Oliver-Mcfarlane Syndrome (OMCS)

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Disease Ontology 12 DOID:0111271 OMIM® 57 275400 MeSH 44 C536554 D002658 D004392 D006983 D058499 more SNOMED-CT 67 719944006 UMLS via Orphanet 72 C1848745

Orphanet 58 ORPHA3363 MedGen 41 C1848745 SNOMED-CT via HPO 68 123526007 128208007 204878001 2109003 228156007 237836003 237837007 247578003 249942005 258211005 267258002 276610007 278040002 28835009 33927004 34911001 400003000 422065006 53602002 563001 56317004 56558005 60703000 91138005 95695004 more UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Oliver-Mcfarlane Syndrome, also known as trichomegaly-retina pigmentary degeneration-dwarfism syndrome, is related to laurence-moon syndrome and trichomegaly. An important gene associated with Oliver-Mcfarlane Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include retina, pituitary and eye, and related phenotypes are long eyelashes and sparse hair

Disease Ontology : ¹² A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3363DefinitionTrichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Oliver-McFarlane syndrome is a condition characterized by hypertrichosis of the eyebrows and... more...

Clinical features from OMIM®:

275400 (Updated 05-Mar-2021)

Search NIH Clinical Center for Oliver-Mcfarlane Syndrome

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