Occipital Horn Syndrome malady

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

Aliases & Classifications for Occipital Horn Syndrome

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46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 61UMLS, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 46 9 42 20 44 48
X-Linked Cutis Laxa 42 48 22
Ehlers-Danlos Syndrome Type Ix 42 48
Ehlers-Danlos Syndrome, Type 9 42 48
Eds Ix 42 48
Ehlers-Danlos Syndrome, Occipital Horn Type 42
Cutis Laxa X-Linked 42
Stomatocytosis I 61
Ohs 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 304150
Orphanet48 198
MESH via Orphanet34 C537860
ICD10 via Orphanet26 E83.0
UMLS via Orphanet62 C0268353

Summaries for Occipital Horn Syndrome

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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 based summary: Occipital Horn Syndrome, also known as x-linked cutis laxa, is related to cutis laxa and aneurysm, 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, 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, bone and liver, and related mouse phenotypes are respiratory system and muscle.

OMIM:46 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias,... (304150) more...

Wikipedia:64 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:


Clinical features from OMIM:



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

HPO human phenotypes related to Occipital Horn Syndrome:

(show all 84)
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 abnormality of the clavicles occasional (7.5%) HP:0000889
33 pes planus occasional (7.5%) HP:0001763
34 coarse hair occasional (7.5%) HP:0002208
35 scoliosis occasional (7.5%) HP:0002650
36 osteolysis occasional (7.5%) HP:0002797
37 kyphosis occasional (7.5%) HP:0002808
38 genu valgum occasional (7.5%) HP:0002857
39 abnormality of the fibula occasional (7.5%) HP:0002991
40 abnormality of the tibia occasional (7.5%) HP:0002992
41 abnormality of the shoulder occasional (7.5%) HP:0003043
42 abnormality of the humerus occasional (7.5%) HP:0003063
43 abnormality of the hip bone occasional (7.5%) HP:0003272
44 hernia of the abdominal wall occasional (7.5%) HP:0004299
45 bladder diverticulum HP:0000015
46 hydronephrosis HP:0000126
47 high palate HP:0000218
48 narrow face HP:0000275
49 long face HP:0000276
50 long philtrum HP:0000343
51 high forehead HP:0000348
52 convex nasal ridge HP:0000444
53 long neck HP:0000472
54 pectus excavatum HP:0000767
55 pectus carinatum HP:0000768
56 narrow chest HP:0000774
57 broad ribs HP:0000885
58 short clavicles HP:0000894
59 broad clavicles HP:0000916
60 platyspondyly HP:0000926
61 osteoporosis HP:0000939
62 hyperextensible skin HP:0000974
63 soft skin HP:0000977
64 bruising susceptibility HP:0000978
65 capitate-hamate fusion HP:0001241
66 orthostatic hypotension HP:0001278
67 limited elbow extension HP:0001377
68 joint laxity HP:0001388
69 x-linked recessive inheritance HP:0001419
70 redundant skin HP:0001582
71 pes planus HP:0001763
72 chronic diarrhea HP:0002028
73 hiatus hernia HP:0002036
74 coarse hair HP:0002208
75 coxa valga HP:0002673
76 kyphosis HP:0002808
77 genu valgum HP:0002857
78 bladder carcinoma HP:0002862
79 limited knee extension HP:0003066
80 pelvic exostoses HP:0003276
81 persistent open anterior fontanelle HP:0004474
82 carotid artery tortuosity HP:0005302
83 short humerus HP:0005792
84 ureteral obstruction HP:0006000

Drugs & Therapeutics for Occipital Horn Syndrome

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Drug clinical trials:

Search ClinicalTrials for Occipital Horn Syndrome

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 Occipital Horn Syndrome20
2 Cutis Laxa, X-Linked22

Anatomical Context for Occipital Horn Syndrome

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MalaCards organs/tissues related to Occipital Horn Syndrome:

Skin, Bone, Liver

Animal Models for Occipital Horn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Occipital Horn Syndrome:

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

Publications for Occipital Horn Syndrome

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Articles related to Occipital Horn Syndrome:

(show all 27)
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. (24002164)
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. (23281160)
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome. (22575542)
Occipital horn syndrome in a woman: skeletal radiological findings. (21553336)
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. (17496194)
Functional copper transport explains neurologic sparing in occipital horn syndrome. (17108763)
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)
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. (12537648)
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (11241493)
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. (11936860)
Neuropathology of occipital horn syndrome. (11669352)
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. (11431706)
Intracranial and extracranial MR angiography in occipital horn syndrome. (11044951)
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. (10739752)
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. (9880610)
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)
Metabolic and molecular bases of Menkes disease and occipital horn syndrome. (10463276)
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. (9246006)
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. (8923001)
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)
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. (7887410)
Menkes disease and occipital horn syndrome. (7583733)
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. (7842019)
Occipital horn syndrome: report of a patient and review of the literature. (8149649)
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. (8099605)
Occipital horn syndrome. Additional radiographic findings in two new cases. (1408447)
Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case]. (1682078)

Variations for Occipital Horn Syndrome

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Occipital Horn Syndrome:

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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Pathways related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
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Compounds for genes affiliated with Occipital Horn Syndrome

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Compounds related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

(show all 41)
idCompoundScoreTop Affiliating Genes
1beta-aminopropionitrile449.8LOX, ELN
2alpha-aminoadipic semialdehyde449.8ELN, LOX
3desmosine449.7LOX, ELN
4hydroxylysine449.7LOX, ELN
5pentosidine449.7LOX, ELN
6d penicillamine449.7ELN, LOX
7pyridinoline449.7LOX, ELN
8deoxypyridinoline449.7LOX, ELN
9hydroxyproline44 24 1111.7LOX, ELN
10procollagen449.7LOX, ELN
11bleomycin44 1110.7LOX, ELN
12suramin44 28 1111.7LOX, ELN
13glycosaminoglycan449.6LOX, ELN
14carbon449.6ELN, LOX
15valine449.6ELN, LOX
16tyramine44 28 2411.4DBH, LOX
17l-amino acid449.4LOX, DBH
18formaldehyde44 2410.4ELN, DBH
19n acetylcysteine449.4LOX, ELN
20phosphatidylcholine449.4DBH, ELN
21indomethacin44 28 60 1112.3ELN, LOX
22chloramphenicol44 1 50 1112.3ELN, DBH
23paraffin449.3ELN, LOX
24manganese44 2410.3ELN, DBH
25phenylalanine449.3DBH, LOX
26gaba449.2LOX, DBH
27nacl449.0ELN, DBH, ATP7A
28amine448.9DBH, ELN, LOX
29histidine448.9LOX, DBH
30ascorbic acid44 249.9LOX, ELN, DBH
31lysine448.9ELN, LOX, DBH
32lactate448.9DBH, LOX, ELN
33superoxide44 249.9LOX, ATP7A, DBH
34h2o2448.9DBH, LOX, ELN
35dexamethasone44 50 28 1111.9DBH, LOX, ELN
36Water248.9ATP7A, LOX, DBH
37histamine44 28 2410.8DBH, ELN
38oxygen44 249.8ATP7A, DBH, LOX
39cysteine448.8LOX, ELN, DBH
40serine448.7DBH, ELN, ATP7A
41copper44 249.4LOX, ATP7A, DBH, ELN

GO Terms for genes affiliated with Occipital Horn Syndrome

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Cellular components related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5ELN, LOX, DBH

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1elastic fiber assemblyGO:00482519.4LOX, ATP7A
2norepinephrine biosynthetic processGO:00424219.2DBH, ATP7A
3blood vessel developmentGO:00015689.2LOX, ATP7A
4locomotory behaviorGO:00076269.1DBH, ATP7A
5collagen fibril organizationGO:00301999.0LOX, ATP7A
6extracellular matrix organizationGO:00301988.8ATP7A, LOX, ELN
7blood vessel remodelingGO:00019748.8ELN, DBH, ATP7A

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055078.5LOX, DBH, ATP7A

Sources for Occipital Horn Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet