Microphthalmia with Limb Anomalies (MLA)

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Disease Ontology 12 DOID:0060861 OMIM 56 206920 KEGG 36 H02134 MeSH 43 D008850 ICD10 32 Q87.2

ICD10 via Orphanet 33 Q87.2 UMLS via Orphanet 72 C0599973 Orphanet 58 ORPHA1106 MedGen 41 C0599973 SNOMED-CT via HPO 68 125617002 157265008 204099004 204108000 204878001 205131007 20696009 21558008 228156007 230745008 237836003 246800008 246802000 247578003 248409006 248568003 249310005 249769001 249773003 249808002 249820005 253251006 258211005 268251006 27173008 27272007 276617005 301348000 32113001 32958008 34048007 36440009 397932003 40700009 41729002 417558002 432788009 444896005 49601007 59576002 61142002 61152003 63567004 71358006 71485000 7183006 76976005 80281008 87979003 90145001 91138005 95515009 more

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

Clinical features from OMIM:

206920

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-3	9.47	RNASEL
2	Decreased viability	GR00221-A-4	9.47	RNASEL
3	Decreased viability	GR00249-S	9.47	IRF7 IRF9 MX1
4	Decreased viability	GR00301-A	9.47	RNASEL
5	Decreased viability	GR00386-A-1	9.47	IFNAR1 IFNB1 OASL STAT2
6	Decreased viability	GR00402-S-2	9.47	FNBP4 OAS1 OAS2 RNASEL

Search Clinical Trials , NIH Clinical Center for Microphthalmia with Limb Anomalies

Search GEO for disease gene expression data for Microphthalmia with Limb Anomalies.