MCID: OCC006
MIFTS: 46

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:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 51 47 24 53 69 12 49
X-Linked Cutis Laxa 53 26
Cutis Laxa X-Linked 47 69
Ohs 47 69
Ehlers-Danlos Syndrome Occipital Horn Type 69
Ehlers-Danlos Syndrome Type Ix 53
 
Ehlers-Danlos Syndrome Type 9 53
Cutis Laxa, X-Linked 24
Stomatocytosis I 67
Eds Ix 53
Eds9 69

Characteristics:

Orphanet epidemiological data:

53
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

HPO:

63
occipital horn syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 304150
Orphanet53 ORPHA198
ICD10 via Orphanet30 E83.0
MESH via Orphanet39 C537860
UMLS via Orphanet68 C0268353
MedGen36 C0268353
MeSH38 D003483

Summaries for Occipital Horn Syndrome

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NIH Rare Diseases:47 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 x-linked cutis laxa, is related to menkes disease and exostoses, multiple, type 1, 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, and related mouse phenotype homeostasis/metabolism.

OMIM:51 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias,... (304150) more...

UniProtKB/Swiss-Prot:69 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:70 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

Human phenotypes related to Occipital Horn Syndrome:

 63 (show all 69)
id Description HPO Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
2 hyperextensible skin63 hallmark (90%) HP:0000974
3 joint hypermobility63 hallmark (90%) HP:0001382
4 cerebral calcification63 hallmark (90%) HP:0002514
5 cognitive impairment63 hallmark (90%) HP:0100543
6 exostoses63 hallmark (90%) HP:0100777
7 abnormality of the palate63 typical (50%) HP:0000174
8 long philtrum63 typical (50%) HP:0000343
9 abnormality of the nose63 typical (50%) HP:0000366
10 pectus excavatum63 typical (50%) HP:0000767
11 pectus carinatum63 typical (50%) HP:0000768
12 narrow chest63 typical (50%) HP:0000774
13 platyspondyly63 typical (50%) HP:0000926
14 bruising susceptibility63 typical (50%) HP:0000978
15 atypical scarring of skin63 typical (50%) HP:0000987
16 brachydactyly syndrome63 typical (50%) HP:0001156
17 muscular hypotonia63 typical (50%) HP:0001252
18 abnormality of the liver63 typical (50%) HP:0001392
19 hypothermia63 typical (50%) HP:0002045
20 aneurysm63 typical (50%) HP:0002617
21 abnormality of the wrist63 typical (50%) HP:0003019
22 elbow dislocation63 typical (50%) HP:0003042
23 reduced bone mineral density63 typical (50%) HP:0004349
24 venous insufficiency63 typical (50%) HP:0005293
25 feeding difficulties in infancy63 typical (50%) HP:0008872
26 synostosis of joints63 typical (50%) HP:0100240
27 recurrent urinary tract infections63 occasional (7.5%) HP:0000010
28 bladder diverticulum63 occasional (7.5%) HP:0000015
29 high forehead63 occasional (7.5%) HP:0000348
30 abnormality of the pinna63 occasional (7.5%) HP:0000377
31 downslanted palpebral fissures63 occasional (7.5%) HP:0000494
32 pes planus63 occasional (7.5%) HP:0001763
33 coarse hair63 occasional (7.5%) HP:0002208
34 scoliosis63 occasional (7.5%) HP:0002650
35 osteolysis63 occasional (7.5%) HP:0002797
36 kyphosis63 occasional (7.5%) HP:0002808
37 genu valgum63 occasional (7.5%) HP:0002857
38 abnormality of the fibula63 occasional (7.5%) HP:0002991
39 abnormality of the tibia63 occasional (7.5%) HP:0002992
40 abnormality of the shoulder63 occasional (7.5%) HP:0003043
41 abnormality of the humerus63 occasional (7.5%) HP:0003063
42 abnormality of the hip bone63 occasional (7.5%) HP:0003272
43 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
44 hydronephrosis63 HP:0000126
45 high palate63 HP:0000218
46 narrow face63 HP:0000275
47 long face63 HP:0000276
48 convex nasal ridge63 HP:0000444
49 long neck63 HP:0000472
50 broad ribs63 HP:0000885
51 short clavicles63 HP:0000894
52 broad clavicles63 HP:0000916
53 osteoporosis63 HP:0000939
54 soft skin63 HP:0000977
55 capitate-hamate fusion63 HP:0001241
56 orthostatic hypotension63 HP:0001278
57 limited elbow extension63 HP:0001377
58 joint laxity63 HP:0001388
59 redundant skin63 HP:0001582
60 chronic diarrhea63 HP:0002028
61 hiatus hernia63 HP:0002036
62 coxa valga63 HP:0002673
63 bladder carcinoma63 HP:0002862
64 limited knee extension63 HP:0003066
65 pelvic bone exostoses63 HP:0003276
66 persistent open anterior fontanelle63 HP:0004474
67 carotid artery tortuosity63 HP:0005302
68 short humerus63 HP:0005792
69 ureteral obstruction63 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
CopperapprovedPhase 317215158-11-9, 7440-50-827099
Synonyms:
 
Copper
Cu
2MicronutrientsPhase 35802
3Trace ElementsPhase 35802
4histidineNutraceuticalPhase 342

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-Linked26
2 Occipital Horn Syndrome24

Anatomical Context for Occipital Horn Syndrome

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MalaCards organs/tissues related to Occipital Horn Syndrome:

35
Bone, Skin, Liver

Animal Models for Occipital Horn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Occipital Horn Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ATP7A, DBH, LOX, RHAG

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:

69
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, -2SNVPathogenicChr na, -1: -1
2ATP7ANM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu)SNVPathogenicrs151340631GRCh37Chr X, 77266713: 77266713
3ATP7AATP7A, 8-BP DEL, NT1552deletionPathogenicChr na, -1: -1
4ATP7AATP7A, IVS6DS, T-A, +6SNVPathogenicChr na, -1: -1
5ATP7AATP7A, 1-BP DEL, 4497GdeletionPathogenicChr na, -1: -1
6ATP7ANM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser)SNVPathogenicrs151340632GRCh37Chr X, 77298192: 77298192
7RHAGNM_000324.2(RHAG): c.194T> C (p.Phe65Ser)SNVPathogenicrs863225468GRCh38Chr 6, 49619326: 49619326
8RHAGNM_000324.2(RHAG): c.182T> G (p.Ile61Arg)SNVPathogenicrs863225469GRCh38Chr 6, 49619338: 49619338

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:00019749.5ATP7A, DBH
3locomotory behaviorGO:00076269.4ATP7A, DBH
4collagen fibril organizationGO:00301999.2ATP7A, LOX
5extracellular matrix organizationGO:00301989.1ATP7A, LOX

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055078.6ATP7A, DBH, LOX

Sources for Occipital Horn Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet