Comparative

OMIA group 770

Tremor, X-linked, PLP1-related

The chain reaches the human disease hereditary spastic paraplegia 2, which Mondo defines as: “Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.” It reaches 1 more human disease, 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.

  1. Animal disease

    Reached

    OMIA records it in 4 species entries marked as a defect.

  2. Human disease

    Reached

    2 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.85.

  5. 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.

Pelizaeus-Merzbacher spectrum disorder

69.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.85 29.9 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 Both routes found this disease 10.0 of 10
Species 4 naturally occurring species entries marked as a defect 10.0 of 10
hereditary spastic paraplegia 2

64.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.83 29.0 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 4 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:000770-9615 Yes
pig Sus scrofa OMIA:000770-9823 Yes
rabbit Oryctolagus cuniculus OMIA:000770-9986 Yes
Rhesus monkey Macaca mulatta OMIA:000770-9544 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 PLP1 proteolipid protein 1 NCBI Gene 481002 PLP1 Ensembl one to one
pig No gene OMIA records no gene for this species entry.
rabbit PLP1 proteolipid protein 1 NCBI Gene 100009169 Ensembl does not know this NCBI Gene identifier.
Rhesus monkey PLP1 proteolipid protein 1 NCBI Gene 697887 PLP1 Ensembl one to one

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.

The two routes found some of the same diseases, but not all.

Mondo disease Name Found by
MONDO:0010733 hereditary spastic paraplegia 2 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. OMIA's OMIM numbers
MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. Both routes

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
PLP1 Pelizaeus-Merzbacher spectrum disorder 0.85 624 Genetic association 0.97 Literature 0.90 Genetic literature 0.82 Animal model 0.56
PLP1 hereditary spastic paraplegia 2 0.83 332 Genetic association 0.91 Genetic literature 0.84 Animal model 0.48 Literature 0.19

Drugs

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