Oliver-Mcfarlane Syndrome

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OMIM 57 275400 Orphanet 59 ORPHA3363 UMLS via Orphanet 74 C1848745 MedGen 42 C1848745

MeSH 44 D002658 D004392 D006983 D058499 more SNOMED-CT via HPO 69 258211005 204878001 33927004 28835009 563001 123526007 400003000 2109003 228156007 247578003 91138005 267258002 276610007 249942005 128208007 60703000 237836003 237837007 422065006 34911001 more UMLS 73 C1848745

OMIM : ⁵⁷ Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH; 139250), gonadotropins (see 118860), and thyroid-stimulating hormone (TSH; see 118850). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015). Laurence-Moon syndrome (245800) is an allelic disorder with overlapping features. (275400)

MalaCards based summary : Oliver-Mcfarlane Syndrome, also known as trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina, is related to trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina and laurence-moon syndrome. An important gene associated with Oliver-Mcfarlane Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). Affiliated tissues include retina, pituitary and thyroid, and related phenotypes are cryptorchidism and hypogonadotrophic hypogonadism

UniProtKB/Swiss-Prot : ⁷⁵ Oliver-McFarlane syndrome: A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy.

Wikipedia : ⁷⁶ Oliver–McFarlane syndrome is a condition characterized by hypertrichosis of the eyebrows and... more...

Clinical features from OMIM:

275400

Search Clinical Trials , NIH Clinical Center for Oliver-Mcfarlane Syndrome

Search GEO for disease gene expression data for Oliver-Mcfarlane Syndrome.