OHS
MCID: OCC006
MIFTS: 50

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 58 77 54 60 76 38 13 56 41
Ohs 58 54 76
Cutis Laxa, X-Linked 30 6
Cutis Laxa X-Linked 54 76
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly 58
Ehlers-Danlos Syndrome Occipital Horn Type 76
Cutis Laxa, X-Linked, Formerly 58
Ehlers-Danlos Syndrome Type Ix 60
Ehlers-Danlos Syndrome Type 9 60
X-Linked Cutis Laxa 60
Eds Ix, Formerly 58
Eds9, Formerly 58
Eds Ix 60
Eds9 76

Characteristics:

Orphanet epidemiological data:

60
occipital horn syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
occipital horn syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Occipital Horn Syndrome

NIH Rare Diseases : 54 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 skin and bone, and related phenotypes are intellectual disability and cerebral calcification

OMIM : 58 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 : 76 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 : 77 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 262)
# Related Disease Score Top Affiliating Genes
1 menkes disease 31.1 ATP7A DBH LOX
2 obesity-hypoventilation syndrome 11.6
3 bombay phenotype 11.4
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 horns in sheep 10.4
12 hyperparathyroidism 10.3
13 secondary hyperparathyroidism 10.3
14 rickets 10.2
15 hypertrophic olivary degeneration 10.2
16 bone disease 10.2
17 breast cancer 10.2
18 renal osteodystrophy 10.2
19 uremia 10.2
20 streptococcal group a invasive disease 10.1
21 isolated optic neuritis 10.1
22 leukemia 10.1
23 bone resorption disease 10.1
24 spondyloenchondrodysplasia 10.1
25 multiple sclerosis 10.0
26 primary orthostatic tremor 10.0
27 osteoporosis 10.0
28 retinoblastoma 10.0
29 rheumatoid arthritis 10.0
30 myelofibrosis 10.0
31 arthritis 10.0
32 diabetes mellitus 10.0
33 osteomalacia 10.0
34 sarcoma 10.0
35 polymyositis 10.0
36 prostate cancer 10.0
37 lipoid congenital adrenal hyperplasia 10.0
38 acute insulin response 10.0
39 prostate cancer, hereditary, 8 10.0
40 late-onset retinal degeneration 10.0
41 prostate cancer, hereditary, 6 10.0
42 metabolic acidosis 10.0
43 psoriasis 10.0
44 degos 'en cocarde' erythrokeratoderma 10.0
45 hereditary hypophosphatemic rickets 10.0
46 ehlers-danlos syndrome 9.9
47 muscular atrophy 9.9
48 diabetes mellitus, noninsulin-dependent 9.9
49 systemic lupus erythematosus 9.9
50 spondylocarpotarsal synostosis syndrome 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

Human phenotypes related to Occipital Horn Syndrome:

60 33 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cerebral calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0002514
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 exostoses 60 33 hallmark (90%) Very frequent (99-80%) HP:0100777
5 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
6 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
7 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
8 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
9 delayed cranial suture closure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000270
10 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
11 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
12 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
13 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
14 hypothermia 60 33 frequent (33%) Frequent (79-30%) HP:0002045
15 synostosis of joints 60 33 frequent (33%) Frequent (79-30%) HP:0100240
16 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
17 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
18 rickets 60 33 frequent (33%) Frequent (79-30%) HP:0002748
19 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
20 hepatitis 60 33 frequent (33%) Frequent (79-30%) HP:0012115
21 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
22 platyspondyly 60 33 frequent (33%) Frequent (79-30%) HP:0000926
23 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
24 high, narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0002705
25 jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0000952
26 gastroparesis 60 33 frequent (33%) Frequent (79-30%) HP:0002578
27 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
28 osteomalacia 60 33 frequent (33%) Frequent (79-30%) HP:0002749
29 esophagitis 60 33 frequent (33%) Frequent (79-30%) HP:0100633
30 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
31 keloids 60 33 frequent (33%) Frequent (79-30%) HP:0010562
32 venous insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0005293
33 abnormality of the sense of smell 60 33 frequent (33%) Frequent (79-30%) HP:0004408
34 hiatus hernia 60 33 frequent (33%) Frequent (79-30%) HP:0002036
35 abnormality of the wrist 60 33 frequent (33%) Frequent (79-30%) HP:0003019
36 poor suck 60 33 frequent (33%) Frequent (79-30%) HP:0002033
37 dilatation 33 frequent (33%) HP:0002617
38 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
39 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
40 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
41 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
42 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
43 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
44 coarse hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002208
45 narrow chest 60 33 occasional (7.5%) Occasional (29-5%) HP:0000774
46 coxa valga 60 33 occasional (7.5%) Occasional (29-5%) HP:0002673
47 large iliac wings 60 33 occasional (7.5%) Occasional (29-5%) HP:0008818
48 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
49 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
50 recurrent urinary tract infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0000010

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Neck:
long neck

Genitourinary Ureters:
ureteral obstruction

Genitourinary Bladder:
bladder diverticula
bladder rupture

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

Neoplasia:
bladder carcinoma

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

Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
hooked nose

Skeletal Skull:
occipital horn exostoses

Laboratory Abnormalities:
decreased serum copper
decreased ceruloplasmin

Clinical features from OMIM:

304150

MGI Mouse Phenotypes related to Occipital Horn Syndrome:

47
# 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 Nutrients Phase 3
4 Trace Elements Phase 3
5 Micronutrients 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 30 ATP7A

Anatomical Context for Occipital Horn Syndrome

MalaCards organs/tissues related to Occipital Horn Syndrome:

42
Skin, Bone

Publications for Occipital Horn Syndrome

Articles related to Occipital Horn Syndrome:

(show top 50) (show all 64)
# Title Authors Year
1
The Safe Use of Pesticides: A Risk Assessment Procedure for the Enhancement of Occupational Health and Safety (OHS) Management. ( 30678137 )
2019
2
A Qualitative Study of HR/OHS Stress Interventions in Australian Universities. ( 29315278 )
2018
3
Study on the Influence of Government Intervention on the Occupational Health and Safety (OHS) Services of Small- and Medium-Sized Enterprises (SMEs). ( 30498757 )
2018
4
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype. ( 28761814 )
2017
5
The relationships between OHS prevention costs, safety performance, employee satisfaction and accident costs. ( 27667202 )
2017
6
NIV for OHS without severe OSAS: is it worth it? ( 27507900 )
2016
7
'Sometimes your safety goes a bit by the wayside' … exploring occupational health and safety (OHS) with student nurses. ( 27525567 )
2016
8
APHA OHS: 100 Years of Activism--Call to Action. ( 26067776 )
2015
9
Letter to the Editor: Salute to the Archivists and OHS Co-Founders. ( 26638338 )
2015
10
Rebuttal: 'Obesity hypoventilation syndrome (OHS): does the current definition need revisiting?'. ( 24858324 )
2014
11
APHA OHS AT 100--a look to the future. ( 25261020 )
2014
12
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. ( 23281160 )
2013
13
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. ( 24002164 )
2013
14
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome. ( 22575542 )
2012
15
Addressing the cultural complexity of OHS in the Australian mining industry. ( 22317406 )
2012
16
Occipital horn syndrome in a woman: skeletal radiological findings. ( 21553336 )
2011
17
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
18
Genuine worker participation-an indispensable key to effective global OHS. ( 19778830 )
2009
19
OHS students: reaching a decision about hosting placements. ( 18300107 )
2008
20
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. ( 17496194 )
2007
21
Evidence-based practice guidelines in OHS: are they agree-able? ( 17284870 )
2007
22
Too much has changed for old data to help today's OHS practitioner. ( 17461014 )
2007
23
The reproducibility of the Denplan Oral Health Score (OHS) in general dental practitioners. ( 17615826 )
2007
24
Organisational restructuring/downsizing, OHS regulation and worker health and wellbeing. ( 17662403 )
2007
25
Functional copper transport explains neurologic sparing in occipital horn syndrome. ( 17108763 )
2006
26
Exposure assessment in SMES: a low-cost approach to bring OHS services to small-scale enterprises. ( 16610529 )
2006
27
Verteporfin therapy for CNV secondary to OHS. ( 17157140 )
2006
28
New USDA animal identification system; OHS partnership continues. ( 15685182 )
2005
29
Occupational light-vehicle use and OHS legislative frameworks: an Australian example. ( 15875893 )
2005
30
Synthesis and recommendations of the economic evaluation of OHS interventions at the company level conference. ( 16038935 )
2005
31
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
32
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
33
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. ( 12537648 )
2002
34
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. ( 11936860 )
2001
35
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. ( 11431706 )
2001
36
Neuropathology of occipital horn syndrome. ( 11669352 )
2001
37
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. ( 11241493 )
2001
38
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. ( 10739752 )
2000
39
Intracranial and extracranial MR angiography in occipital horn syndrome. ( 11044951 )
2000
40
OHS management systems: a survey. ( 10868376 )
2000
41
Getting more from your OHS software system. ( 11056906 )
2000
42
Integrating OHS, environmental, and quality management standards. ( 11797822 )
2000
43
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. ( 9880610 )
1999
44
Occipital Horn syndrome in a 2-year-old boy. ( 10457850 )
1999
45
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
46
Metabolic and molecular bases of Menkes disease and occipital horn syndrome. ( 10463276 )
1998
47
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. ( 9246006 )
1997
48
Small Business Owners' Knowledge of Their Occupational Health and Safety (OHS) Legislative Responsibilities. ( 10602595 )
1997
49
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. ( 8923001 )
1996
50
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. ( 7887410 )
1995

Variations for Occipital Horn Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 ATP7A p.Ser637Leu VAR_009999 rs151340631
2 ATP7A p.Asn1304Ser VAR_063883 rs151340632

ClinVar genetic disease variations for Occipital Horn Syndrome:

6 (show top 50) (show all 182)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh37 Chromosome X, 77301954: 77301954
2 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh38 Chromosome X, 78046457: 78046457
3 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh37 Chromosome X, 77267069: 77267069
4 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh38 Chromosome X, 78011572: 78011572
5 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh37 Chromosome X, 77244182: 77244182
6 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh38 Chromosome X, 77988686: 77988686
7 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh37 Chromosome X, 77254154: 77254154
8 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh38 Chromosome X, 77998657: 77998657
9 ATP7A NM_000052.6(ATP7A): c.1707+6T> A single nucleotide variant Uncertain significance rs797045334 GRCh38 Chromosome X, 78003242: 78003242
10 ATP7A NM_000052.6(ATP7A): c.1707+6T> A single nucleotide variant Uncertain significance rs797045334 GRCh37 Chromosome X, 77258739: 77258739
11 ATP7A NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201788154 GRCh37 Chromosome X, 77270204: 77270204
12 ATP7A NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201788154 GRCh38 Chromosome X, 78014707: 78014707
13 ATP7A NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138958687 GRCh37 Chromosome X, 77276563: 77276563
14 ATP7A NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138958687 GRCh38 Chromosome X, 78021066: 78021066
15 ATP7A NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797045365 GRCh38 Chromosome X, 78029335: 78029335
16 ATP7A NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797045365 GRCh37 Chromosome X, 77284832: 77284832
17 ATP7A NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val) single nucleotide variant Benign/Likely benign rs139781067 GRCh38 Chromosome X, 78042714: 78042714
18 ATP7A NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val) single nucleotide variant Benign/Likely benign rs139781067 GRCh37 Chromosome X, 77298212: 77298212
19 ATP7A ATP7A, IVSAS, 2642A-G, -2 single nucleotide variant Pathogenic
20 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh37 Chromosome X, 77266713: 77266713
21 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh38 Chromosome X, 78011216: 78011216
22 ATP7A ATP7A, 8-BP DEL, NT1552 deletion Pathogenic
23 ATP7A NM_000052.6(ATP7A): c.4352delG (p.Gly1451Valfs) deletion Pathogenic GRCh38 Chromosome X, 78046419: 78046419
24 ATP7A NM_000052.6(ATP7A): c.4352delG (p.Gly1451Valfs) deletion Pathogenic GRCh37 Chromosome X, 77301916: 77301916
25 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh37 Chromosome X, 77298192: 77298192
26 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh38 Chromosome X, 78042694: 78042694
27 ATP7A NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys) single nucleotide variant Benign rs61742278 GRCh37 Chromosome X, 77264714: 77264714
28 ATP7A NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys) single nucleotide variant Benign rs61742278 GRCh38 Chromosome X, 78009217: 78009217
29 ATP7A NM_000052.6(ATP7A): c.610+8G> A single nucleotide variant Benign rs144616937 GRCh37 Chromosome X, 77244235: 77244235
30 ATP7A NM_000052.6(ATP7A): c.610+8G> A single nucleotide variant Benign rs144616937 GRCh38 Chromosome X, 77988739: 77988739
31 ATP7A NM_000052.6(ATP7A): c.3863A> G (p.Gln1288Arg) single nucleotide variant Uncertain significance rs375788705 GRCh37 Chromosome X, 77298144: 77298144
32 ATP7A NM_000052.6(ATP7A): c.3863A> G (p.Gln1288Arg) single nucleotide variant Uncertain significance rs375788705 GRCh38 Chromosome X, 78042646: 78042646
33 ATP7A NM_000052.6(ATP7A): c.922A> G (p.Ile308Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782351352 GRCh38 Chromosome X, 77989544: 77989544
34 ATP7A NM_000052.6(ATP7A): c.922A> G (p.Ile308Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782351352 GRCh37 Chromosome X, 77245040: 77245040
35 ATP7A NM_000052.6(ATP7A): c.2531G> A (p.Arg844His) single nucleotide variant Conflicting interpretations of pathogenicity rs367775730 GRCh38 Chromosome X, 78015786: 78015786
36 ATP7A NM_000052.6(ATP7A): c.2531G> A (p.Arg844His) single nucleotide variant Conflicting interpretations of pathogenicity rs367775730 GRCh37 Chromosome X, 77271283: 77271283
37 ATP7A NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372489000 GRCh38 Chromosome X, 78042666: 78042666
38 ATP7A NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372489000 GRCh37 Chromosome X, 77298164: 77298164
39 ATP7A NM_000052.6(ATP7A): c.3894G> C (p.Met1298Ile) single nucleotide variant Uncertain significance rs782499160 GRCh37 Chromosome X, 77298175: 77298175
40 ATP7A NM_000052.6(ATP7A): c.3894G> C (p.Met1298Ile) single nucleotide variant Uncertain significance rs782499160 GRCh38 Chromosome X, 78042677: 78042677
41 ATP7A NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143214563 GRCh37 Chromosome X, 77266954: 77266954
42 ATP7A NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143214563 GRCh38 Chromosome X, 78011457: 78011457
43 ATP7A NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs146651049 GRCh37 Chromosome X, 77298815: 77298815
44 ATP7A NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs146651049 GRCh38 Chromosome X, 78043317: 78043317
45 ATP7A NM_000052.6(ATP7A): c.327G> A (p.Lys109=) single nucleotide variant Benign rs61747968 GRCh37 Chromosome X, 77243944: 77243944
46 ATP7A NM_000052.6(ATP7A): c.327G> A (p.Lys109=) single nucleotide variant Benign rs61747968 GRCh38 Chromosome X, 77988448: 77988448
47 ATP7A NM_000052.6(ATP7A): c.278C> T (p.Thr93Met) single nucleotide variant Uncertain significance rs539177302 GRCh37 Chromosome X, 77243895: 77243895
48 ATP7A NM_000052.6(ATP7A): c.278C> T (p.Thr93Met) single nucleotide variant Uncertain significance rs539177302 GRCh38 Chromosome X, 77988399: 77988399
49 ATP7A NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs372898963 GRCh37 Chromosome X, 77266696: 77266696
50 ATP7A NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs372898963 GRCh38 Chromosome X, 78011199: 78011199

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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45 MeSH
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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