OHS
MCID: OCC006
MIFTS: 62

Occipital Horn Syndrome (OHS) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases categories

Summaries for Occipital Horn Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Occipital Horn Syndrome, also known as cutis laxa x-linked, is related to menkes disease and cutis laxa, and has symptoms including scoliosis, kyphosis and narrow/sloping shoulders. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase, Cu++ transporting, alpha polypeptide), and among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. The compounds beta-aminopropionitrile and alpha-aminoadipic semialdehyde have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related mouse phenotypes are respiratory system and muscle.

Wikipedia:66 Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked... more...

Description from OMIM:48 304150

Aliases & Classifications for Occipital Horn Syndrome

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63UMLS, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 46Novoseek, 50Orphanet, 23GTR, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

50
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

occipital horn syndrome 44 21 48 46 50
cutis laxa x-linked 44 23
eds ix 44 50
ehlers-danlos syndrome, occipital horn type 44
ehlers-danlos syndrome type ix 50
ehlers-danlos syndrome, type 9 50
horner's syndrome pupil 63
ehlers-danlos syndrome 63
x-linked cutis laxa 50
stomatocytosis i 63
ohs 44


External Ids:

OMIM48 304150
MESH via Orphanet37 C537860
ICD10 via Orphanet27 E83.0
SNOMED-CT via Orphanet60 59399004
UMLS via Orphanet64 C0268353

Related Diseases for Occipital Horn Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

304150

Clinical features from OMIM:

304150

Symptoms:

50 (show all 49)
  • scoliosis
  • kyphosis
  • narrow/sloping shoulders
  • clavicle absent/abnormal
  • prominent/bat ears
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • high forehead
  • hypothermia
  • elbow dislocation
  • synostosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • inguinal/inguinoscrotal/crural hernia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • osteolysis/osteoclasia/bone destruction/erosions
  • recurrent urinary infections
  • bladder/vesical diverticulum
  • coarse/thick hair
  • flat foot
  • genu valgum
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hypotonia
  • varices/varicous veins/venous insufficiency
  • long philtrum
  • anomalies of nose and olfaction
  • x-linked recessive inheritance
  • hyperextensible joints/articular hyperlaxity
  • exostoses
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • intracranial/cerebral calcifications
  • hyperelastic skin/cutaneous hyperlaxity
  • face/facial anomalies
  • large fontanelle/delayed fontanelle closure
  • high vaulted/narrow palate
  • narrow rib cage/thorax
  • pectus carinatum
  • bruisability
  • arterial aneurism (excluding aorta)
  • hepatitis/icterus/cholestasis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • abnormal scarring/cheloids/hypertrophic scars
  • short hand/brachydactyly
  • wrist/carpal anomalies
  • platyspondyly
  • pectus excavatum
  • skull/cranial anomalies

Drugs & Therapeutics for Occipital Horn Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Occipital Horn Syndrome

Drug clinical trials:

Search ClinicalTrials for Occipital Horn Syndrome

Search NIH Clinical Center for Occipital Horn Syndrome

Search CenterWatch for Occipital Horn Syndrome

Genetic Tests for Occipital Horn Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Occipital Horn Syndrome:

id Genetic test Affiliating Genes
1 Occipital Horn Syndrome21
2 Cutis Laxa, X-Linked23

Anatomical Context for Occipital Horn Syndrome

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34MalaCards
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MalaCards organs/tissues related to Occipital Horn Syndrome:

34
Skin, Bone

Animal Models for Occipital Horn Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Occipital Horn Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9LOX, ATP7A, ELN
2MP:00053698.7ELN, LOX, ATP7A
3MP:00107718.5LOX, DBH, ATP7A
4MP:00053908.3ELN, ATP7A, DBH
5MP:00053858.1DBH, ATP7A, LOX, ELN
6MP:00053768.1ATP7A, DBH, ELN, LOX
7MP:00107688.0ATP7A, ELN, LOX, DBH

Publications for Occipital Horn Syndrome

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53PubMed
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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
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. (8923001)
1996
21
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
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Occipital Horn Syndrome:

65
id Symbol AA change Variation ID SNP ID
1ATP7Ap.Ser637LeuVAR_009999rs28936068
2ATP7Ap.Asn1304SerVAR_063883

Clinvar genetic disease variations for Occipital Horn Syndrome:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Occipital Horn Syndrome

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

Pathways for genes affiliated with Occipital Horn Syndrome

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51PathCards, 56Reactome
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Pathways related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3ELN, LOX
2
Show member pathways
9.3ELN, LOX

Compounds for genes affiliated with Occipital Horn Syndrome

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 3BitterDB, 52PharmGKB
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Compounds related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1beta-aminopropionitrile469.8ELN, LOX
2alpha-aminoadipic semialdehyde469.8ELN, LOX
3desmosine469.7LOX, ELN
4hydroxylysine469.7ELN, LOX
5pentosidine469.7LOX, ELN
6d penicillamine469.7LOX, ELN
7pyridinoline469.7ELN, LOX
8deoxypyridinoline469.7ELN, LOX
9hydroxyproline46 25 1211.7ELN, LOX
10procollagen469.7LOX, ELN
11bleomycin46 1210.7ELN, LOX
12suramin46 30 1211.7ELN, LOX
13glycosaminoglycan469.6LOX, ELN
14carbon469.6ELN, LOX
15valine469.6LOX, ELN
16tyramine46 30 2511.4LOX, DBH
17l-amino acid469.4DBH, LOX
18formaldehyde46 2510.4ELN, DBH
19n acetylcysteine469.4ELN, LOX
20phosphatidylcholine469.4ELN, DBH
21indomethacin46 30 62 1212.3ELN, LOX
22chloramphenicol46 3 52 1212.3DBH, ELN
23paraffin469.3ELN, LOX
24manganese46 2510.3ELN, DBH
25phenylalanine469.3LOX, DBH
26gaba469.2LOX, DBH
27nacl469.0ELN, DBH, ATP7A
28amine468.9DBH, LOX, ELN
29histidine468.9DBH, LOX
30ascorbic acid46 259.9ELN, LOX, DBH
31lysine468.9ELN, LOX, DBH
32lactate468.9DBH, LOX, ELN
33superoxide46 259.9LOX, DBH, ATP7A
34h2o2468.9DBH, LOX, ELN
35dexamethasone46 52 30 1211.9DBH, LOX, ELN
36Water258.9LOX, DBH, ATP7A
37histamine46 30 2510.8ELN, DBH
38oxygen46 259.8LOX, DBH, ATP7A
39cysteine468.8DBH, LOX, ELN
40serine468.7ATP7A, DBH, ELN
41copper46 259.4ELN, LOX, DBH, ATP7A

GO Terms for genes affiliated with Occipital Horn Syndrome

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17Gene Ontology
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Cellular components related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5ELN, LOX, DBH

Biological processes related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1elastic fiber assemblyGO:0482519.4ATP7A, LOX
2norepinephrine biosynthetic processGO:0424219.2ATP7A, DBH
3collagen fibril organizationGO:0301999.2LOX, ATP7A
4locomotory behaviorGO:0076269.1ATP7A, DBH
5blood vessel developmentGO:0015689.0ATP7A, LOX
6extracellular matrix organizationGO:0301988.8ATP7A, LOX, ELN
7blood vessel remodelingGO:0019748.8ELN, DBH, ATP7A

Molecular functions related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055078.5LOX, DBH, ATP7A

Products for genes affiliated with Occipital Horn Syndrome

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Sources for Occipital Horn Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet