OHS
MCID: OCC006
MIFTS: 52

Occipital Horn Syndrome (OHS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Occipital Horn Syndrome

MalaCards integrated aliases for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 57 76 53 59 75 37 13 55 40
Ohs 57 53 75
Cutis Laxa, X-Linked 29 6
Cutis Laxa X-Linked 53 75
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly 57
Ehlers-Danlos Syndrome Occipital Horn Type 75
Cutis Laxa, X-Linked, Formerly 57
Ehlers-Danlos Syndrome Type Ix 59
Ehlers-Danlos Syndrome Type 9 59
X-Linked Cutis Laxa 59
Eds Ix, Formerly 57
Eds9, Formerly 57
Eds Ix 59
Eds9 75

Characteristics:

Orphanet epidemiological data:

59
occipital horn syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
occipital horn syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Occipital Horn Syndrome

NIH Rare Diseases : 53 Occipital horn syndrome(OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints.  Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body.  Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.

MalaCards based summary : Occipital Horn Syndrome, also known as ohs, is related to menkes disease and obesity-hypoventilation syndrome. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase Copper Transporting Alpha). The drugs Copper and Histidine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are pectus excavatum and genu valgum

OMIM : 57 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). (304150)

UniProtKB/Swiss-Prot : 75 Occipital horn syndrome: An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga.

Wikipedia : 76 Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked... more...

Related Diseases for Occipital Horn Syndrome

Diseases related to Occipital Horn Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 menkes disease 31.5 ATP7A DBH LOX
2 obesity-hypoventilation syndrome 11.6
3 bombay phenotype 11.3
4 overhydrated hereditary stomatocytosis 11.3
5 exostoses, multiple, type i 11.2
6 cutis laxa 11.2
7 hermansky-pudlak syndrome 1 11.0
8 vitamin d hydroxylation-deficient rickets, type 1a 11.0
9 hypophosphatemic rickets, x-linked dominant 11.0
10 cardiogenic shock 11.0
11 hypertrophic olivary degeneration 10.2
12 renal osteodystrophy 10.2
13 rickets 10.1
14 hyperparathyroidism 10.1
15 secondary hyperparathyroidism of renal origin 10.0
16 horns in sheep 10.0
17 diabetes mellitus 10.0
18 leukemia 10.0
19 bone disease 10.0
20 sarcoma 10.0
21 multiple sclerosis 10.0
22 prostate cancer 10.0
23 rheumatoid arthritis 10.0
24 late-onset retinal degeneration 10.0
25 arthritis 10.0
26 degos 'en cocarde' erythrokeratoderma 10.0
27 polymyositis 10.0
28 hereditary hypophosphatemic rickets 10.0
29 ehlers-danlos syndrome 9.9
30 muscular atrophy 9.9
31 diabetes mellitus, noninsulin-dependent 9.9
32 osteoporosis 9.9
33 spondylocarpotarsal synostosis syndrome 9.9
34 osteitis fibrosa 9.9
35 uremia 9.9
36 streptococcal group a invasive disease 9.9
37 isolated optic neuritis 9.9
38 colorectal cancer 9.9
39 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
40 kaposi sarcoma 9.9
41 insulin-like growth factor i 9.9
42 hypophosphatemic rickets, x-linked recessive 9.9
43 asthma 9.9
44 ovarian hyperstimulation syndrome 9.9
45 colorectal adenoma 9.9
46 pontocerebellar hypoplasia 9.9
47 osteomalacia 9.9
48 hypoparathyroidism 9.9
49 squamous cell carcinoma 9.9
50 endometrial adenocarcinoma 9.9

Graphical network of the top 20 diseases related to Occipital Horn Syndrome:



Diseases related to Occipital Horn Syndrome

Symptoms & Phenotypes for Occipital Horn Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
short, broad clavicles
short, broad ribs

Skeletal Spine:
kyphosis
mild platyspondyly

Skin Nails Hair Hair:
coarse hair

Head And Neck Face:
long philtrum
high forehead
long, thin face

Skeletal Pelvis:
coxa valga
pelvic exostoses

Genitourinary Kidneys:
hydronephrosis

Cardiovascular Vascular:
orthostatic hypotension
elongated, tortuous carotid arteries
intracranial arterial narrowing

Skin Nails Hair Skin:
soft skin
easy bruisability
loose, redundant skin
mildly extensible skin

Head And Neck Mouth:
high-arched palate

Neoplasia:
bladder carcinoma

Head And Neck Head:
persistent, open anterior fontanel

Neurologic Central Nervous System:
low-normal iq

Skeletal Limbs:
genu valgum
limited elbow extension
limited knee extension
short humeri

Skeletal Feet:
pes planus

Skeletal:
osteoporosis
joint laxity

Chest External Features:
narrow chest
narrow shoulders

Abdomen Gastrointestinal:
chronic diarrhea
hiatal hernia

Skeletal Hands:
capitate-hamate fusion

Head And Neck Neck:
long neck

Genitourinary Ureters:
ureteral obstruction

Genitourinary Bladder:
bladder diverticula
bladder rupture

Head And Neck Nose:
hooked nose

Skeletal Skull:
occipital horn exostoses

Laboratory Abnormalities:
decreased serum copper
decreased ceruloplasmin


Clinical features from OMIM:

304150

Human phenotypes related to Occipital Horn Syndrome:

59 32 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
7 hypothermia 59 32 frequent (33%) Frequent (79-30%) HP:0002045
8 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
14 synostosis of joints 59 32 frequent (33%) Frequent (79-30%) HP:0100240
15 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
16 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
17 coarse hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002208
18 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
19 rickets 59 32 frequent (33%) Frequent (79-30%) HP:0002748
20 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
21 hepatitis 59 32 frequent (33%) Frequent (79-30%) HP:0012115
22 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
23 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
24 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
25 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
26 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673
27 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
28 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
29 large iliac wings 59 32 occasional (7.5%) Occasional (29-5%) HP:0008818
30 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
31 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
32 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
33 gastroparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002578
34 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
35 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
36 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
37 osteomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0002749
38 esophagitis 59 32 frequent (33%) Frequent (79-30%) HP:0100633
39 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
40 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
41 bladder diverticulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000015
42 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
43 down-sloping shoulders 59 32 occasional (7.5%) Occasional (29-5%) HP:0200021
44 keloids 59 32 frequent (33%) Frequent (79-30%) HP:0010562
45 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
46 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
47 venous insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0005293
48 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
49 coxa vara 59 32 occasional (7.5%) Occasional (29-5%) HP:0002812
50 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974

MGI Mouse Phenotypes related to Occipital Horn Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.13 ATP7A DBH LOX
2 integument MP:0010771 8.8 ATP7A DBH LOX

Drugs & Therapeutics for Occipital Horn Syndrome

Drugs for Occipital Horn Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved, Investigational Phase 3 7440-50-8 27099
2
Histidine Approved, Nutraceutical Phase 3 71-00-1 6274
3 Micronutrients Phase 3
4 Trace Elements Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Active, not recruiting NCT00811785 Phase 3 Copper Histidine

Search NIH Clinical Center for Occipital Horn Syndrome

Genetic Tests for Occipital Horn Syndrome

Genetic tests related to Occipital Horn Syndrome:

# Genetic test Affiliating Genes
1 Cutis Laxa, X-Linked 29 ATP7A

Anatomical Context for Occipital Horn Syndrome

MalaCards organs/tissues related to Occipital Horn Syndrome:

41
Bone, Skin, Brain, Kidney, Liver, Prostate, Thyroid

Publications for Occipital Horn Syndrome

Articles related to Occipital Horn Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
A Qualitative Study of HR/OHS Stress Interventions in Australian Universities. ( 29315278 )
2018
2
Study on the Influence of Government Intervention on the Occupational Health and Safety (OHS) Services of Small- and Medium-Sized Enterprises (SMEs). ( 30498757 )
2018
3
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype. ( 28761814 )
2017
4
The relationships between OHS prevention costs, safety performance, employee satisfaction and accident costs. ( 27667202 )
2017
5
NIV for OHS without severe OSAS: is it worth it? ( 27507900 )
2016
6
'Sometimes your safety goes a bit by the wayside' … exploring occupational health and safety (OHS) with student nurses. ( 27525567 )
2016
7
APHA OHS: 100 Years of Activism--Call to Action. ( 26067776 )
2015
8
Letter to the Editor: Salute to the Archivists and OHS Co-Founders. ( 26638338 )
2015
9
Rebuttal: 'Obesity hypoventilation syndrome (OHS): does the current definition need revisiting?'. ( 24858324 )
2014
10
APHA OHS AT 100--a look to the future. ( 25261020 )
2014
11
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. ( 23281160 )
2013
12
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. ( 24002164 )
2013
13
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome. ( 22575542 )
2012
14
Addressing the cultural complexity of OHS in the Australian mining industry. ( 22317406 )
2012
15
Occipital horn syndrome in a woman: skeletal radiological findings. ( 21553336 )
2011
16
Measures of hip function and symptoms: Harris Hip Score (HHS), Hip Disability and Osteoarthritis Outcome Score (HOOS), Oxford Hip Score (OHS), Lequesne Index of Severity for Osteoarthritis of the Hip (LISOH), and American Academy of Orthopedic Surgeons (AAOS) Hip and Knee Questionnaire. ( 22588745 )
2011
17
Genuine worker participation-an indispensable key to effective global OHS. ( 19778830 )
2009
18
OHS students: reaching a decision about hosting placements. ( 18300107 )
2008
19
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. ( 17496194 )
2007
20
Evidence-based practice guidelines in OHS: are they agree-able? ( 17284870 )
2007
21
Too much has changed for old data to help today's OHS practitioner. ( 17461014 )
2007
22
The reproducibility of the Denplan Oral Health Score (OHS) in general dental practitioners. ( 17615826 )
2007
23
Organisational restructuring/downsizing, OHS regulation and worker health and wellbeing. ( 17662403 )
2007
24
Functional copper transport explains neurologic sparing in occipital horn syndrome. ( 17108763 )
2006
25
Exposure assessment in SMES: a low-cost approach to bring OHS services to small-scale enterprises. ( 16610529 )
2006
26
Verteporfin therapy for CNV secondary to OHS. ( 17157140 )
2006
27
New USDA animal identification system; OHS partnership continues. ( 15685182 )
2005
28
Occupational light-vehicle use and OHS legislative frameworks: an Australian example. ( 15875893 )
2005
29
Synthesis and recommendations of the economic evaluation of OHS interventions at the company level conference. ( 16038935 )
2005
30
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family. ( 15238919 )
2004
31
Concerted interaction between conjugated double bond CHs and multiple OHs in polyene macrolide antibiotic chainin: weak =C-H...O interactions responsible for intrinsic molecular assembly. ( 12877506 )
2003
32
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. ( 12537648 )
2002
33
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. ( 11936860 )
2001
34
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. ( 11431706 )
2001
35
Neuropathology of occipital horn syndrome. ( 11669352 )
2001
36
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. ( 11241493 )
2001
37
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. ( 10739752 )
2000
38
Intracranial and extracranial MR angiography in occipital horn syndrome. ( 11044951 )
2000
39
OHS management systems: a survey. ( 10868376 )
2000
40
Getting more from your OHS software system. ( 11056906 )
2000
41
Integrating OHS, environmental, and quality management standards. ( 11797822 )
2000
42
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. ( 9880610 )
1999
43
Occipital Horn syndrome in a 2-year-old boy. ( 10457850 )
1999
44
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. ( 9467005 )
1998
45
Metabolic and molecular bases of Menkes disease and occipital horn syndrome. ( 10463276 )
1998
46
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. ( 9246006 )
1997
47
Small Business Owners' Knowledge of Their Occupational Health and Safety (OHS) Legislative Responsibilities. ( 10602595 )
1997
48
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. ( 8923001 )
1996
49
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. ( 7887410 )
1995
50
Menkes disease and occipital horn syndrome. ( 7583733 )
1995

Variations for Occipital Horn Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Occipital Horn Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 ATP7A p.Ser637Leu VAR_009999 rs151340631
2 ATP7A p.Asn1304Ser VAR_063883

ClinVar genetic disease variations for Occipital Horn Syndrome:

6 (show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7A ATP7A, IVSAS, 2642A-G, -2 single nucleotide variant Pathogenic
2 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh37 Chromosome X, 77266713: 77266713
3 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh38 Chromosome X, 78011216: 78011216
4 ATP7A ATP7A, 8-BP DEL, NT1552 deletion Pathogenic
5 ATP7A NM_000052.6: c.4352delG deletion Pathogenic
6 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh37 Chromosome X, 77298192: 77298192
7 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh38 Chromosome X, 78042694: 78042694
8 ATP7A NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys) single nucleotide variant Benign rs61742278 GRCh37 Chromosome X, 77264714: 77264714
9 ATP7A NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys) single nucleotide variant Benign rs61742278 GRCh38 Chromosome X, 78009217: 78009217
10 ATP7A NM_000052.6(ATP7A): c.610+8G> A single nucleotide variant Benign rs144616937 GRCh37 Chromosome X, 77244235: 77244235
11 ATP7A NM_000052.6(ATP7A): c.610+8G> A single nucleotide variant Benign rs144616937 GRCh38 Chromosome X, 77988739: 77988739
12 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh37 Chromosome X, 77301954: 77301954
13 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh38 Chromosome X, 78046457: 78046457
14 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh37 Chromosome X, 77267069: 77267069
15 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh38 Chromosome X, 78011572: 78011572
16 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh37 Chromosome X, 77244182: 77244182
17 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh38 Chromosome X, 77988686: 77988686
18 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh37 Chromosome X, 77254154: 77254154
19 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh38 Chromosome X, 77998657: 77998657
20 ATP7A NM_000052.6(ATP7A): c.1707+6T> A single nucleotide variant Uncertain significance rs797045334 GRCh38 Chromosome X, 78003242: 78003242
21 ATP7A NM_000052.6(ATP7A): c.1707+6T> A single nucleotide variant Uncertain significance rs797045334 GRCh37 Chromosome X, 77258739: 77258739
22 ATP7A NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala) single nucleotide variant Benign/Likely benign rs201788154 GRCh37 Chromosome X, 77270204: 77270204
23 ATP7A NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala) single nucleotide variant Benign/Likely benign rs201788154 GRCh38 Chromosome X, 78014707: 78014707
24 ATP7A NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138958687 GRCh37 Chromosome X, 77276563: 77276563
25 ATP7A NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138958687 GRCh38 Chromosome X, 78021066: 78021066
26 ATP7A NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797045365 GRCh38 Chromosome X, 78029335: 78029335
27 ATP7A NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797045365 GRCh37 Chromosome X, 77284832: 77284832
28 ATP7A NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val) single nucleotide variant Benign/Likely benign rs139781067 GRCh38 Chromosome X, 78042714: 78042714
29 ATP7A NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val) single nucleotide variant Benign/Likely benign rs139781067 GRCh37 Chromosome X, 77298212: 77298212
30 ATP7A NM_000052.6(ATP7A): c.3863A> G (p.Gln1288Arg) single nucleotide variant Uncertain significance rs375788705 GRCh37 Chromosome X, 77298144: 77298144
31 ATP7A NM_000052.6(ATP7A): c.3863A> G (p.Gln1288Arg) single nucleotide variant Uncertain significance rs375788705 GRCh38 Chromosome X, 78042646: 78042646
32 ATP7A NM_000052.6(ATP7A): c.922A> G (p.Ile308Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782351352 GRCh38 Chromosome X, 77989544: 77989544
33 ATP7A NM_000052.6(ATP7A): c.922A> G (p.Ile308Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782351352 GRCh37 Chromosome X, 77245040: 77245040
34 ATP7A NM_000052.6(ATP7A): c.2531G> A (p.Arg844His) single nucleotide variant Conflicting interpretations of pathogenicity rs367775730 GRCh38 Chromosome X, 78015786: 78015786
35 ATP7A NM_000052.6(ATP7A): c.2531G> A (p.Arg844His) single nucleotide variant Conflicting interpretations of pathogenicity rs367775730 GRCh37 Chromosome X, 77271283: 77271283
36 ATP7A NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372489000 GRCh38 Chromosome X, 78042666: 78042666
37 ATP7A NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372489000 GRCh37 Chromosome X, 77298164: 77298164
38 ATP7A NM_000052.6(ATP7A): c.3894G> C (p.Met1298Ile) single nucleotide variant Uncertain significance rs782499160 GRCh37 Chromosome X, 77298175: 77298175
39 ATP7A NM_000052.6(ATP7A): c.3894G> C (p.Met1298Ile) single nucleotide variant Uncertain significance rs782499160 GRCh38 Chromosome X, 78042677: 78042677
40 ATP7A NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143214563 GRCh37 Chromosome X, 77266954: 77266954
41 ATP7A NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143214563 GRCh38 Chromosome X, 78011457: 78011457
42 ATP7A NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs146651049 GRCh37 Chromosome X, 77298815: 77298815
43 ATP7A NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs146651049 GRCh38 Chromosome X, 78043317: 78043317
44 ATP7A NM_000052.6(ATP7A): c.327G> A (p.Lys109=) single nucleotide variant Benign rs61747968 GRCh37 Chromosome X, 77243944: 77243944
45 ATP7A NM_000052.6(ATP7A): c.327G> A (p.Lys109=) single nucleotide variant Benign rs61747968 GRCh38 Chromosome X, 77988448: 77988448
46 ATP7A NM_000052.6(ATP7A): c.278C> T (p.Thr93Met) single nucleotide variant Uncertain significance rs539177302 GRCh37 Chromosome X, 77243895: 77243895
47 ATP7A NM_000052.6(ATP7A): c.278C> T (p.Thr93Met) single nucleotide variant Uncertain significance rs539177302 GRCh38 Chromosome X, 77988399: 77988399
48 ATP7A NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs372898963 GRCh37 Chromosome X, 77266696: 77266696
49 ATP7A NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs372898963 GRCh38 Chromosome X, 78011199: 78011199
50 ATP7A NM_000052.6(ATP7A): c.1009G> A (p.Ala337Thr) single nucleotide variant Benign/Likely benign rs138039591 GRCh37 Chromosome X, 77245127: 77245127

Expression for Occipital Horn Syndrome

Search GEO for disease gene expression data for Occipital Horn Syndrome.

Pathways for Occipital Horn Syndrome

GO Terms for Occipital Horn Syndrome

Biological processes related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.26 ATP7A DBH
2 collagen fibril organization GO:0030199 9.16 ATP7A LOX
3 blood vessel remodeling GO:0001974 8.96 ATP7A DBH
4 elastic fiber assembly GO:0048251 8.62 ATP7A LOX

Molecular functions related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.8 ATP7A DBH LOX

Sources for Occipital Horn 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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