FMD2
MCID: FRN048
MIFTS: 35
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Frontometaphyseal Dysplasia 2 (FMD2)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Frontometaphyseal Dysplasia 2:Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Ear diseases |
OMIM :
56
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).
For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620). (617137)
MalaCards based summary : Frontometaphyseal Dysplasia 2, also known as fmd2, is related to frontometaphyseal dysplasia and neural tube defects. An important gene associated with Frontometaphyseal Dysplasia 2 is MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7), and among its related pathways/superpathways is Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, skin and ovary, and related phenotypes are sensorineural hearing impairment and gastroesophageal reflux Disease Ontology : 12 A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has material basis in heterozygous mutation in MAP3K7 on chromosome 6q15. UniProtKB/Swiss-Prot : 73 Frontometaphyseal dysplasia 2: A form of frontometaphyseal dysplasia, a progressive sclerosing skeletal dysplasia affecting the long bones and skull. Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant. |
Diseases in the Frontometaphyseal Dysplasia family:
Diseases related to Frontometaphyseal Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Frontometaphyseal Dysplasia 2:![]() |
Human phenotypes related to Frontometaphyseal Dysplasia 2:31 (show all 50)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617137 |
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MalaCards organs/tissues related to Frontometaphyseal Dysplasia 2:40
Bone,
Skin,
Ovary,
Uterus,
Testes,
Heart,
Endothelial
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Articles related to Frontometaphyseal Dysplasia 2:
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ClinVar genetic disease variations for Frontometaphyseal Dysplasia 2:6
UniProtKB/Swiss-Prot genetic disease variations for Frontometaphyseal Dysplasia 2:73
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Search
GEO
for disease gene expression data for Frontometaphyseal Dysplasia 2.
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Biological processes related to Frontometaphyseal Dysplasia 2 according to GeneCards Suite gene sharing:
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