MCID: OCC006
MIFTS: 45

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 49 11 45 22 47 51 67
Cutis Laxa X-Linked 45 67
X-Linked Cutis Laxa 51 24
Eds Ix 45 51
Ohs 45 67
Ehlers-Danlos Syndrome, Occipital Horn Type 45
 
Ehlers-Danlos Syndrome Occipital Horn Type 67
Ehlers-Danlos Syndrome Type Ix 51
Ehlers-Danlos Syndrome Type 9 51
Cutis Laxa, X-Linked 22
Stomatocytosis I 65
Eds9 67

Characteristics:

Orphanet epidemiological data:

51
occipital horn syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

HPO:

61
occipital horn syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 304150
Orphanet51 198
ICD10 via Orphanet28 E83.0
MESH via Orphanet37 C537860
UMLS via Orphanet66 C0268353
MedGen34 C0268353
MeSH36 D003483
UMLS65 C1861455

Summaries for Occipital Horn Syndrome

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NIH Rare Diseases:45 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 cutis laxa x-linked, is related to stomatocytosis i and exostoses, multiple, type 1, and has symptoms including exostoses, cognitive impairment and cerebral calcification. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase Copper Transporting Alpha). Affiliated tissues include bone, skin and liver.

OMIM:49 Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias,... (304150) more...

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 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:

 51 (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 82)
id Description Frequency HPO Source Accession
1 exostoses hallmark (90%) HP:0100777
2 cognitive impairment hallmark (90%) HP:0100543
3 cerebral calcification hallmark (90%) HP:0002514
4 joint hypermobility hallmark (90%) HP:0001382
5 hyperextensible skin hallmark (90%) HP:0000974
6 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
7 synostosis of joints typical (50%) HP:0100240
8 feeding difficulties in infancy typical (50%) HP:0008872
9 venous insufficiency typical (50%) HP:0005293
10 reduced bone mineral density typical (50%) HP:0004349
11 elbow dislocation typical (50%) HP:0003042
12 abnormality of the wrist typical (50%) HP:0003019
13 aneurysm typical (50%) HP:0002617
14 hypothermia typical (50%) HP:0002045
15 abnormality of the liver typical (50%) HP:0001392
16 muscular hypotonia typical (50%) HP:0001252
17 brachydactyly syndrome typical (50%) HP:0001156
18 atypical scarring of skin typical (50%) HP:0000987
19 bruising susceptibility typical (50%) HP:0000978
20 platyspondyly typical (50%) HP:0000926
21 narrow chest typical (50%) HP:0000774
22 pectus carinatum typical (50%) HP:0000768
23 pectus excavatum typical (50%) HP:0000767
24 abnormality of the nose typical (50%) HP:0000366
25 long philtrum typical (50%) HP:0000343
26 abnormality of the palate typical (50%) HP:0000174
27 hernia of the abdominal wall occasional (7.5%) HP:0004299
28 abnormality of the hip bone occasional (7.5%) HP:0003272
29 abnormality of the humerus occasional (7.5%) HP:0003063
30 abnormality of the shoulder occasional (7.5%) HP:0003043
31 abnormality of the tibia occasional (7.5%) HP:0002992
32 abnormality of the fibula occasional (7.5%) HP:0002991
33 genu valgum occasional (7.5%) HP:0002857
34 kyphosis occasional (7.5%) HP:0002808
35 osteolysis occasional (7.5%) HP:0002797
36 scoliosis occasional (7.5%) HP:0002650
37 coarse hair occasional (7.5%) HP:0002208
38 pes planus occasional (7.5%) HP:0001763
39 downslanted palpebral fissures occasional (7.5%) HP:0000494
40 abnormality of the pinna occasional (7.5%) HP:0000377
41 high forehead occasional (7.5%) HP:0000348
42 bladder diverticulum occasional (7.5%) HP:0000015
43 recurrent urinary tract infections occasional (7.5%) HP:0000010
44 ureteral obstruction HP:0006000
45 short humerus HP:0005792
46 carotid artery tortuosity HP:0005302
47 persistent open anterior fontanelle HP:0004474
48 pelvic bone exostoses HP:0003276
49 limited knee extension HP:0003066
50 bladder carcinoma HP:0002862
51 genu valgum HP:0002857
52 kyphosis HP:0002808
53 coxa valga HP:0002673
54 coarse hair HP:0002208
55 hiatus hernia HP:0002036
56 chronic diarrhea HP:0002028
57 pes planus HP:0001763
58 redundant skin HP:0001582
59 joint laxity HP:0001388
60 limited elbow extension HP:0001377
61 orthostatic hypotension HP:0001278
62 capitate-hamate fusion HP:0001241
63 bruising susceptibility HP:0000978
64 soft skin HP:0000977
65 hyperextensible skin HP:0000974
66 osteoporosis HP:0000939
67 platyspondyly HP:0000926
68 broad clavicles HP:0000916
69 short clavicles HP:0000894
70 broad ribs HP:0000885
71 narrow chest HP:0000774
72 pectus carinatum HP:0000768
73 pectus excavatum HP:0000767
74 long neck HP:0000472
75 convex nasal ridge HP:0000444
76 high forehead HP:0000348
77 long philtrum HP:0000343
78 long face HP:0000276
79 narrow face HP:0000275
80 high palate HP:0000218
81 hydronephrosis HP:0000126
82 bladder diverticulum HP:0000015

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
1MicronutrientsPhase 33901
2
CopperPhase 31587440-50-827099
Synonyms:
 
Copper
Cu
3Trace ElementsPhase 33900
4histidineNutraceuticalPhase 336

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 Occipital Horn Syndrome22

Anatomical Context for Occipital Horn Syndrome

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MalaCards organs/tissues related to Occipital Horn Syndrome:

33
Bone, Skin, Liver, Monocytes, Breast, Endothelial

Animal Models for Occipital Horn Syndrome or affiliated genes

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Publications for Occipital Horn Syndrome

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Articles related to Occipital Horn Syndrome:

(show all 28)
idTitleAuthorsYear
1
Botulinum toxin and rehabilitation treatment in inclusion body myositis for severe oropharyngeal dysphagia. (27098244)
2016
2
Microscopic colitis: a misnomer for a clearly defined entity? (25961440)
2015
3
Pulmonary Toxocariasis: Initial and Follow-Up CT Findings in 63 Patients. (26001229)
2015
4
Serological proteome analysis of Corynebacterium pseudotuberculosis isolated from different hosts reveals novel candidates for prophylactics to control caseous lymphadenitis. (25236983)
2014
5
Sociocultural determinants of anticipated vaccine acceptance for acute watery diarrhea in early childhood in Katanga Province, Democratic Republic of Congo. (23878187)
2013
6
Coronary stenosis: Morphologic index characterized by using CT angiography correlates with fractional flow reserve and is associated with hemodynamic status. (23674787)
2013
7
Peptides that form I^-sheets on hydrophobic surfaces accelerate surface-induced insulin amyloidal aggregation. (23510797)
2013
8
Overexpression of 15-lipoxygenase-1 in oxygen-induced ischemic retinopathy inhibits retinal neovascularization via downregulation of vascular endothelial growth factor-A expression. (23233787)
2012
9
Rapid recurrence of cystic adventitial disease in femoral artery and an etiologic consideration for the cyst. (21609801)
2011
10
Association of haplotypes of inflammation-related genes with gastric preneoplastic lesions in African Americans and Caucasians. (20473875)
2011
11
Elevated serum immunoglobulin G titers against Chlamydia pneumoniae in primary open-angle glaucoma patients without systemic disease. (20164795)
2010
12
Elevated IL-13Ralpha2 in intestinal epithelial cells from ulcerative colitis or colorectal cancer initiates MAPK pathway. (20014020)
2010
13
Kalopanaxsaponin A inhibits PMA-induced invasion by reducing matrix metalloproteinase-9 via PI3K/Akt- and PKCdelta-mediated signaling in MCF-7 human breast cancer cells. (19420016)
2009
14
Phosphorylation of ectopically expressed L-plastin enhances invasiveness of human melanoma cells. (17290393)
2007
15
What's your assessment? Pyogenic granuloma. (17330553)
2007
16
Adverse events of MVAC chemotherapy in patients with advanced urothelial cancer of the bladder. (17515069)
2007
17
Paecilomyces lilacinus scleritis with secondary keratitis. (17251822)
2007
18
Mesenchymal chondrosarcoma treated with total en bloc spondylectomy for 2 consecutive lumbar vertebrae resulted in continuous disease-free survival for more than 5 years: case report. (16622368)
2006
19
Impact of the CYP2D6 ultra-rapid metabolizer genotype on doxepin pharmacokinetics and serotonin in platelets. (16007002)
2005
20
The potential impact of drug transporters on nucleoside-analog-based antiviral chemotherapy. (15026196)
2004
21
A novel role for erythropoietin during fibrin-induced wound-healing response. (12937140)
2003
22
Progressive stapedial fixation in Beckwith-Wiedemann syndrome. (14568801)
2003
23
Paclitaxel and SN-38 overcome cisplatin resistance of ovarian cancer cell lines by down-regulating the influx and efflux system of cisplatin. (11714450)
2001
24
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. (11826361)
2001
25
Acid regulates inflammatory response in a rat model of induction of gastric ulcer recurrence by interleukin 1beta. (11358894)
2001
26
Effects of lipopolysaccharide and cytokines on production of RANTES by cultured human endometrial stromal cells. (10694272)
2000
27
Signal transduction pathways involved in tumour necrosis factor secretion by Plasmodium falciparum-stimulated human monocytes. (7821969)
1994
28
A CASE OF PERIARTERITIS NODOSA WITH SKIN MANIFESTATIONS, PROBABLY PROVOKED BY IODIDE ADMINISTRATION. (14088647)
1963

Variations for Occipital Horn Syndrome

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

67
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, -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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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:000197410.0ATP7A, DBH
2extracellular matrix organizationGO:00301989.2ATP7A, LOX
3small molecule metabolic processGO:00442818.5DBH, MVK, RHAG

Sources for Occipital Horn Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet