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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 52 48 24 54 70 12 50
X-Linked Cutis Laxa 54 27
Cutis Laxa X-Linked 48 70
Ohs 48 70
Ehlers-Danlos Syndrome Occipital Horn Type 70
Ehlers-Danlos Syndrome Type Ix 54
 
Ehlers-Danlos Syndrome Type 9 54
Cutis Laxa, X-Linked 24
Stomatocytosis I 68
Eds Ix 54
Eds9 70

Characteristics:

Orphanet epidemiological data:

54
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

HPO:

64
occipital horn syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 304150
Orphanet54 ORPHA198
ICD10 via Orphanet31 E83.0
MESH via Orphanet40 C537860
UMLS via Orphanet69 C0268353
MedGen37 C0268353
MeSH39 D003483

Summaries for Occipital Horn Syndrome

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NIH Rare Diseases:48 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.

UniProtKB/Swiss-Prot:70 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:52 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias,... (304150) more...

Wikipedia:71 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 & Phenotypes 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:

 64 (show all 69)
id Description HPO Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
2 hyperextensible skin64 hallmark (90%) HP:0000974
3 joint hypermobility64 hallmark (90%) HP:0001382
4 cerebral calcification64 hallmark (90%) HP:0002514
5 cognitive impairment64 hallmark (90%) HP:0100543
6 exostoses64 hallmark (90%) HP:0100777
7 abnormality of the palate64 typical (50%) HP:0000174
8 long philtrum64 typical (50%) HP:0000343
9 abnormality of the nose64 typical (50%) HP:0000366
10 pectus excavatum64 typical (50%) HP:0000767
11 pectus carinatum64 typical (50%) HP:0000768
12 narrow chest64 typical (50%) HP:0000774
13 platyspondyly64 typical (50%) HP:0000926
14 bruising susceptibility64 typical (50%) HP:0000978
15 atypical scarring of skin64 typical (50%) HP:0000987
16 brachydactyly syndrome64 typical (50%) HP:0001156
17 muscular hypotonia64 typical (50%) HP:0001252
18 abnormality of the liver64 typical (50%) HP:0001392
19 hypothermia64 typical (50%) HP:0002045
20 aneurysm64 typical (50%) HP:0002617
21 abnormality of the wrist64 typical (50%) HP:0003019
22 elbow dislocation64 typical (50%) HP:0003042
23 reduced bone mineral density64 typical (50%) HP:0004349
24 venous insufficiency64 typical (50%) HP:0005293
25 feeding difficulties in infancy64 typical (50%) HP:0008872
26 synostosis of joints64 typical (50%) HP:0100240
27 recurrent urinary tract infections64 occasional (7.5%) HP:0000010
28 bladder diverticulum64 occasional (7.5%) HP:0000015
29 high forehead64 occasional (7.5%) HP:0000348
30 abnormality of the pinna64 occasional (7.5%) HP:0000377
31 downslanted palpebral fissures64 occasional (7.5%) HP:0000494
32 pes planus64 occasional (7.5%) HP:0001763
33 coarse hair64 occasional (7.5%) HP:0002208
34 scoliosis64 occasional (7.5%) HP:0002650
35 osteolysis64 occasional (7.5%) HP:0002797
36 kyphosis64 occasional (7.5%) HP:0002808
37 genu valgum64 occasional (7.5%) HP:0002857
38 abnormality of the fibula64 occasional (7.5%) HP:0002991
39 abnormality of the tibia64 occasional (7.5%) HP:0002992
40 abnormality of the shoulder64 occasional (7.5%) HP:0003043
41 abnormality of the humerus64 occasional (7.5%) HP:0003063
42 abnormality of the hip bone64 occasional (7.5%) HP:0003272
43 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
44 hydronephrosis64 HP:0000126
45 high palate64 HP:0000218
46 narrow face64 HP:0000275
47 long face64 HP:0000276
48 convex nasal ridge64 HP:0000444
49 long neck64 HP:0000472
50 broad ribs64 HP:0000885
51 short clavicles64 HP:0000894
52 broad clavicles64 HP:0000916
53 osteoporosis64 HP:0000939
54 soft skin64 HP:0000977
55 capitate-hamate fusion64 HP:0001241
56 orthostatic hypotension64 HP:0001278
57 limited elbow extension64 HP:0001377
58 joint laxity64 HP:0001388
59 redundant skin64 HP:0001582
60 chronic diarrhea64 HP:0002028
61 hiatus hernia64 HP:0002036
62 coxa valga64 HP:0002673
63 bladder carcinoma64 HP:0002862
64 limited knee extension64 HP:0003066
65 pelvic bone exostoses64 HP:0003276
66 persistent open anterior fontanelle64 HP:0004474
67 carotid artery tortuosity64 HP:0005302
68 short humerus64 HP:0005792
69 ureteral obstruction64 HP:0006000

MGI Mouse Phenotypes related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ATP7A, DBH, LOX, RHAG

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-Linked27
2 Occipital Horn Syndrome24

Anatomical Context for Occipital Horn Syndrome

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MalaCards organs/tissues related to Occipital Horn Syndrome:

36
Bone, Skin, Liver

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:

70
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
1blood vessel remodelingGO:000197410.1ATP7A, DBH
2collagen fibril organizationGO:00301999.8ATP7A, LOX
3elastic fiber assemblyGO:00482519.7ATP7A, LOX
4extracellular matrix organizationGO:00301989.6ATP7A, LOX
5locomotory behaviorGO:00076269.4ATP7A, DBH

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet