OHS
MCID: OCC006
MIFTS: 54

Occipital Horn Syndrome (OHS)

Categories: 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 12 73 20 58 72 36 13 54 44 15
Ohs 57 20 72
Cutis Laxa, X-Linked 29 6
Cutis Laxa X-Linked 20 72
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly 57
Ehlers-Danlos Syndrome Occipital Horn Type 72
Cutis Laxa, X-Linked, Formerly 57
Ehlers-Danlos Syndrome Type Ix 12
Ehlers-Danlos Syndrome Type 9 12
Syndrome, Occipital Horn 39
X-Linked Cutis Laxa 12
Eds Ix, Formerly 57
Eds9, Formerly 57
Eds Ix 12
Eds9 72

Characteristics:

Orphanet epidemiological data:

58
occipital horn syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
occipital horn syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Occipital Horn Syndrome

KEGG : 36 Occipital horn syndrome (OHS), formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is a mildest form of Menkes disease (MD). MD and OHS are X-linked recessive disorders of impaired copper metabolism due to mutations in the ATP7A gene. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years. On the other hand, the neurological symptoms of OHS patients are milder and lead to a clinical picture mainly characterized by connective tissue manifestations and skeletal abnormalities that include occipital exostoses, which give rise to the syndrome's name. These patients have normal or close-to-normal cognitive functions.

MalaCards based summary : Occipital Horn Syndrome, also known as ohs, is related to disorder of copper metabolism and cutis laxa. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include bone and heart, and related phenotypes are intellectual disability and cerebral calcification

Disease Ontology : 12 A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has material basis in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.

GARD : 20 Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. Symptoms of OHS usually begin in early childhood. They may include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and joints, and dysfunction of the nerves that regulate nonvoluntary body functions ( dysautonomia ). Other symptoms may include bladder diverticula, coarse hair, low muscle tone, and mild intellectual disability. This condition is a milder form of Menkes disease, which affects copper levels in the body. OHS is caused by genetic changes ( DNA variants ) in the ATP7A gene, and it is inherited in an x-linked recessive pattern. It can be diagnosed based on the symptoms, genetic testing, and other blood tests. Treatment for OHS is based on managing the symptoms.

OMIM® : 57 Occipital horn syndrome (OHS) 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 73)
# Related Disease Score Top Affiliating Genes
1 disorder of copper metabolism 30.7 ATP7B ATP7A
2 cutis laxa 30.3 RIN2 LOX GORAB FBLN5 ELN EFEMP2
3 menkes disease 29.9 TYR PAM LOX ELN DBH CP
4 aneurysm 29.7 LOX FBLN5 ELN EFEMP2
5 aortic aneurysm, familial abdominal, 1 29.7 LOX ELN EFEMP2
6 aortic aneurysm 29.5 LOX FBLN5 ELN EFEMP2
7 connective tissue disease 29.3 LOX FBLN5 ELN ATP7A
8 spinal muscular atrophy, distal, x-linked 3 28.7 PAM DBH CP COX17 ATP7B ATP7A
9 obesity-hypoventilation syndrome 11.4
10 overhydrated hereditary stomatocytosis 11.2
11 exostoses, multiple, type i 11.2
12 ehlers-danlos syndrome 10.3
13 ovarian hyperstimulation syndrome 10.3
14 atp7a-related copper transport disorders 10.2
15 dopamine beta-hydroxylase deficiency 10.2 DBH ATP7A ATOX1
16 osteogenic sarcoma 10.1
17 acquired cutis laxa 10.1 FBLN5 ELN
18 muscular atrophy 10.1
19 mid-dermal elastolysis 10.1 FBLN5 ELN
20 pettigrew syndrome 10.1 PAM AP1S1
21 inherited metabolic disorder 10.1 CP ATP7B ATP7A
22 ehlers-danlos syndrome, spondylodysplastic type, 3 10.0 LOX ELN
23 osteoarthritis 10.0
24 phacogenic glaucoma 10.0 LOX FBLN5 ELN
25 aceruloplasminemia 10.0 CP ATP7B ATP7A ATOX1
26 pelvic organ prolapse 10.0 LOX FBLN5 ELN
27 macs syndrome 10.0 RIN2 FBLN5
28 costello syndrome 10.0 LOX FBLN5 ELN
29 cutis laxa, autosomal dominant 2 10.0 FBLN5 ELN
30 prune belly syndrome 10.0
31 williams-beuren syndrome 10.0
32 cardiac arrest 10.0
33 cerebellar hypoplasia 10.0
34 diarrhea 10.0
35 autonomic dysfunction 10.0
36 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.0 PAM ATP7B ATP7A AP1S1
37 tricuspid valve prolapse 9.9 FBLN5 EFEMP2
38 inguinal hernia 9.9 LOX FBLN5 ELN
39 neu-laxova syndrome 2 9.9 ELN ALDH18A1
40 insulin-like growth factor i 9.9
41 hearing loss, noise-induced 9.9
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
43 antisynthetase syndrome 9.9
44 enthesopathy 9.9
45 hypoglycemia 9.9
46 48,xyyy 9.9
47 hermansky-pudlak syndrome 9.8 TYR CP ATP7A AP1S1
48 fbln5-related cutis laxa 9.8 FBLN5 ELN EFEMP2
49 wilson disease 9.8 LOX DBH CP ATP7B ATP7A ATOX1
50 arterial tortuosity syndrome 9.8 FBLN5 ELN EFEMP2

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:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
5 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
6 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
7 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
8 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
9 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
10 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
11 hypothermia 58 31 frequent (33%) Frequent (79-30%) HP:0002045
12 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
13 synostosis of joints 58 31 frequent (33%) Frequent (79-30%) HP:0100240
14 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
15 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
16 rickets 58 31 frequent (33%) Frequent (79-30%) HP:0002748
17 hepatitis 58 31 frequent (33%) Frequent (79-30%) HP:0012115
18 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
19 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
20 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
21 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
22 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
23 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
24 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
25 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749
26 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
27 keloids 58 31 frequent (33%) Frequent (79-30%) HP:0010562
28 venous insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005293
29 abnormality of the sense of smell 58 31 frequent (33%) Frequent (79-30%) HP:0004408
30 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
31 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
32 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
33 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
34 gastroparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002578
35 esophagitis 58 31 frequent (33%) Frequent (79-30%) HP:0100633
36 hypotonia 31 frequent (33%) HP:0001252
37 vascular dilatation 31 frequent (33%) HP:0002617
38 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
39 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
40 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
41 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
42 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
43 coarse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002208
44 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
45 large iliac wings 58 31 occasional (7.5%) Occasional (29-5%) HP:0008818
46 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
47 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
48 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
49 bladder diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000015
50 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
kyphosis
mild platyspondyly

Skeletal Feet:
pes planus

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

Genitourinary Kidneys:
hydronephrosis

Abdomen Gastrointestinal:
chronic diarrhea
hiatal hernia

Skeletal Pelvis:
coxa valga
pelvic exostoses

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

Neoplasia:
bladder carcinoma

Genitourinary Bladder:
bladder diverticula
bladder rupture

Head And Neck Head:
persistent, open anterior fontanel

Neurologic Central Nervous System:
low-normal iq

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

Skin Nails Hair Hair:
coarse hair

Skeletal:
osteoporosis
joint laxity

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

Chest External Features:
narrow chest
narrow shoulders

Skeletal Hands:
capitate-hamate fusion

Head And Neck Neck:
long neck

Genitourinary Ureters:
ureteral obstruction

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Occipital Horn Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10 ALDH18A1 ATOX1 ATP6V0A2 ATP7A ATP7B DBH
2 cardiovascular system MP:0005385 9.97 ATOX1 ATP7A CP DBH EFEMP2 FBLN5
3 mortality/aging MP:0010768 9.93 ALDH18A1 AP1S1 ATOX1 ATP7A ATP7B COX17
4 pigmentation MP:0001186 9.35 ATOX1 ATP7A ATP7B CP TYR
5 respiratory system MP:0005388 9.17 ATOX1 ATP7A EFEMP2 FBLN5 GORAB LOX

Drugs & Therapeutics for Occipital Horn Syndrome

Search Clinical Trials , NIH Clinical Center for Occipital Horn Syndrome

Cochrane evidence based reviews: 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:

40
Bone, Heart

Publications for Occipital Horn Syndrome

Articles related to Occipital Horn Syndrome:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Functional copper transport explains neurologic sparing in occipital horn syndrome. 6 57 61 54
17108763 2006
2
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. 57 6 61 54
7842019 1994
3
Occipital horn syndrome: report of a patient and review of the literature. 6 57 61
8149649 1994
4
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 54 61 6
20170900 2010
5
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. 54 61 6
11431706 2001
6
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 6 54 61
11241493 2001
7
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. 6 61 54
10739752 2000
8
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. 6 54 61
9246006 1997
9
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. 57 54 61
8923001 1996
10
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. 6 61
22210628 2012
11
Splice site mutations in the ATP7A gene. 61 6
21494555 2011
12
Twenty-five novel mutations including duplications in the ATP7A gene. 61 6
21208200 2011
13
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. 61 6
9880610 1999
14
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. 61 57
7887410 1995
15
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. 57 61
8099605 1993
16
Occipital horn syndrome. Additional radiographic findings in two new cases. 61 57
1408447 1992
17
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families. 6
28451781 2017
18
In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease. 6
28119449 2017
19
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. 6
20652413 2010
20
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. 6
19194885 2009
21
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. 6
10319589 1999
22
Congenital cutis laxa and lysyl oxidase deficiency. 57
9111998 1997
23
Identification of point mutations in 41 unrelated patients affected with Menkes disease. 6
8981948 1997
24
Are X-linked cutis laxa and Menkes disease allelic? 57
8490656 1993
25
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. 57
8490659 1993
26
Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. 57
9556668 1985
27
Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. 57
6140952 1983
28
Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. 57
6120954 1982
29
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. 57
6104292 1980
30
An X-linked form of cutis laxa due to deficiency of lysyl oxidase. 57
953234 1976
31
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. 61 54
17496194 2007
32
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. 54 61
15238919 2004
33
Genomic organization of ATOX1, a human copper chaperone. 61 54
12594858 2003
34
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. 61 54
12537648 2002
35
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. 61 54
11936860 2001
36
Menkes syndrome and animal models. 61 54
9587146 1998
37
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. 54 61
9467005 1998
38
Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction. 61 54
8638917 1996
39
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease. 61
33359139 2021
40
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum. 61
33137485 2020
41
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. 61
32994893 2020
42
Report of a novel ATP7A mutation causing distal motor neuropathy. 61
31558336 2019
43
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature. 61
31336972 2019
44
Classification and differential diagnosis of Wilson's disease. 61
31179300 2019
45
Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration. 61
29599289 2018
46
Wilson disease and related copper disorders. 61
29325617 2018
47
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype. 61
28761814 2017
48
Menkes disease and response to copper histidine: An Indian case series. 61
28298846 2017
49
Phenotypic convergence of Menkes and Wilson disease. 61
27878136 2016
50
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). 61
27293072 2016

Variations for Occipital Horn Syndrome

ClinVar genetic disease variations for Occipital Horn Syndrome:

6 (show top 50) (show all 267)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP7A ATP7A, IVSAS, 2642A-G, -2 SNV Pathogenic 11781 GRCh37:
GRCh38:
2 ATP7A NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) SNV Pathogenic 11782 rs151340631 GRCh37: X:77266713-77266713
GRCh38: X:78011216-78011216
3 ATP7A ATP7A, 8-BP DEL, NT1552 Deletion Pathogenic 11783 GRCh37:
GRCh38:
4 ATP7A NM_000052.7(ATP7A):c.1707+6T>A SNV Pathogenic 210397 rs797045334 GRCh37: X:77258739-77258739
GRCh38: X:78003242-78003242
5 ATP7A NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) Deletion Pathogenic 11787 rs1569550376 GRCh37: X:77301914-77301914
GRCh38: X:78046417-78046417
6 ATP7A NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) SNV Pathogenic 11792 rs151340632 GRCh37: X:77298192-77298192
GRCh38: X:78042694-78042694
7 ATP7A NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) SNV Pathogenic 459840 rs1557237451 GRCh37: X:77289281-77289281
GRCh38: X:78033783-78033783
8 ATP7A NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) Deletion Pathogenic 571199 rs1569549974 GRCh37: X:77270219-77270219
GRCh38: X:78014722-78014722
9 ATP7A NC_000023.10:g.(?_77271231)_(77271398_?)del Deletion Pathogenic 533690 GRCh37: X:77271231-77271398
GRCh38:
10 ATP7A NM_000052.7(ATP7A):c.453del (p.Thr152fs) Deletion Pathogenic 642741 rs1603381331 GRCh37: X:77244068-77244068
GRCh38: X:77988572-77988572
11 ATP7A NM_000052.7(ATP7A):c.3294+1G>A SNV Pathogenic 648378 rs797045374 GRCh37: X:77287081-77287081
GRCh38: X:78031583-78031583
12 ATP7A NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) SNV Pathogenic 581017 rs1569549699 GRCh37: X:77254175-77254175
GRCh38: X:77998678-77998678
13 ATP7A NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) Microsatellite Pathogenic 210474 rs797045397 GRCh37: X:77244037-77244038
GRCh38: X:77988541-77988542
14 ATP7A NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) Duplication Pathogenic 651544 rs1603389393 GRCh37: X:77287035-77287036
GRCh38: X:78031537-78031538
15 ATP7A NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) SNV Pathogenic 657355 rs1603391120 GRCh37: X:77298149-77298149
GRCh38: X:78042651-78042651
16 ATP7A NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) Deletion Pathogenic 846390 GRCh37: X:77298835-77298835
GRCh38: X:78043337-78043337
17 ATP7A NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) SNV Pathogenic 929465 GRCh37: X:77271328-77271328
GRCh38: X:78015831-78015831
18 ATP7A NM_000052.7(ATP7A):c.2663del (p.Thr888fs) Deletion Pathogenic 963560 GRCh37: X:77275777-77275777
GRCh38: X:78020280-78020280
19 ATP7A NM_000052.7(ATP7A):c.462dup (p.Lys155fs) Duplication Pathogenic 964347 GRCh37: X:77244078-77244079
GRCh38: X:77988582-77988583
20 ATP7A NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) SNV Pathogenic 11795 rs267606672 GRCh37: X:77300999-77300999
GRCh38: X:78045502-78045502
21 ATP7A NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) SNV Pathogenic 945136 GRCh37: X:77294348-77294348
GRCh38: X:78038850-78038850
22 ATP7A NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) Deletion Pathogenic 971523 GRCh37: X:77245391-77245391
GRCh38: X:77989895-77989895
23 ATP7A NM_000052.7(ATP7A):c.1946+1G>T SNV Pathogenic 976732 GRCh37: X:77266750-77266750
GRCh38: X:78011253-78011253
24 ATP7A NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) SNV Pathogenic 210404 rs72554640 GRCh37: X:77266736-77266736
GRCh38: X:78011239-78011239
25 ATP7A NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) SNV Pathogenic 11793 rs151340633 GRCh37: X:77244218-77244218
GRCh38: X:77988722-77988722
26 ATP7A NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) SNV Pathogenic 210425 rs72554645 GRCh37: X:77268586-77268586
GRCh38: X:78013089-78013089
27 ATP7A NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) SNV Pathogenic 210395 rs797045332 GRCh37: X:77258665-77258665
GRCh38: X:78003168-78003168
28 ATP7A NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) SNV Pathogenic 210411 rs797045344 GRCh37: X:77266995-77266995
GRCh38: X:78011498-78011498
29 ATP7A NM_000052.7(ATP7A):c.1544-2A>T SNV Likely pathogenic 931530 GRCh37: X:77258568-77258568
GRCh38: X:78003071-78003071
30 ATP7A NM_000052.7(ATP7A):c.2172+5G>C SNV Likely pathogenic 210415 rs797045347 GRCh37: X:77267176-77267176
GRCh38: X:78011679-78011679
31 ATP7A NM_000052.7(ATP7A):c.4006-1G>A SNV Likely pathogenic 465121 rs1557238665 GRCh37: X:77298814-77298814
GRCh38: X:78043316-78043316
32 ATP7A NM_000052.7(ATP7A):c.3111+1G>A SNV Likely pathogenic 459839 rs1557236762 GRCh37: X:77284942-77284942
GRCh38: X:78029445-78029445
33 ATP7A NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) SNV Uncertain significance 465126 rs1557239147 GRCh37: X:77302009-77302009
GRCh38: X:78046512-78046512
34 ATP7A NC_000023.10:g.(?_77266653)_(77268629_?)dup Duplication Uncertain significance 465103 GRCh37: X:77266653-77268629
GRCh38:
35 ATP7A NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) Indel Uncertain significance 465115 rs1557236745 GRCh37: X:77284858-77284860
GRCh38: X:78029361-78029363
36 ATP7A NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) SNV Uncertain significance 533672 rs1557237081 GRCh37: X:77287075-77287075
GRCh38: X:78031577-78031577
37 ATP7A NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) SNV Uncertain significance 533673 rs201999500 GRCh37: X:77254023-77254023
GRCh38: X:77998526-77998526
38 ATP7A NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) SNV Uncertain significance 533674 rs1280037924 GRCh37: X:77301808-77301808
GRCh38: X:78046311-78046311
39 ATP7A NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) SNV Uncertain significance 533675 rs1557239152 GRCh37: X:77302054-77302054
GRCh38: X:78046557-78046557
40 ATP7A NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) SNV Uncertain significance 210439 rs797045365 GRCh37: X:77284832-77284832
GRCh38: X:78029335-78029335
41 ATP7A NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) SNV Uncertain significance 465119 rs1557237452 GRCh37: X:77289284-77289284
GRCh38: X:78033786-78033786
42 ATP7A NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) SNV Uncertain significance 465107 rs1020034878 GRCh37: X:77264705-77264705
GRCh38: X:78009208-78009208
43 ATP7A NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) SNV Uncertain significance 465111 rs1557234938 GRCh37: X:77270210-77270210
GRCh38: X:78014713-78014713
44 ATP7A NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) SNV Uncertain significance 590209 rs781952393 GRCh37: X:77227153-77227153
GRCh38: X:77971656-77971656
45 ATP7A NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) SNV Uncertain significance 664180 rs1288867080 GRCh37: X:77289269-77289269
GRCh38: X:78033771-78033771
46 ATP7A NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) SNV Uncertain significance 664724 rs1353488746 GRCh37: X:77284807-77284807
GRCh38: X:78029310-78029310
47 ATP7A NM_000052.7(ATP7A):c.2498+3A>T SNV Uncertain significance 665001 rs1603386005 GRCh37: X:77270253-77270253
GRCh38: X:78014756-78014756
48 ATP7A NM_000052.7(ATP7A):c.1947-5A>G SNV Uncertain significance 665476 rs1557234466 GRCh37: X:77266941-77266941
GRCh38: X:78011444-78011444
49 ATP7A NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) SNV Uncertain significance 665730 rs1557231734 GRCh37: X:77244753-77244753
GRCh38: X:77989257-77989257
50 ATP7A NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) SNV Uncertain significance 651997 rs1193696385 GRCh37: X:77254125-77254125
GRCh38: X:77998628-77998628

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

72
# Symbol AA change Variation ID SNP ID
1 ATP7A p.Ser637Leu VAR_009999 rs151340631
2 ATP7A p.Asn1304Ser VAR_063883 rs151340632

Expression for Occipital Horn Syndrome

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

Pathways for Occipital Horn Syndrome

Pathways related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 LOX FBLN5 ELN EFEMP2
2
Show member pathways
11.12 LOX FBLN5 ELN EFEMP2
3 11.1 ATP7B ATP7A ATOX1
4 10.72 ATP7B ATP7A
5 10.66 COX17 ATP7B ATP7A ATOX1

GO Terms for Occipital Horn Syndrome

Cellular components related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.55 TYR PAM ATP7B ATP7A ATP6V0A2
2 extracellular matrix GO:0031012 9.26 LOX FBLN5 ELN EFEMP2
3 elastic fiber GO:0071953 8.8 FBLN5 ELN EFEMP2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 CP ATP7B ATP7A ATP6V0A2 ATOX1
2 oxidation-reduction process GO:0055114 9.91 TYR PAM LOX DBH CP ALDH18A1
3 extracellular matrix organization GO:0030198 9.78 LOX FBLN5 ELN ATP7A
4 hair follicle morphogenesis GO:0031069 9.54 GORAB ATP7A
5 metal ion transport GO:0030001 9.54 ATP7B ATP7A ATOX1
6 aorta development GO:0035904 9.52 LOX EFEMP2
7 response to copper ion GO:0046688 9.5 PAM ATP7B ATP7A
8 inorganic cation transmembrane transport GO:0098662 9.49 ATP7B ATP7A
9 copper ion import GO:0015677 9.46 ATP7B ATP7A
10 cellular copper ion homeostasis GO:0006878 9.43 ATP7B ATP7A ATOX1
11 divalent inorganic cation transport GO:0072511 9.4 ATP7B ATP7A
12 copper ion export GO:0060003 9.33 ATP7B ATP7A ATOX1
13 elastic fiber assembly GO:0048251 9.26 LOX FBLN5 EFEMP2 ATP7A
14 copper ion transport GO:0006825 9.02 CP COX17 ATP7B ATP7A ATOX1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 9.65 TYR PAM DBH
2 oxidoreductase activity GO:0016491 9.63 TYR PAM LOX DBH CP ALDH18A1
3 L-ascorbic acid binding GO:0031418 9.51 PAM DBH
4 cation-transporting ATPase activity GO:0019829 9.49 ATP7B ATP7A
5 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBLN5 ELN
6 cuprous ion binding GO:1903136 9.43 COX17 ATP7A
7 copper ion transmembrane transporter activity GO:0005375 9.4 ATP7B ATP7A
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen GO:0016715 9.37 PAM DBH
9 copper chaperone activity GO:0016531 9.32 COX17 ATOX1
10 copper ion binding GO:0005507 9.28 TYR PAM LOX DBH CP COX17
11 copper-dependent protein binding GO:0032767 9.26 ATP7A ATOX1
12 copper-transporting ATPase activity GO:0043682 8.96 ATP7B ATP7A

Sources for Occipital Horn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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