Oliver-Mcfarlane Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Oliver-Mcfarlane Syndrome

MalaCards integrated aliases for Oliver-Mcfarlane Syndrome:

Name: Oliver-Mcfarlane Syndrome ⁵⁸ ⁷⁷ ⁶⁰ ⁷⁶ ⁴¹ ⁷⁴

Trichomegaly with Mental Retardation, Dwarfism and Pigmentary Degeneration of Retina ³⁰ ⁶

Omcs ⁵⁸ ⁷⁶

Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of Retina ⁵⁸

Congenital Trichomegaly, Pigmentary Retinal Degeneration, and Short Stature ⁷⁶

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome ⁶⁰

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism ⁷⁶

Trichomegaly Retina Pigmentary Degeneration Dwarfism ⁷⁶

Long Eyelashes-Intellectual Disability Syndrome ⁶⁰

Eyelashes, Long, with Mental Retardation ⁵⁸

Long Eyelashes with Mental Retardation ⁷⁶

Eyelashes Long, Mental Retardation ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

oliver-mcfarlane syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 275400

MeSH ⁴⁵ D002658 D004392 D006983 more

UMLS via Orphanet ⁷⁵ C1848745

Orphanet ⁶⁰ ORPHA3363

MedGen ⁴³ C1848745

UMLS ⁷⁴ C1848745

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Summaries for Oliver-Mcfarlane Syndrome

OMIM : ⁵⁸ 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 long eyelashes and sparse hair

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Oliver–McFarlane syndrome is a condition characterized by hypertrichosis of the eyebrows and... more...

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Related Diseases for Oliver-Mcfarlane Syndrome

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

(show all 16)

#	Related Disease	Score
1	trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina	12.4
2	laurence-moon syndrome	11.6
3	trichomegaly	10.6
4	retinitis pigmentosa	10.4
5	leber congenital amaurosis 4	10.4
6	retinitis	10.4
7	pituitary gland disease	10.4
8	choroideremia	10.2
9	retinal degeneration	10.2
10	hypopituitarism	10.2
11	choroideremia hypopituitarism	10.2
12	scoliosis, isolated 1	10.2
13	scoliosis	10.2
14	idiopathic scoliosis	10.2
15	mitral valve stenosis	10.1
16	bowenoid papulosis	10.1

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

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Symptoms & Phenotypes for Oliver-Mcfarlane Syndrome

Human phenotypes related to Oliver-Mcfarlane Syndrome:

³³ (show all 19)

#	Description	HPO Frequency	HPO Source Accession
1	long eyelashes ³³	very rare (1%)	HP:0000527
2	sparse hair ³³	very rare (1%)	HP:0008070
3	pigmentary retinopathy ³³	very rare (1%)	HP:0000580
4	growth hormone deficiency ³³	very rare (1%)	HP:0000824
5	nystagmus ³³		HP:0000639
6	intellectual disability ³³		HP:0001249
7	delayed puberty ³³		HP:0000823
8	cryptorchidism ³³		HP:0000028
9	alopecia ³³		HP:0001596
10	hypogonadotrophic hypogonadism ³³		HP:0000044
11	hypoplasia of penis ³³		HP:0008736
12	severe short stature ³³		HP:0003510
13	peripheral axonal neuropathy ³³		HP:0003477
14	distal muscle weakness ³³		HP:0002460
15	central heterochromia ³³		HP:0007818
16	distal amyotrophy ³³		HP:0003693
17	small for gestational age ³³		HP:0001518
18	retinal degeneration ³³		HP:0000546
19	long eyebrows ³³		HP:0004523

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

G U:
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

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Drugs & Therapeutics for Oliver-Mcfarlane Syndrome

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

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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 ³⁰	PNPLA6

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Anatomical Context for Oliver-Mcfarlane Syndrome

MalaCards organs/tissues related to Oliver-Mcfarlane Syndrome:

⁴²

Retina, Pituitary, Thyroid, Skin, Bone, Eye

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Publications for Oliver-Mcfarlane Syndrome

Articles related to Oliver-Mcfarlane Syndrome:

(show all 17)

#	Title	Authors	Year
1	A new PNPLA6 mutation presenting as Oliver McFarlane syndrome. ( 30097146 )	Patsi O...Diederich NJ	2018
2	Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. ( 23952657 )	Sheng X...Liu Y	2015
3	Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. ( 25480986 )	Hufnagel RB...Ahmed ZM	2015
4	Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome. ( 23621792 )	Pedroso JL...Barsottini OG	2014
5	A Geobacter sulfurreducens strain expressing pseudomonas aeruginosa type IV pili localizes OmcS on pili but is deficient in Fe(III) oxide reduction and current production. ( 24296506 )	Liu X...Vargas M	2014
6	Biochemical characterization of purified OmcS, a c-type cytochrome required for insoluble Fe(III) reduction in Geobacter sulfurreducens. ( 21236241 )	Qian X...Lovley DR	2011
7	Alignment of the c-type cytochrome OmcS along pili of Geobacter sulfurreducens. ( 20400557 )	Leang C...Lovley DR	2010
8	Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. ( 18978655 )	Sonmez S...Splitt M	2008
9	Group 4 transition-metal atom reactions with CS2 and OCS: infrared spectra and density functional calculations of SMCS, SM-(eta2-CS), SMCO, and OMCS in solid argon. ( 17125292 )	Baker AB...Andrews L	2006
10	Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). ( 16152639 )	Haimi M...Gershoni-Baruch R	2005
11	Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up. ( 12488276 )	Haritoglou C...Boergen KP	2003
12	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 )	Kondoh T...Shirahata A	2003
13	Ovarian stimulation in an infertile patient with growth hormone-deficient Oliver-Mcfarlane syndrome. ( 7868663 )	Shaker AG...Coutts JR	1994
14	Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case. ( 8343920 )	Chang TS...Willis NR	1993
15	[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. ( 8053762 )	Chalvon-Demersay A...Labrune B	1993
16	Oliver McFarlane syndrome: a 25-year follow-up. ( 2816997 )	Sampson JR...Cant JS	1989
17	Congenital trichomegaly, pigmentary retinal degeneration, and short stature. ( 3963113 )	Patton MA...Baraitser M	1986

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Genes for Oliver-Mcfarlane Syndrome

Genes related to Oliver-Mcfarlane Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	1677.91	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25480986 25299038 3963113 (more) 8053762

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Variations for Oliver-Mcfarlane Syndrome

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

⁷⁶

#	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

ClinVar genetic disease variations for Oliver-Mcfarlane Syndrome:

⁶ (show all 11)

#	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
8	PNPLA6	NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr)	single nucleotide variant	Uncertain significance	rs377449787	GRCh37	Chromosome 19, 7621340: 7621340
9	PNPLA6	NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr)	single nucleotide variant	Uncertain significance	rs377449787	GRCh38	Chromosome 19, 7556454: 7556454
10	PNPLA6	NM_001166111.1(PNPLA6): c.1519G> A (p.Ala507Thr)	single nucleotide variant	Uncertain significance	rs375397452	GRCh37	Chromosome 19, 7607776: 7607776
11	PNPLA6	NM_001166111.1(PNPLA6): c.1519G> A (p.Ala507Thr)	single nucleotide variant	Uncertain significance	rs375397452	GRCh38	Chromosome 19, 7542890: 7542890

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Expression for Oliver-Mcfarlane Syndrome

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

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Pathways for Oliver-Mcfarlane Syndrome

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GO Terms for Oliver-Mcfarlane Syndrome

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Oliver-Mcfarlane Syndrome (OMCS)

Aliases & Classifications for Oliver-Mcfarlane Syndrome

MalaCards integrated aliases for Oliver-Mcfarlane Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Oliver-Mcfarlane Syndrome

Related Diseases for Oliver-Mcfarlane Syndrome

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

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

Symptoms & Phenotypes for Oliver-Mcfarlane Syndrome

Human phenotypes related to Oliver-Mcfarlane Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Oliver-Mcfarlane Syndrome

Genetic Tests for Oliver-Mcfarlane Syndrome

Genetic tests related to Oliver-Mcfarlane Syndrome:

Anatomical Context for Oliver-Mcfarlane Syndrome

MalaCards organs/tissues related to Oliver-Mcfarlane Syndrome:

Publications for Oliver-Mcfarlane Syndrome

Articles related to Oliver-Mcfarlane Syndrome:

Genes for Oliver-Mcfarlane Syndrome

Genes related to Oliver-Mcfarlane Syndrome (1 elite genes):

Variations for Oliver-Mcfarlane Syndrome

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

ClinVar genetic disease variations for Oliver-Mcfarlane Syndrome:

Expression for Oliver-Mcfarlane Syndrome

Pathways for Oliver-Mcfarlane Syndrome

GO Terms for Oliver-Mcfarlane Syndrome

Sources for Oliver-Mcfarlane Syndrome