Comparative

OMIA group 595

Leukocyte adhesion deficiency, type I

The chain reaches the human disease leukocyte adhesion deficiency 1, which Mondo defines as: “Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.”

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 5 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

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

  5. Drugs

    Reached

    6 ChEMBL drugs, 2 approved. None has been tested for this disease.

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.

leukocyte adhesion deficiency 1

84.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.83 29.0 of 35
Drugs A drug has reached phase 2 for this disease 15.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 5 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:000595-9615 Yes
domestic cat Felis catus OMIA:000595-9685 Yes
domestic cattle Bos taurus OMIA:000595-9913 Yes
water buffalo Bubalus bubalis OMIA:000595-89462 Yes
zebu cattle Bos indicus OMIA:000595-9915 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 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) NCBI Gene 403770 ITGB2 Ensembl one to one
domestic cat ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) NCBI Gene 101087258 ITGB2 Ensembl one to one
domestic cattle ITGB2 integrin subunit beta 2 NCBI Gene 281877 ITGB2 Ensembl one to one
water buffalo No gene OMIA records no gene for this species entry.
zebu cattle 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.

Mondo disease Name Found by
MONDO:0007293 leukocyte adhesion deficiency 1 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. 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
ITGB2 leukocyte adhesion deficiency 1 0.83 911 Genetic association 0.93 Genetic literature 0.83 Animal model 0.39 Literature 0.27

Drugs

Drugs act on ITGB2, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Efalizumab ITGB2 inhibitor Approved No
Lifitegrast ITGB2 antagonist Approved No
Erlizumab ITGB2 negative modulator Unknown No
Mln-01 ITGB2 inhibitor Unknown No
Mlnm-2201 ITGB2 inhibitor Unknown No
Rovelizumab ITGB2 antagonist Unknown No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.