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OPD1
MCID: OTP006
MIFTS: 40
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Otopalatodigital Syndrome, Type I (OPD1)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Otopalatodigital Syndrome, Type I:
Characteristics:Orphanet epidemiological data:59
otopalatodigital syndrome type 1
Inheritance: X-linked dominant; OMIM:57
Inheritance:
x-linked dominant
Miscellaneous:
frontometaphyseal dysplasia (fmd, ) is an allelic disorder melnick-needles syndrome (mns, ) is an allelic disorder periventricular heterotopia is an allelic disorder intermediate expression in females complete manifestation in males otopalatodigital syndrome type ii (opd2, ) is an allelic disorder with a more severe, frequently lethal phenotype HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Ear diseases Bone diseases Oral diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
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NIH Rare Diseases
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53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90650Disease definitionOtopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.EpidemiologyTo date, more than 100 cases have been described in the world literature.Clinical descriptionOPD1 is a congenital disorder characterized by generalized skeletal dysplasia which include camptodactyly, long spatulate fingers, short first digits (''tree frog'' hands and feet), pectus carinatum, mild campomelia, mild femoral bowing, limitation of joint movement (elbow extension, wrist abduction) and malformed auditory ossicles leading to conductive hearing loss in some individuals. Additional features include typical craniofacial anomalies (occipital prominence, frontal bossing with prominent supraorbital ridges, flat nasal bridge, hypertelorism, microstomia, dental abnormalities, and cleft palate (pugilistic face)). In affected females, a similar but usually milder spectrum of expressivity is observed.EtiologyOPD1 is caused by gain of function mutations in the geneFLNA (Xq28) that encodes filamin A. However the pathogenesis of OPD1 is still elusive. OPD1 is allelic with 4 other skeletal dysplasias (OPD2, Melnick-Needles syndrome (MNS), terminal osseous dysplasia - pigmentary defects (TOD) and frontometaphyseal dysplasia (FMD)).Genetic counselingOPD1 is inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.Visit the Orphanet disease page for more resources.
MalaCards based summary : Otopalatodigital Syndrome, Type I, also known as oto-palato-digital syndrome, type i, is related to rubinstein-taybi syndrome 2 and rubinstein-taybi syndrome 1. An important gene associated with Otopalatodigital Syndrome, Type I is FLNA (Filamin A). The drugs Valproic Acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertelorism and prominent supraorbital ridges Genetics Home Reference : 25 Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). OMIM : 57 Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1; 305620), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' (311300) UniProtKB/Swiss-Prot : 75 Otopalatodigital syndrome 1: X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto- palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:311300Human phenotypes related to Otopalatodigital Syndrome, Type I:59 32 (show top 50) (show all 62)
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Drugs for Otopalatodigital Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
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MalaCards organs/tissues related to Otopalatodigital Syndrome, Type I:41
Bone,
Kidney,
Heart,
Pituitary,
T Cells,
B Cells
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Articles related to Otopalatodigital Syndrome, Type I:
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Genes related to Otopalatodigital Syndrome, Type I (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Otopalatodigital Syndrome, Type I:75
ClinVar genetic disease variations for Otopalatodigital Syndrome, Type I:6 (show all 34)
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Search
GEO
for disease gene expression data for Otopalatodigital Syndrome, Type I.
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