Microphthalmia with Limb Anomalies

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OMIM 57 206920 Disease Ontology 12 DOID:0060861 ICD10 33 Q87.2 Orphanet 59 ORPHA1106 ICD10 via Orphanet 34 Q87.2

UMLS via Orphanet 74 C0599973 MedGen 42 C0599973 MeSH 44 D008850 SNOMED-CT via HPO 69 258211005 204878001 41729002 63567004 87979003 80281008 27272007 301348000 230745008 32958008 253251006 95515009 21558008 248568003 246800008 204099004 7183006 204108000 61142002 76976005 248409006 205131007 71358006 228156007 247578003 91138005 36440009 432788009 276617005 444896005 59576002 71485000 49601007 249808002 397932003 32113001 249820005 90145001 61152003 157265008 125617002 417558002 249310005 237836003 20696009 249769001 268251006 34048007 27173008 40700009 249773003 246802000 more

UniProtKB/Swiss-Prot : ⁷⁵ 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.

MalaCards based summary : Microphthalmia with Limb Anomalies, also known as waardenburg anophthalmia syndrome, is related to osteoarthritis and ocular albinism. 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 Cytokine Signaling in Immune system. Affiliated tissues include eye, bone and kidney, and related phenotypes are frontal bossing and finger syndactyly

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).

Disease Ontology : ¹² A an autosomal recessive disease 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.

Description from OMIM: 206920

Clinical features from OMIM:

206920

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

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