONDO:0007204	Cole-Carpenter syndrome 1 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.	OMIA's OMIM numbers
MONDO:0007401	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	OMIA's OMIM numbers
MONDO:0009362	growth delay-hydrocephaly-lung hypoplasia syndrome Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	OMIA's OMIM numbers
MONDO:0010901	HEC syndrome HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.	OMIA's OMIM numbers
MONDO:0010972	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	OMIA's OMIM numbers
MONDO:0009360	hydrocephalus, nonsyndromic, autosomal recessive 1 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.	OMIA's OMIM numbers
MONDO:0010612	hydrocephaly-cerebellar agenesis syndrome This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.	OMIA's OMIM numbers
MONDO:0009363	hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	OMIA's OMIM numbers
MONDO:0009364	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.	OMIA's OMIM numbers
MONDO:0014071	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.	OMIA's OMIM numbers
MONDO:0009366	normal pressure hydrocephalus A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)	OMIA's OMIM numbers
MONDO:0010115	thoracic dysplasia-hydrocephalus syndrome	OMIA's OMIM numbers
MONDO:0010752	VACTERL association, X-linked, with or without hydrocephalus	OMIA's OMIM numbers
MONDO:0010172	VACTERL with hydrocephalus VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.	OMIA's OMIM numbers
MONDO:0010611	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
B3GALNT2	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	0.83	459	Genetic association 0.92 Genetic literature 0.85

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.