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OPD1
MCID: OTP006
MIFTS: 59
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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:58
otopalatodigital syndrome type 1
Inheritance: X-linked dominant; OMIM®:57 (Updated 20-May-2021)
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Ear diseases Bone diseases Oral diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases External Ids:
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90650 Definition A disorder that 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. Epidemiology To date, more than 100 cases have been described in the world literature. Clinical description OPD1 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. Etiology OPD1 is caused by gain of function mutations in the gene FLNA (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 counseling OPD1 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.
MalaCards based summary : Otopalatodigital Syndrome, Type I, also known as otopalatodigital syndrome type 1, is related to rubinstein-taybi syndrome 1 and chromosome 16p13.3 deletion syndrome, proximal. An important gene associated with Otopalatodigital Syndrome, Type I is FLNA (Filamin A), and among its related pathways/superpathways are Chromatin organization and Prolactin Signaling Pathway. The drugs Valproic acid and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and heart, and related phenotypes are hearing impairment and skeletal dysplasia Disease Ontology : 12 An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has material basis in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28. MedlinePlus Genetics : 43 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, Melnick-Needles syndrome, and terminal osseous dysplasia. 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 or toes (digits).Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a broad, flat nose. Affected individuals have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; unusually long second toes; and a wide gap between the first and second toes (known as a sandal gap). Affected individuals also have hearing loss.Infants with otopalatodigital syndrome type 1 may be born with an opening in the roof of the mouth (a cleft palate). Individuals with this condition often have fewer teeth than normal (hypodontia). They may have mild abnormal curvature (bowing) of their limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family.Females with otopalatodigital syndrome type 1 often have more variable signs and symptoms compared to affected males, with females typically having fewer signs and symptoms. 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) (Updated 20-May-2021) UniProtKB/Swiss-Prot : 72 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. Wikipedia : 73 Rubinstein-Taybi syndrome (RTS), is a rare genetic condition characterized by short stature, moderate to... more... |
Human phenotypes related to Otopalatodigital Syndrome, Type I:58 31 (show top 50) (show all 62)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:311300 (Updated 20-May-2021)MGI Mouse Phenotypes related to Otopalatodigital Syndrome, Type I:46
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Drugs for Otopalatodigital Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Cochrane evidence based reviews: oto-palato-digital syndrome type 1 |
MalaCards organs/tissues related to Otopalatodigital Syndrome, Type I:40
Bone,
Pituitary,
Heart,
Lung,
Spinal Cord,
Eye,
Adrenal Gland
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Articles related to Otopalatodigital Syndrome, Type I:(show top 50) (show all 704)
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Genes related to Otopalatodigital Syndrome, Type I (1 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Otopalatodigital Syndrome, Type I:6 (show all 24)
UniProtKB/Swiss-Prot genetic disease variations for Otopalatodigital Syndrome, Type I:72
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Search
GEO
for disease gene expression data for Otopalatodigital Syndrome, Type I.
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Pathways related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:(show all 21)
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Cellular components related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:
Biological processes related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:
Molecular functions related to Otopalatodigital Syndrome, Type I according to GeneCards Suite gene sharing:
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