OMCS
MCID: OLV004
MIFTS: 43

Oliver-Mcfarlane Syndrome (OMCS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oliver-Mcfarlane Syndrome

MalaCards integrated aliases for Oliver-Mcfarlane Syndrome:

Name: Oliver-Mcfarlane Syndrome 56 12 74 58 73 43 15 39 71
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome 12 58 29 6
Omcs 56 12 73
Long Eyelashes-Intellectual Disability Syndrome 12 58
Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 52
Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of Retina 56
Congenital Trichomegaly, Pigmentary Retinal Degeneration, and Short Stature 73
Trichomegaly, Retina Pigmentary Degeneration, Dwarfism 73
Trichomegaly Retina Pigmentary Degeneration Dwarfism 73
Eyelashes, Long with Intellectual Disability 52
Eyelashes, Long, with Mental Retardation 56
Long Eyelashes with Mental Retardation 73
Eyelashes Long, Mental Retardation 73
Eyelashes Long Mental Retardation 12
Oliver Mcfarlane Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
overlap with laurence-moon syndrome


HPO:

31
oliver-mcfarlane syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Oliver-Mcfarlane Syndrome

OMIM : 56 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-retina pigmentary degeneration-dwarfism syndrome, is related to trichomegaly and laurence-moon syndrome. An important gene associated with Oliver-Mcfarlane Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). The drugs Ibuprofen and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include retina, pituitary and thyroid, 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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3363 Definition Trichomegaly-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...

Related Diseases for Oliver-Mcfarlane Syndrome

Graphical network of the top 20 diseases related to Oliver-Mcfarlane Syndrome:



Diseases related to Oliver-Mcfarlane Syndrome

Symptoms & Phenotypes for Oliver-Mcfarlane Syndrome

Human phenotypes related to Oliver-Mcfarlane Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 long eyelashes 31 very rare (1%) HP:0000527
2 sparse hair 31 very rare (1%) HP:0008070
3 pigmentary retinopathy 31 very rare (1%) HP:0000580
4 growth hormone deficiency 31 very rare (1%) HP:0000824
5 intellectual disability 31 HP:0001249
6 delayed puberty 31 HP:0000823
7 nystagmus 31 HP:0000639
8 cryptorchidism 31 HP:0000028
9 alopecia 31 HP:0001596
10 hypoplasia of penis 31 HP:0008736
11 distal amyotrophy 31 HP:0003693
12 severe short stature 31 HP:0003510
13 central heterochromia 31 HP:0007818
14 small for gestational age 31 HP:0001518
15 retinal degeneration 31 HP:0000546
16 distal muscle weakness 31 HP:0002460
17 peripheral axonal neuropathy 31 HP:0003477
18 long eyebrows 31 HP:0004523
19 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
nystagmus
synophrys
optic disc pallor
pigmentary retinal degeneration
more
Endocrine Features:
hypothyroidism
growth hormone deficiency
hypogonadotropic hypogonadism
low igf1
flat lhrh profile

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
hypogonadism
hypoplastic scrotum
no secondary sex characteristics

Neurologic Peripheral Nervous System:
areflexia
absent sensory waveforms seen on nerve conduction study

Chest Breasts:
gynecomastia

Growth Weight:
low birth weight
obesity (later in life, in some patients)

Growth Height:
short stature

Growth Other:
failure to thrive

Skin Nails Hair Hair:
alopecia
trichomegaly (long eyelashes)
blond scalp hair

Head And Neck Face:
pointed chin
triangular face
prominent

Neurologic Central Nervous System:
gait ataxia
intellectual disability (in some patients)
small anterior pituitary
cerebellar cortical atrophy seen on mri
cerebellar cortical degeneration with loss of purkinje and granule cells

Clinical features from OMIM:

275400

Drugs & Therapeutics for Oliver-Mcfarlane Syndrome

Drugs for Oliver-Mcfarlane Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
2 Analgesics, Non-Narcotic Phase 2, Phase 3
3 Analgesics Phase 2, Phase 3
4 Cyclooxygenase Inhibitors Phase 2, Phase 3
5 Anti-Inflammatory Agents Phase 2, Phase 3
6 Antirheumatic Agents Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Topical Non-Steroidal Anti- Inflammatory to Reduce Pain in Oral Lichen Planus and Oral Lichenoid Lesions. Completed NCT03509675 Phase 2, Phase 3 Ibuprofen suspension 5mg/100ml;Placebos

Search NIH Clinical Center for Oliver-Mcfarlane Syndrome

Cochrane evidence based reviews: oliver-mcfarlane syndrome

Genetic Tests for Oliver-Mcfarlane Syndrome

Genetic tests related to Oliver-Mcfarlane Syndrome:

# Genetic test Affiliating Genes
1 Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome 29 PNPLA6

Anatomical Context for Oliver-Mcfarlane Syndrome

MalaCards organs/tissues related to Oliver-Mcfarlane Syndrome:

40
Retina, Pituitary, Thyroid, Eye, Skin

Publications for Oliver-Mcfarlane Syndrome

Articles related to Oliver-Mcfarlane Syndrome:

(show all 24)
# Title Authors PMID Year
1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 61 56 6
25480986 2015
2
Congenital trichomegaly, pigmentary retinal degeneration, and short stature. 6 56
3963113 1986
3
PNPLA6-Related Disorders 6 61
25299038 2014
4
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. 56 61
18978655 2008
5
Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). 61 56
16152639 2005
6
Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, or a new clinical entity? 56 61
12838570 2003
7
Oliver McFarlane syndrome: a 25-year follow-up. 61 56
2816997 1989
8
[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. 6
8053762 1993
9
[The long-eyelash syndrome (trichomegaly syndrome, Oliver-McFarlane)]. 56
6715173 1984
10
The syndrome of trichomegaly, tapetoretinal degeneration and growth disturbances. 56
1165905 1975
11
Trichomegaly, pigmentary degeneration of the retina, and growth retardation. A new syndrome originating in utero. 56
5550742 1971
12
CONGENITAL TRICHOMEGALY: WITH ASSOCIATED PIGMENTARY DEGENERATION OF THE RETINA, DWARFISM, AND MENTAL RETARDATION. 56
14318490 1965
13
A new PNPLA6 mutation presenting as Oliver McFarlane syndrome. 61
30097146 2018
14
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. 61
29248984 2018
15
Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus. 61
28839394 2017
16
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. 61
23952657 2015
17
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. 61
25574898 2015
18
Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. 61
26671664 2015
19
Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome. 61
23621792 2014
20
Trichomegaly in a 3-year-old girl with alopecia areata. 61
19419469 2009
21
[Oliver-McFarlane syndrome]. 61
17022591 2006
22
Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up. 61
12488276 2003
23
Ovarian stimulation in an infertile patient with growth hormone-deficient Oliver-Mcfarlane syndrome. 61
7868663 1994
24
Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case. 61
8343920 1993

Variations for Oliver-Mcfarlane Syndrome

ClinVar genetic disease variations for Oliver-Mcfarlane Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA6 NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)duplication Pathogenic 6607 rs606231167 19:7620610-7620611 19:7555724-7555725
2 PNPLA6 NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)SNV Pathogenic 183693 rs786201037 19:7621596-7621596 19:7556710-7556710
3 PNPLA6 PNPLA6, GLY1129ARGundetermined variant Pathogenic 183691
4 PNPLA6 NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)SNV Pathogenic 183692 rs142422525 19:7623834-7623834 19:7558948-7558948
5 PNPLA6 NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)SNV Uncertain significance 240694 rs377449787 19:7621340-7621340 19:7556454-7556454
6 PNPLA6 NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr)SNV Uncertain significance 547855 rs375397452 19:7607776-7607776 19:7542890-7542890

UniProtKB/Swiss-Prot genetic disease variations for Oliver-Mcfarlane Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Arg1099Gln VAR_073410 rs786201037
2 PNPLA6 p.Gly1129Arg VAR_073411 rs773955314
3 PNPLA6 p.Gly1176Ser VAR_073414 rs142422525
4 PNPLA6 p.Val1215Ala VAR_073415 rs121107928

Expression for Oliver-Mcfarlane Syndrome

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

Pathways for Oliver-Mcfarlane Syndrome

GO Terms for Oliver-Mcfarlane Syndrome

Cellular components related to Oliver-Mcfarlane Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Holliday junction resolvase complex GO:0048476 8.62 EME2 EME1

Biological processes related to Oliver-Mcfarlane Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 replication fork processing GO:0031297 9.26 EME2 EME1
2 resolution of meiotic recombination intermediates GO:0000712 9.16 EME2 EME1
3 intra-S DNA damage checkpoint GO:0031573 8.96 EME2 EME1
4 retina morphogenesis in camera-type eye GO:0060042 8.62 RPE65 DLL1

Sources for Oliver-Mcfarlane Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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