Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders

SA Boyadjiev, EW Jabs

Research output: Contribution to journalArticle

Abstract

In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutations. We searched for human developmental disorders that present with structural defects during the perinatal period, and identified 162 such entries. We classified these entries by phenotypic features (e.g., skeletal dysplasias, axis and laterality defects, or eye disorders) and by the type of gene mutated (e.g., genes coding for transcription factors, structural proteins, enzymes, or receptors). Thirty-eight entries have allelic variants with gene mutations causing different functional consequences, thereby altering their interactions with modifying genes. Thirty-two entries show genetic heterogeneity due to either functional redundancy of more than one gene or genes that interact in common developmental pathways. Although many different types of genes are mutated in developmental disorders, we found that the disease genes are transcription factors in 49 entries. Mouse models are available for many of the human conditions, with the majority of these mutants being secondary to null mutations. These data allow us to begin to elucidate the complex developmental pathways involved in the molecular pathogenesis of human malformations.

Original languageEnglish (US)
Pages (from-to)253-266
Number of pages14
JournalClinical Genetics
Volume57
Issue number4
DOIs
StatePublished - 2000

Fingerprint

Genetic Databases
Knowledge Bases
Genes
Mutation
Transcription Factors
Inborn Genetic Diseases
Genetic Loci
Genetic Heterogeneity
Genotype
Phenotype

Keywords

  • Birth defect
  • Developmental biology
  • Genetic databases
  • Human genes
  • Malformation
  • Mouse models

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. / Boyadjiev, SA; Jabs, EW.

In: Clinical Genetics, Vol. 57, No. 4, 2000, p. 253-266.

Research output: Contribution to journalArticle

@article{0ed1318daa5f4344952fbb096413cd44,
title = "Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders",
abstract = "In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutations. We searched for human developmental disorders that present with structural defects during the perinatal period, and identified 162 such entries. We classified these entries by phenotypic features (e.g., skeletal dysplasias, axis and laterality defects, or eye disorders) and by the type of gene mutated (e.g., genes coding for transcription factors, structural proteins, enzymes, or receptors). Thirty-eight entries have allelic variants with gene mutations causing different functional consequences, thereby altering their interactions with modifying genes. Thirty-two entries show genetic heterogeneity due to either functional redundancy of more than one gene or genes that interact in common developmental pathways. Although many different types of genes are mutated in developmental disorders, we found that the disease genes are transcription factors in 49 entries. Mouse models are available for many of the human conditions, with the majority of these mutants being secondary to null mutations. These data allow us to begin to elucidate the complex developmental pathways involved in the molecular pathogenesis of human malformations.",
keywords = "Birth defect, Developmental biology, Genetic databases, Human genes, Malformation, Mouse models",
author = "SA Boyadjiev and EW Jabs",
year = "2000",
doi = "10.1034/j.1399-0004.2000.570403.x",
language = "English (US)",
volume = "57",
pages = "253--266",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders

AU - Boyadjiev, SA

AU - Jabs, EW

PY - 2000

Y1 - 2000

N2 - In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutations. We searched for human developmental disorders that present with structural defects during the perinatal period, and identified 162 such entries. We classified these entries by phenotypic features (e.g., skeletal dysplasias, axis and laterality defects, or eye disorders) and by the type of gene mutated (e.g., genes coding for transcription factors, structural proteins, enzymes, or receptors). Thirty-eight entries have allelic variants with gene mutations causing different functional consequences, thereby altering their interactions with modifying genes. Thirty-two entries show genetic heterogeneity due to either functional redundancy of more than one gene or genes that interact in common developmental pathways. Although many different types of genes are mutated in developmental disorders, we found that the disease genes are transcription factors in 49 entries. Mouse models are available for many of the human conditions, with the majority of these mutants being secondary to null mutations. These data allow us to begin to elucidate the complex developmental pathways involved in the molecular pathogenesis of human malformations.

AB - In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutations. We searched for human developmental disorders that present with structural defects during the perinatal period, and identified 162 such entries. We classified these entries by phenotypic features (e.g., skeletal dysplasias, axis and laterality defects, or eye disorders) and by the type of gene mutated (e.g., genes coding for transcription factors, structural proteins, enzymes, or receptors). Thirty-eight entries have allelic variants with gene mutations causing different functional consequences, thereby altering their interactions with modifying genes. Thirty-two entries show genetic heterogeneity due to either functional redundancy of more than one gene or genes that interact in common developmental pathways. Although many different types of genes are mutated in developmental disorders, we found that the disease genes are transcription factors in 49 entries. Mouse models are available for many of the human conditions, with the majority of these mutants being secondary to null mutations. These data allow us to begin to elucidate the complex developmental pathways involved in the molecular pathogenesis of human malformations.

KW - Birth defect

KW - Developmental biology

KW - Genetic databases

KW - Human genes

KW - Malformation

KW - Mouse models

UR - http://www.scopus.com/inward/record.url?scp=0034056133&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034056133&partnerID=8YFLogxK

U2 - 10.1034/j.1399-0004.2000.570403.x

DO - 10.1034/j.1399-0004.2000.570403.x

M3 - Article

VL - 57

SP - 253

EP - 266

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -