MCID: OCC006
MIFTS: 55

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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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Occipital Horn Syndrome, Aliases & Descriptions:

Name: Occipital Horn Syndrome 45 10 41 20 43 47
X-Linked Cutis Laxa 41 47 22
Ehlers-Danlos Syndrome, Type 9 41 47
Ehlers-Danlos Syndrome Type Ix 41 47
Eds Ix 41 47
 
Ehlers-Danlos Syndrome, Occipital Horn Type 41
Cutis Laxa X-Linked 41
Stomatocytosis I 60
Ohs 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 304150
Orphanet47 198
MESH via Orphanet34 C537860
ICD10 via Orphanet26 E83.0
UMLS via Orphanet61 C0268353

Summaries for Occipital Horn Syndrome

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NIH Rare Diseases:41 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:45 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias,... (304150) more...

Wikipedia:63 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

Symptoms:

 47 (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:

31
Skin, Bone, Liver

Animal Models for Occipital Horn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Occipital Horn Syndrome:

35
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)
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
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
17
Metabolic and molecular bases of Menkes disease and occipital horn syndrome. (10463276)
1998
18
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. (9246006)
1997
19
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. (8923001)
1996
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
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. (7887410)
1995
22
Menkes disease and occipital horn syndrome. (7583733)
1995
23
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. (7842019)
1994
24
Occipital horn syndrome: report of a patient and review of the literature. (8149649)
1994
25
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. (8099605)
1993
26
Occipital horn syndrome. Additional radiographic findings in two new cases. (1408447)
1992
27
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:

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

Clinvar genetic disease variations for Occipital Horn Syndrome:

6
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
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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Compounds related to Occipital Horn Syndrome according to GeneCards Suite gene sharing:

(show all 41)
idCompoundScoreTop Affiliating Genes
1beta-aminopropionitrile439.8ELN, LOX
2alpha-aminoadipic semialdehyde439.8ELN, LOX
3desmosine439.7LOX, ELN
4hydroxylysine439.7ELN, LOX
5pentosidine439.7LOX, ELN
6d penicillamine439.7LOX, ELN
7pyridinoline439.7ELN, LOX
8deoxypyridinoline439.7ELN, LOX
9hydroxyproline43 24 1211.7ELN, LOX
10procollagen439.7LOX, ELN
11bleomycin43 1210.7ELN, LOX
12suramin43 28 1211.7ELN, LOX
13glycosaminoglycan439.6LOX, ELN
14carbon439.6ELN, LOX
15valine439.6LOX, ELN
16tyramine43 28 2411.4LOX, DBH
17l-amino acid439.4DBH, LOX
18formaldehyde43 2410.4ELN, DBH
19n acetylcysteine439.4ELN, LOX
20phosphatidylcholine439.4ELN, DBH
21indomethacin43 28 59 1212.3ELN, LOX
22chloramphenicol43 2 49 1212.3DBH, ELN
23paraffin439.3ELN, LOX
24manganese43 2410.3ELN, DBH
25phenylalanine439.3LOX, DBH
26gaba439.2LOX, DBH
27nacl439.0ELN, DBH, ATP7A
28amine438.9DBH, LOX, ELN
29histidine438.9DBH, LOX
30ascorbic acid43 249.9ELN, LOX, DBH
31lysine438.9ELN, LOX, DBH
32lactate438.9DBH, LOX, ELN
33superoxide43 249.9LOX, DBH, ATP7A
34h2o2438.9DBH, LOX, ELN
35dexamethasone43 49 28 1211.9DBH, LOX, ELN
36Water248.9LOX, DBH, ATP7A
37histamine43 28 2410.8ELN, DBH
38oxygen43 249.8LOX, DBH, ATP7A
39cysteine438.8DBH, LOX, ELN
40serine438.7ATP7A, DBH, ELN
41copper43 249.4ELN, LOX, DBH, ATP7A

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:00482519.4ATP7A, LOX
2norepinephrine biosynthetic processGO:00424219.2ATP7A, DBH
3collagen fibril organizationGO:00301999.2LOX, ATP7A
4locomotory behaviorGO:00076269.1ATP7A, DBH
5blood vessel developmentGO:00015689.0ATP7A, LOX
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

Products for genes affiliated with Occipital Horn Syndrome

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Sources for Occipital Horn Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet