OHS
MCID: OCC006
MIFTS: 57

Occipital Horn Syndrome (OHS) malady

Skin diseases, Metabolic diseases, Fetal diseases categories

Summaries for Occipital Horn Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 intracranial aneurysm, 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 is 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:63 Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked... more...

Description from OMIM:46 304150

Aliases & Classifications for Occipital Horn Syndrome

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Sources:
60UMLS, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

occipital horn syndrome 42 20 46 44 48
cutis laxa x-linked 42 22
eds ix 42 48
ehlers-danlos syndrome, occipital horn type 42
ehlers-danlos syndrome type ix 48
ehlers-danlos syndrome, type 9 48
horner's syndrome pupil 60
ehlers-danlos syndrome 60
x-linked cutis laxa 48
stomatocytosis i 60
ohs 42


External Ids:

OMIM46 304150
MESH via Orphanet35 C537860
ICD10 via Orphanet26 E83.0
SNOMED-CT via Orphanet57 59399004
UMLS via Orphanet61 C0268353

Related Diseases for Occipital Horn Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Occipital Horn Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 277)
idRelated DiseaseScoreTop Affiliating Genes
1menkes disease31.0ATP7A, DBH, ELN, LOX
2intracranial aneurysm30.6ELN, LOX
3connective tissue disease30.5LOX, ELN, ATP7A
4ehlers-danlos syndrome30.4ELN
5mitral valve prolapse30.2DBH
6cutis laxa30.2LOX, ELN
7hypertension29.7DBH
8ehlers-danlos syndrome type iv11.3
9ehlers-danlos syndrome, hypermobility type11.1
10type iii ehlers-danlos syndrome11.1
11hypermobility syndrome11.0
12type vi ehlers-danlos syndrome11.0
13type i ehlers-danlos syndrome11.0
14ehlers-danlos syndrome, classic type11.0
15ehlers-danlos syndrome type viib10.7
16ehlers-danlos syndrome progeroid type10.7
17ehlers-danlos syndrome dermatosparaxis type10.7
18ehlers-danlos syndrome, musculocontractural type 210.7
19ehlers-danlos syndrome kyphoscoliotic type10.7
20ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
21ehlers-danlos syndrome arthrochalasia type10.6
22ehlers-danlos syndrome, kyphoscoliotic form10.6
23ehlers-danlos syndrome, periodontitis type10.6
24ehlers-danlos syndrome, fibronectinemic type10.6
25osteogenesis imperfecta10.6
26n syndrome10.6
27aortic aneurysm10.6
28spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
29ehlers-danlos syndrome, musculocontractural type 110.6
30ehlers-danlos syndrome dysfibronectinemic type10.5
31ehlers-danlos syndrome, progeroid type, 110.5
32ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
33x-linked ehlers-danlos syndrome10.5
34cervicitis10.5
35periodontitis10.5
36joint laxity, familial10.5
37autosomal recessive type iv ehlers-danlos syndrome10.5
38myocardial infarction10.5
39myopathy10.5
40ehlers-danlos syndrome type 510.5
41ehlers-danlos syndrome, cardiac valvular form10.5
42breast cancer10.4
43stomatocytosis i10.4
44autosomal dominant type iv ehlers-danlos syndrome10.4
45adult syndrome10.4
46polyneuropathy10.4
47ehlers–danlos syndrome, vascular type10.4
48osteogenesis imperfecta type i10.4
49image syndrome10.4
50ehlers-danlos syndrome beasley cohen type10.4

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



Diseases related to occipital horn syndrome

Clinical Features for Occipital Horn Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

304150

Clinical synopsis from OMIM:

304150

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Occipital Horn Syndrome:

id Genetic test Affiliating Genes
1 Occipital Horn Syndrome20
2 Cutis Laxa, X-Linked22

Anatomical Context for Occipital Horn Syndrome

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32MalaCards
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MalaCards organs/tissues related to Occipital Horn Syndrome:

32
Skin, Bone

Animal Models for Occipital Horn Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Occipital Horn Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7LOX, ATP7A, ELN
2MP:00053698.5ELN, ATP7A, LOX
3MP:00053858.1ELN, DBH, ATP7A, LOX
4MP:00053768.0ELN, DBH, ATP7A, LOX
5MP:00107688.0ELN, DBH, ATP7A, LOX

Publications for Occipital Horn Syndrome

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Genetic Variations for Occipital Horn Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Occipital Horn Syndrome:

62
id Symbol AA change Variation ID SNP ID
1ATP7Ap.Ser637LeuVAR_009999rs28936068
2ATP7Ap.Asn1304SerVAR_063883

Expression for genes affiliated with Occipital Horn Syndrome

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1BioGPS, 15Gene 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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53Reactome
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Pathways related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3ELN, LOX

Compounds for genes affiliated with Occipital Horn Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 2BitterDB, 49PharmGKB
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Compounds related to Occipital Horn Syndrome according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1beta-aminopropionitrile449.7ELN, LOX
2alpha-aminoadipic semialdehyde449.7ELN, LOX
3desmosine449.7ELN, LOX
4hydroxylysine449.7ELN, LOX
5pentosidine449.7ELN, LOX
6d penicillamine449.7ELN, LOX
7pyridinoline449.7LOX, ELN
8deoxypyridinoline449.7ELN, LOX
9hydroxyproline44 11 2411.6LOX, ELN
10procollagen449.6LOX, ELN
11bleomycin44 1110.6ELN, LOX
12suramin44 28 1111.6ELN, LOX
13glycosaminoglycan449.5LOX, ELN
14carbon449.4LOX, ELN
15tyramine44 28 2411.4DBH, LOX
16l-amino acid449.4DBH, LOX
17valine449.3ELN, LOX
18formaldehyde44 2410.2ELN, DBH
19chloramphenicol44 2 1111.1ELN, DBH
20phosphatidylcholine449.0ELN, DBH
21nacl449.0ATP7A, DBH, ELN
22amine448.9LOX, DBH, ELN
23ascorbic acid44 249.9ELN, DBH, LOX
24lysine448.8ELN, DBH, LOX
25lactate448.8LOX, DBH, ELN
26superoxide44 249.8DBH, ATP7A, LOX
27h2o2448.8ELN, DBH, LOX
28dexamethasone44 49 28 1111.8ELN, DBH, LOX
29phenylalanine448.7DBH, LOX
30oxygen44 249.7DBH, ATP7A, LOX
31cysteine448.7LOX, DBH, ELN
32copper44 249.4ELN, DBH, ATP7A, LOX

GO Terms for genes affiliated with Occipital Horn Syndrome

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16Gene Ontology
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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:0424219.2DBH, ATP7A
3collagen fibril organizationGO:0301999.2ATP7A, LOX
4locomotory behaviorGO:0076269.1DBH, ATP7A
5blood vessel developmentGO:0015689.0ATP7A, LOX
6extracellular matrix organizationGO:0301988.8LOX, ATP7A, 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:0055078.5DBH, ATP7A, LOX

Products for genes affiliated with Occipital Horn Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Occipital Horn Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet