MCID: OCC006
MIFTS: 47

Occipital Horn Syndrome malady

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

Aliases & Classifications for Occipital Horn Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 50 46 23 52 68 12 48
Cutis Laxa X-Linked 46 68
X-Linked Cutis Laxa 52 25
Eds Ix 46 52
Ohs 46 68
Ehlers-Danlos Syndrome, Occipital Horn Type 46
 
Ehlers-Danlos Syndrome Occipital Horn Type 68
Ehlers-Danlos Syndrome Type Ix 52
Ehlers-Danlos Syndrome Type 9 52
Cutis Laxa, X-Linked 23
Stomatocytosis I 66
Eds9 68

Characteristics:

Orphanet epidemiological data:

52
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

HPO:

62
occipital horn syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 304150
Orphanet52 ORPHA198
ICD10 via Orphanet29 E83.0
MESH via Orphanet38 C537860
UMLS via Orphanet67 C0268353
MedGen35 C0268353
MeSH37 D003483

Summaries for Occipital Horn Syndrome

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NIH Rare Diseases:46 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. last updated: 2/2/2012

MalaCards based summary: Occipital Horn Syndrome, also known as cutis laxa x-linked, is related to stomatocytosis i and menkes disease, and has symptoms including abnormality of the fontanelles or cranial sutures, hyperextensible skin and joint hypermobility. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase Copper Transporting Alpha). Affiliated tissues include bone, skin and liver.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias,... (304150) more...

Wikipedia:69 Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked... more...

Related Diseases for Occipital Horn Syndrome

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



Diseases related to occipital horn syndrome

Symptoms for Occipital Horn Syndrome

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Symptoms by clinical synopsis from OMIM:

304150

Clinical features from OMIM:

304150

HPO human phenotypes related to Occipital Horn Syndrome:

(show all 82)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 hyperextensible skin hallmark (90%) HP:0000974
3 joint hypermobility hallmark (90%) HP:0001382
4 cerebral calcification hallmark (90%) HP:0002514
5 cognitive impairment hallmark (90%) HP:0100543
6 exostoses hallmark (90%) HP:0100777
7 abnormality of the palate typical (50%) HP:0000174
8 long philtrum typical (50%) HP:0000343
9 abnormality of the nose typical (50%) HP:0000366
10 pectus excavatum typical (50%) HP:0000767
11 pectus carinatum typical (50%) HP:0000768
12 narrow chest typical (50%) HP:0000774
13 platyspondyly typical (50%) HP:0000926
14 bruising susceptibility typical (50%) HP:0000978
15 atypical scarring of skin typical (50%) HP:0000987
16 brachydactyly syndrome typical (50%) HP:0001156
17 muscular hypotonia typical (50%) HP:0001252
18 abnormality of the liver typical (50%) HP:0001392
19 hypothermia typical (50%) HP:0002045
20 aneurysm typical (50%) HP:0002617
21 abnormality of the wrist typical (50%) HP:0003019
22 elbow dislocation typical (50%) HP:0003042
23 reduced bone mineral density typical (50%) HP:0004349
24 venous insufficiency typical (50%) HP:0005293
25 feeding difficulties in infancy typical (50%) HP:0008872
26 synostosis of joints typical (50%) HP:0100240
27 recurrent urinary tract infections occasional (7.5%) HP:0000010
28 bladder diverticulum occasional (7.5%) HP:0000015
29 high forehead occasional (7.5%) HP:0000348
30 abnormality of the pinna occasional (7.5%) HP:0000377
31 downslanted palpebral fissures occasional (7.5%) HP:0000494
32 pes planus occasional (7.5%) HP:0001763
33 coarse hair occasional (7.5%) HP:0002208
34 scoliosis occasional (7.5%) HP:0002650
35 osteolysis occasional (7.5%) HP:0002797
36 kyphosis occasional (7.5%) HP:0002808
37 genu valgum occasional (7.5%) HP:0002857
38 abnormality of the fibula occasional (7.5%) HP:0002991
39 abnormality of the tibia occasional (7.5%) HP:0002992
40 abnormality of the shoulder occasional (7.5%) HP:0003043
41 abnormality of the humerus occasional (7.5%) HP:0003063
42 abnormality of the hip bone occasional (7.5%) HP:0003272
43 hernia of the abdominal wall occasional (7.5%) HP:0004299
44 bladder diverticulum HP:0000015
45 hydronephrosis HP:0000126
46 high palate HP:0000218
47 narrow face HP:0000275
48 long face HP:0000276
49 long philtrum HP:0000343
50 high forehead HP:0000348
51 convex nasal ridge HP:0000444
52 long neck HP:0000472
53 pectus excavatum HP:0000767
54 pectus carinatum HP:0000768
55 narrow chest HP:0000774
56 broad ribs HP:0000885
57 short clavicles HP:0000894
58 broad clavicles HP:0000916
59 platyspondyly HP:0000926
60 osteoporosis HP:0000939
61 hyperextensible skin HP:0000974
62 soft skin HP:0000977
63 bruising susceptibility HP:0000978
64 capitate-hamate fusion HP:0001241
65 orthostatic hypotension HP:0001278
66 limited elbow extension HP:0001377
67 joint laxity HP:0001388
68 redundant skin HP:0001582
69 pes planus HP:0001763
70 chronic diarrhea HP:0002028
71 hiatus hernia HP:0002036
72 coarse hair HP:0002208
73 coxa valga HP:0002673
74 kyphosis HP:0002808
75 genu valgum HP:0002857
76 bladder carcinoma HP:0002862
77 limited knee extension HP:0003066
78 pelvic bone exostoses HP:0003276
79 persistent open anterior fontanelle HP:0004474
80 carotid artery tortuosity HP:0005302
81 short humerus HP:0005792
82 ureteral obstruction HP:0006000

Drugs & Therapeutics for Occipital Horn Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CopperPhase 316615158-11-9, 7440-50-827099
Synonyms:
 
Copper
Cu
2histidineNutraceuticalPhase 337

Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper DeficiencyRecruitingNCT00811785Phase 3

Search NIH Clinical Center for Occipital Horn Syndrome

Genetic Tests for Occipital Horn Syndrome

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Genetic tests related to Occipital Horn Syndrome:

id Genetic test Affiliating Genes
1 Cutis Laxa, X-Linked25
2 Occipital Horn Syndrome23

Anatomical Context for Occipital Horn Syndrome

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MalaCards organs/tissues related to Occipital Horn Syndrome:

34
Bone, Skin, Liver

Animal Models for Occipital Horn Syndrome or affiliated genes

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Publications for Occipital Horn Syndrome

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Articles related to Occipital Horn Syndrome:

(show all 28)
idTitleAuthorsYear
1
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. (24002164)
2013
2
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. (23281160)
2013
3
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome. (22575542)
2012
4
Occipital horn syndrome in a woman: skeletal radiological findings. (21553336)
2011
5
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. (17496194)
2007
6
Functional copper transport explains neurologic sparing in occipital horn syndrome. (17108763)
2006
7
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
8
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. (12537648)
2002
9
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (11241493)
2001
10
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. (11936860)
2001
11
Neuropathology of occipital horn syndrome. (11669352)
2001
12
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. (11431706)
2001
13
Intracranial and extracranial MR angiography in occipital horn syndrome. (11044951)
2000
14
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. (10739752)
2000
15
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. (9880610)
1999
16
Occipital Horn syndrome in a 2-year-old boy. (10457850)
1999
17
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
18
Metabolic and molecular bases of Menkes disease and occipital horn syndrome. (10463276)
1998
19
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. (9246006)
1997
20
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. (8638917)
1996
21
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. (8923001)
1996
22
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. (7887410)
1995
23
Menkes disease and occipital horn syndrome. (7583733)
1995
24
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. (7842019)
1994
25
Occipital horn syndrome: report of a patient and review of the literature. (8149649)
1994
26
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. (8099605)
1993
27
Occipital horn syndrome. Additional radiographic findings in two new cases. (1408447)
1992
28
Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case]. (1682078)
1991

Variations for Occipital Horn Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1ATP7Ap.Ser637LeuVAR_009999rs28936068
2ATP7Ap.Asn1304SerVAR_063883

Clinvar genetic disease variations for Occipital Horn Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP7AATP7A, IVSAS, 2642A-G, -2single nucleotide variantPathogenic
2ATP7ANM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu)single nucleotide variantPathogenicrs151340631GRCh37Chr X, 77266713: 77266713
3ATP7AATP7A, 8-BP DEL, NT1552deletionPathogenic
4ATP7AATP7A, IVS6DS, T-A, +6single nucleotide variantPathogenic
5ATP7AATP7A, 1-BP DEL, 4497GdeletionPathogenic
6ATP7ANM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser)single nucleotide variantPathogenicrs151340632GRCh37Chr X, 77298192: 77298192

Expression for genes affiliated with Occipital Horn Syndrome

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

Pathways for genes affiliated with Occipital Horn Syndrome

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GO Terms for genes affiliated with Occipital Horn Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1elastic fiber assemblyGO:00482519.7ATP7A, LOX
2blood vessel remodelingGO:00019749.7ATP7A, DBH
3locomotory behaviorGO:00076269.5ATP7A, DBH
4collagen fibril organizationGO:00301999.3ATP7A, LOX
5extracellular matrix organizationGO:00301989.3ATP7A, LOX

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055078.7ATP7A, DBH, LOX

Sources for Occipital Horn Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet