MLA
MCID: MCR165
MIFTS: 53
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Microphthalmia with Limb Anomalies (MLA)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Microphthalmia with Limb Anomalies:
Characteristics:Orphanet epidemiological data:58
microphthalmia with limb anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; HPO:31
microphthalmia with limb anomalies:
Clinical modifier death in infancy Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Bone diseases
ICD10:
32
33
Orphanet: 58
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Genetics Home Reference :
25
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).
The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.
MalaCards based summary : Microphthalmia with Limb Anomalies, also known as waardenburg anophthalmia syndrome, is related to childhood type dermatomyositis and encephalitis. An important gene associated with Microphthalmia with Limb Anomalies is SMOC1 (SPARC Related Modular Calcium Binding 1), and among its related pathways/superpathways are Innate Immune System and Toll-like Receptor Signaling Pathway. Affiliated tissues include bone, eye and kidney, and related phenotypes are prominent forehead and frontal bossing Disease Ontology : 12 A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material basis in homozygous mutation in the SMOC1 gene on chromosome 14q24. KEGG : 36 Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral microphthalmia, clinical anophthalmia, and limb abnormalities such as syndactyly, brachydactyly, camptodactyly, synostosis, hip dislocation, absence, or hypoplasia of fibula, and bowed tibia. In addition, other organs may be affected (long-bone hypoplasia; renal, venous, and vertebral anomalies). It has been shown that mutations in SMOC1 gene cause this disorder. UniProtKB/Swiss-Prot : 73 Ophthalmoacromelic syndrome: A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases.
More information from OMIM:
206920
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Human phenotypes related to Microphthalmia with Limb Anomalies:58 31 (show top 50) (show all 74)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:206920GenomeRNAi Phenotypes related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Microphthalmia with Limb Anomalies:40
Bone,
Eye,
Kidney,
Heart
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Articles related to Microphthalmia with Limb Anomalies:(show all 23)
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ClinVar genetic disease variations for Microphthalmia with Limb Anomalies:6
UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia with Limb Anomalies:73
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Search
GEO
for disease gene expression data for Microphthalmia with Limb Anomalies.
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Pathways related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:(show all 23)
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Cellular components related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:
Biological processes related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:(show all 32)
Molecular functions related to Microphthalmia with Limb Anomalies according to GeneCards Suite gene sharing:
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