MCID: OCC006
MIFTS: 47

Occipital Horn Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Occipital Horn Syndrome

MalaCards integrated aliases for Occipital Horn Syndrome:

Name: Occipital Horn Syndrome 54 50 24 56 71 13 52
Cutis Laxa, X-Linked 24 29
Cutis Laxa X-Linked 50 71
Ohs 50 71
Ehlers-Danlos Syndrome Occipital Horn Type 71
Ehlers-Danlos Syndrome Type Ix 56
Ehlers-Danlos Syndrome Type 9 56
X-Linked Cutis Laxa 56
Eds Ix 56
Eds9 71

Characteristics:

Orphanet epidemiological data:

56
occipital horn syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

54
Inheritance:
x-linked recessive


HPO:

32
occipital horn syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Occipital Horn Syndrome

NIH Rare Diseases : 50 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 menkes disease and cutis laxa, and has symptoms including high forehead, long face and coxa valga. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase Copper Transporting Alpha). The drugs Copper and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are cardiovascular system and integument

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). (304150)

Wikipedia : 72 Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked... more...

Related Diseases for Occipital Horn Syndrome

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



Diseases related to Occipital Horn Syndrome

Symptoms & Phenotypes for Occipital Horn Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

Skeletal- Pelvis:
coxa valga
pelvic exostoses

Skeletal- Spine:
kyphosis
mild platyspondyly

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
short, broad clavicles
short, broad ribs

Chest- External Features:
narrow chest
narrow shoulders

Skin Nails & Hair- Hair:
coarse hair

Skin Nails & Hair- Skin:
easy bruisability
soft skin
loose, redundant skin
mildly extensible skin

Genitourinary- Bladder:
bladder diverticula
bladder rupture

Head And Neck- Neck:
long neck

Head And Neck- Nose:
hooked nose

Genitourinary- Ureters:
ureteral obstruction

Skeletal- Hands:
capitate-hamate fusion

Head And Neck- Face:
high forehead
long philtrum
long, thin face

Skeletal:
joint laxity
osteoporosis

Genitourinary- Kidneys:
hydronephrosis

Skeletal- Limbs:
genu valgum
short humeri
limited elbow extension
limited knee extension

Abdomen- Gastroin testinal:
hiatal hernia
chronic diarrhea

Skeletal- Feet:
pes planus

Laboratory- Abnormalities:
decreased serum copper
decreased ceruloplasmin

Cardiovascular- Vascular:
orthostatic hypotension
elongated, tortuous carotid arteries
intracranial arterial narrowing

Neoplasia:
bladder carcinoma

Head And Neck- Head:
persistent, open anterior fontanel

Skeletal- Skull:
occipital horn exostoses

Neurologic- Central Nervous System:
low-normal iq


Clinical features from OMIM:

304150

Human phenotypes related to Occipital Horn Syndrome:

32 (show all 39)
id Description HPO Frequency HPO Source Accession
1 high forehead 32 HP:0000348
2 long face 32 HP:0000276
3 coxa valga 32 HP:0002673
4 joint laxity 32 HP:0001388
5 platyspondyly 32 HP:0000926
6 kyphosis 32 HP:0002808
7 osteoporosis 32 HP:0000939
8 hydronephrosis 32 HP:0000126
9 pectus carinatum 32 HP:0000768
10 genu valgum 32 HP:0002857
11 narrow chest 32 HP:0000774
12 long philtrum 32 HP:0000343
13 pectus excavatum 32 HP:0000767
14 persistent open anterior fontanelle 32 HP:0004474
15 narrow face 32 HP:0000275
16 coarse hair 32 HP:0002208
17 pes planus 32 HP:0001763
18 high palate 32 HP:0000218
19 limited elbow extension 32 HP:0001377
20 redundant skin 32 HP:0001582
21 broad clavicles 32 HP:0000916
22 broad ribs 32 HP:0000885
23 orthostatic hypotension 32 HP:0001278
24 chronic diarrhea 32 HP:0002028
25 short clavicles 32 HP:0000894
26 soft skin 32 HP:0000977
27 hiatus hernia 32 HP:0002036
28 hyperextensible skin 32 HP:0000974
29 limited knee extension 32 HP:0003066
30 long neck 32 HP:0000472
31 bladder carcinoma 32 HP:0002862
32 convex nasal ridge 32 HP:0000444
33 ureteral obstruction 32 HP:0006000
34 capitate-hamate fusion 32 HP:0001241
35 short humerus 32 HP:0005792
36 bruising susceptibility 32 HP:0000978
37 bladder diverticulum 32 HP:0000015
38 carotid artery tortuosity 32 HP:0005302
39 pelvic bone exostoses 32 HP:0003276

MGI Mouse Phenotypes related to Occipital Horn Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.13 ATP7A DBH LOX
2 integument MP:0010771 8.8 ATP7A DBH LOX

Drugs & Therapeutics for Occipital Horn Syndrome

Drugs for Occipital Horn Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved Phase 3 7440-50-8 27099
2 Micronutrients Phase 3
3 Trace Elements Phase 3
4 histidine Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3 Copper Histidine

Search NIH Clinical Center for Occipital Horn Syndrome

Genetic Tests for Occipital Horn Syndrome

Genetic tests related to Occipital Horn Syndrome:

id Genetic test Affiliating Genes
1 Cutis Laxa, X-Linked 29
2 Occipital Horn Syndrome 24

Anatomical Context for Occipital Horn Syndrome

MalaCards organs/tissues related to Occipital Horn Syndrome:

39
Bone, Skin

Publications for Occipital Horn Syndrome

Articles related to Occipital Horn Syndrome:

(show all 29)
id Title Authors Year
1
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype. ( 28761814 )
2017
2
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. ( 23281160 )
2013
3
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. ( 24002164 )
2013
4
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome. ( 22575542 )
2012
5
Occipital horn syndrome in a woman: skeletal radiological findings. ( 21553336 )
2011
6
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. ( 17496194 )
2007
7
Functional copper transport explains neurologic sparing in occipital horn syndrome. ( 17108763 )
2006
8
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
9
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. ( 12537648 )
2002
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
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. ( 11241493 )
2001
13
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. ( 11431706 )
2001
14
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. ( 10739752 )
2000
15
Intracranial and extracranial MR angiography in occipital horn syndrome. ( 11044951 )
2000
16
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. ( 9880610 )
1999
17
Occipital Horn syndrome in a 2-year-old boy. ( 10457850 )
1999
18
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
19
Metabolic and molecular bases of Menkes disease and occipital horn syndrome. ( 10463276 )
1998
20
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. ( 9246006 )
1997
21
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. ( 8923001 )
1996
22
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
23
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. ( 7887410 )
1995
24
Menkes disease and occipital horn syndrome. ( 7583733 )
1995
25
Occipital horn syndrome: report of a patient and review of the literature. ( 8149649 )
1994
26
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. ( 7842019 )
1994
27
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. ( 8099605 )
1993
28
Occipital horn syndrome. Additional radiographic findings in two new cases. ( 1408447 )
1992
29
[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

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

71
id Symbol AA change Variation ID SNP ID
1 ATP7A p.Ser637Leu VAR_009999 rs28936068
2 ATP7A p.Asn1304Ser VAR_063883

ClinVar genetic disease variations for Occipital Horn Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP7A ATP7A, IVSAS, 2642A-G, -2 single nucleotide variant Pathogenic
2 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh37 Chromosome X, 77266713: 77266713
3 ATP7A ATP7A, 8-BP DEL, NT1552 deletion Pathogenic
4 ATP7A ATP7A, IVS6DS, T-A, +6 single nucleotide variant Pathogenic
5 ATP7A ATP7A, 1-BP DEL, 4497G deletion Pathogenic
6 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh37 Chromosome X, 77298192: 77298192

Expression for Occipital Horn Syndrome

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

Pathways for Occipital Horn Syndrome

GO Terms for Occipital Horn Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.32 ATP7A LOX
2 locomotory behavior GO:0007626 9.26 ATP7A DBH
3 collagen fibril organization GO:0030199 9.16 ATP7A LOX
4 blood vessel remodeling GO:0001974 8.96 ATP7A DBH
5 elastic fiber assembly GO:0048251 8.62 ATP7A LOX

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

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.8 ATP7A DBH LOX

Sources for Occipital Horn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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