MCID: OLV004
MIFTS: 32

Oliver-Mcfarlane Syndrome

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

Aliases & Classifications for Oliver-Mcfarlane Syndrome

MalaCards integrated aliases for Oliver-Mcfarlane Syndrome:

Name: Oliver-Mcfarlane Syndrome 57 59 75 40 73
Trichomegaly with Mental Retardation, Dwarfism and Pigmentary Degeneration of Retina 29 6
Omcs 57 75
Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of Retina 57
Congenital Trichomegaly, Pigmentary Retinal Degeneration, and Short Stature 75
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome 59
Trichomegaly, Retina Pigmentary Degeneration, Dwarfism 75
Trichomegaly Retina Pigmentary Degeneration Dwarfism 75
Long Eyelashes-Intellectual Disability Syndrome 59
Eyelashes, Long, with Mental Retardation 57
Long Eyelashes with Mental Retardation 75
Eyelashes Long, Mental Retardation 75

Characteristics:

Orphanet epidemiological data:

59
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
oliver-mcfarlane syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Oliver-Mcfarlane Syndrome

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...

Related Diseases for Oliver-Mcfarlane Syndrome

Diseases related to Oliver-Mcfarlane Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.2
2 laurence-moon syndrome 11.4
3 trichomegaly 10.5
4 retinitis 10.3
5 retinitis pigmentosa 10.2
6 leber congenital amaurosis 4 10.2
7 pituitary gland disease 10.2
8 choroideremia 10.1
9 infertility 10.1
10 retinal degeneration 10.1
11 hypopituitarism 10.1
12 choroideremia hypopituitarism 10.1
13 growth hormone deficiency 10.1
14 scoliosis, isolated 1 9.9
15 scoliosis 9.9
16 idiopathic scoliosis 9.9
17 vaginitis 9.9

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



Diseases related to Oliver-Mcfarlane Syndrome

Symptoms & Phenotypes for Oliver-Mcfarlane Syndrome

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus
pigmentary retinal degeneration
ring iris heterochromia

Endocrine:
growth hormone deficiency
hypogonadotropic hypogonadism

Growth:
low-birth-weight dwarfism

Skull:
bulging occipital and frontal bones

GU:
delayed puberty
cryptorchidism
underdeveloped penis

Neuro:
mental retardation
axonal peripheral neuropathy

Hair:
very long eyelashes and eyebrows
frontal alopecia

Muscle:
distal muscle weakness and wasting


Clinical features from OMIM:

275400

Human phenotypes related to Oliver-Mcfarlane Syndrome:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypogonadotrophic hypogonadism 32 HP:0000044
3 long eyelashes 32 HP:0000527
4 pigmentary retinopathy 32 HP:0000580
5 nystagmus 32 HP:0000639
6 delayed puberty 32 HP:0000823
7 growth hormone deficiency 32 HP:0000824
8 intellectual disability 32 HP:0001249
9 small for gestational age 32 HP:0001518
10 distal muscle weakness 32 HP:0002460
11 peripheral axonal neuropathy 32 HP:0003477
12 severe short stature 32 HP:0003510
13 distal amyotrophy 32 HP:0003693
14 long eyebrows 32 HP:0004523
15 central heterochromia 32 HP:0007818
16 hypoplasia of penis 32 HP:0008736

Drugs & Therapeutics for Oliver-Mcfarlane Syndrome

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

Genetic Tests for Oliver-Mcfarlane Syndrome

Genetic tests related to Oliver-Mcfarlane Syndrome:

# Genetic test Affiliating Genes
1 Trichomegaly with Mental Retardation, Dwarfism and Pigmentary Degeneration of Retina 29 PNPLA6

Anatomical Context for Oliver-Mcfarlane Syndrome

MalaCards organs/tissues related to Oliver-Mcfarlane Syndrome:

41
Retina, Pituitary, Thyroid, Bone, Skin

Publications for Oliver-Mcfarlane Syndrome

Articles related to Oliver-Mcfarlane Syndrome:

# Title Authors Year
1
Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome. ( 23621792 )
2014
2
Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation. ( 23952657 )
2013
3
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. ( 18978655 )
2008
4
Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). ( 16152639 )
2005
5
Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up. ( 12488276 )
2003
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? ( 12838570 )
2003
7
Ovarian stimulation in an infertile patient with growth hormone-deficient Oliver-Mcfarlane syndrome. ( 7868663 )
1994
8
Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case. ( 8343920 )
1993
9
Oliver McFarlane syndrome: a 25-year follow-up. ( 2816997 )
1989

Variations for Oliver-Mcfarlane Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Arg1090Gln VAR_073410
2 PNPLA6 p.Gly1120Arg VAR_073411
3 PNPLA6 p.Gly1167Ser VAR_073414
4 PNPLA6 p.Val1206Ala VAR_073415

ClinVar genetic disease variations for Oliver-Mcfarlane Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPLA6 NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs) duplication Pathogenic rs606231167 GRCh38 Chromosome 19, 7555728: 7555731
2 PNPLA6 NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs) duplication Pathogenic rs606231167 GRCh37 Chromosome 19, 7620614: 7620617
3 PNPLA6 PNPLA6, GLY1129ARG undetermined variant Pathogenic
4 PNPLA6 NM_006702.4(PNPLA6): c.3382G> A (p.Gly1128Ser) single nucleotide variant Pathogenic rs142422525 GRCh38 Chromosome 19, 7558948: 7558948
5 PNPLA6 NM_006702.4(PNPLA6): c.3382G> A (p.Gly1128Ser) single nucleotide variant Pathogenic rs142422525 GRCh37 Chromosome 19, 7623834: 7623834
6 PNPLA6 NM_006702.4(PNPLA6): c.3152G> A (p.Arg1051Gln) single nucleotide variant Pathogenic rs786201037 GRCh38 Chromosome 19, 7556710: 7556710
7 PNPLA6 NM_006702.4(PNPLA6): c.3152G> A (p.Arg1051Gln) single nucleotide variant Pathogenic rs786201037 GRCh37 Chromosome 19, 7621596: 7621596

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

Sources for Oliver-Mcfarlane Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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