MCID: OCC006
MIFTS: 49

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 53 72 49 55 71 36 13 51
Ohs 53 49 71
Cutis Laxa X-Linked 49 71
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly 53
Ehlers-Danlos Syndrome Occipital Horn Type 71
Cutis Laxa, X-Linked, Formerly 53
Ehlers-Danlos Syndrome Type Ix 55
Ehlers-Danlos Syndrome Type 9 55
Cutis Laxa, X-Linked 28
X-Linked Cutis Laxa 55
Eds Ix, Formerly 53
Eds9, Formerly 53
Eds Ix 55
Eds9 71

Characteristics:

Orphanet epidemiological data:

55
occipital horn syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

53
Inheritance:
x-linked recessive


HPO:

31
occipital horn syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Occipital Horn Syndrome

NIH Rare Diseases : 49 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 ohs, is related to menkes disease and overhydrated hereditary stomatocytosis, and has symptoms including pectus excavatum, genu valgum and osteopenia. 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 skin and bone, and related phenotypes are cardiovascular system and integument

OMIM : 53 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)

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.

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

Diseases related to Occipital Horn Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 menkes disease 30.7 ATP7A DBH LOX
2 overhydrated hereditary stomatocytosis 11.1
3 obesity-hypoventilation syndrome 11.1
4 exostoses, multiple, type i 11.0
5 cutis laxa 11.0
6 hermansky-pudlak syndrome 1 10.9
7 vitamin d hydroxylation-deficient rickets, type 1a 10.9
8 hypophosphatemic rickets, x-linked dominant 10.9
9 back pain 10.9
10 cardiogenic shock 10.9
11 hyperparathyroidism 10.0
12 blood group, i system 9.9
13 hypercalcemia, infantile, 1 9.9
14 leukemia 9.9
15 renal osteodystrophy 9.9
16 prostatitis 9.9
17 breast cancer 9.9
18 cohen-gibson syndrome 9.9
19 secondary hyperparathyroidism of renal origin 9.9
20 ring chromosome y syndrome 9.9
21 hepatitis 9.8
22 ehlers-danlos syndrome 9.8
23 muscular atrophy 9.8
24 aneurysm 9.8
25 prostate cancer 9.8
26 osteitis fibrosa 9.8
27 bone inflammation disease 9.8
28 osteoporosis 9.8
29 rheumatoid arthritis 9.8
30 insulin-like growth factor i 9.8
31 mungan syndrome 9.8
32 bone mineral density quantitative trait locus 8 9.8
33 bone mineral density quantitative trait locus 15 9.8
34 arthritis 9.8
35 diabetes mellitus 9.8
36 rickets 9.8
37 endometrial adenocarcinoma 9.8
38 adenocarcinoma 9.8
39 pustulosis of palm and sole 9.8
40 uremia 9.8
41 psoriasis 9.8
42 multiple sclerosis 9.7
43 fibrosis of extraocular muscles, congenital, 1 9.7
44 systemic lupus erythematosus 9.7
45 lung cancer 9.7
46 asthma 9.7
47 horns in sheep 9.7
48 leukemia, acute myeloid 9.7
49 microvascular complications of diabetes 3 9.7
50 microvascular complications of diabetes 4 9.7

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:

53
Skeletal:
joint laxity
osteoporosis

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

Skeletal Feet:
pes planus

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

Skeletal Pelvis:
coxa valga
pelvic exostoses

Genitourinary Kidneys:
hydronephrosis

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

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

Head And Neck Mouth:
high-arched palate

Neoplasia:
bladder carcinoma

Head And Neck Head:
persistent, open anterior fontanel

Neurologic Central Nervous System:
low-normal iq

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
short, broad clavicles
short, broad ribs

Skeletal Spine:
kyphosis
mild platyspondyly

Skin Nails Hair Hair:
coarse hair

Chest External Features:
narrow chest
narrow shoulders

Abdomen Gastroin testinal:
chronic diarrhea
hiatal hernia

Skeletal Hands:
capitate-hamate fusion

Head And Neck Neck:
long neck

Genitourinary Ureters:
ureteral obstruction

Genitourinary Bladder:
bladder diverticula
bladder rupture

Head And Neck Nose:
hooked nose

Skeletal Skull:
occipital horn exostoses

Laboratory Abnormalities:
decreased serum copper
decreased ceruloplasmin


Clinical features from OMIM:

304150

Human phenotypes related to Occipital Horn Syndrome:

55 31 (show top 50) (show all 95)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
2 genu valgum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002857
3 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
6 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
7 hypothermia 55 31 frequent (33%) Frequent (79-30%) HP:0002045
8 cerebral calcification 55 31 hallmark (90%) Very frequent (99-80%) HP:0002514
9 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
11 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
12 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
13 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
14 synostosis of joints 55 31 frequent (33%) Frequent (79-30%) HP:0100240
15 pectus carinatum 55 31 frequent (33%) Frequent (79-30%) HP:0000768
16 pes planus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001763
17 coarse hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0002208
18 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
19 rickets 55 31 frequent (33%) Frequent (79-30%) HP:0002748
20 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
21 hepatitis 55 31 frequent (33%) Frequent (79-30%) HP:0012115
22 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
23 exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0100777
24 narrow chest 55 31 occasional (7.5%) Occasional (29-5%) HP:0000774
25 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
26 coxa valga 55 31 occasional (7.5%) Occasional (29-5%) HP:0002673
27 short palm 55 31 frequent (33%) Frequent (79-30%) HP:0004279
28 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
29 large iliac wings 55 31 occasional (7.5%) Occasional (29-5%) HP:0008818
30 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
31 high, narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0002705
32 jaundice 55 31 frequent (33%) Frequent (79-30%) HP:0000952
33 gastroparesis 55 31 frequent (33%) Frequent (79-30%) HP:0002578
34 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
35 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
36 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
37 osteomalacia 55 31 frequent (33%) Frequent (79-30%) HP:0002749
38 esophagitis 55 31 frequent (33%) Frequent (79-30%) HP:0100633
39 bruising susceptibility 55 31 frequent (33%) Frequent (79-30%) HP:0000978
40 recurrent urinary tract infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0000010
41 bladder diverticulum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000015
42 high forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000348
43 down-sloping shoulders 55 31 occasional (7.5%) Occasional (29-5%) HP:0200021
44 keloids 55 31 frequent (33%) Frequent (79-30%) HP:0010562
45 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
46 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
47 venous insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0005293
48 abnormality of the sense of smell 55 31 frequent (33%) Frequent (79-30%) HP:0004408
49 coxa vara 55 31 occasional (7.5%) Occasional (29-5%) HP:0002812
50 hyperextensible skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000974

MGI Mouse Phenotypes related to Occipital Horn Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.13 ATP7A DBH LOX
2 integument MP:0010771 8.8 LOX ATP7A DBH

Drugs & Therapeutics for Occipital Horn Syndrome

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


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

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Cutis Laxa, X-Linked 28 ATP7A

Anatomical Context for Occipital Horn Syndrome

MalaCards organs/tissues related to Occipital Horn Syndrome:

38
Skin, Bone

Publications for Occipital Horn Syndrome

Articles related to Occipital Horn Syndrome:

(show all 29)
# Title Authors Year
1
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype. ( 28761814 )
2017
2
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. ( 24002164 )
2013
3
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. ( 23281160 )
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
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. ( 11431706 )
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
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. ( 11936860 )
2001
14
Intracranial and extracranial MR angiography in occipital horn syndrome. ( 11044951 )
2000
15
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. ( 10739752 )
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
# Symbol AA change Variation ID SNP ID
1 ATP7A p.Ser637Leu VAR_009999 rs151340631
2 ATP7A p.Asn1304Ser VAR_063883

ClinVar genetic disease variations for Occipital Horn Syndrome:

6
# 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
7 ATP7A NM_000052.6(ATP7A): c.3473C> A (p.Ser1158Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 78033783: 78033783
8 ATP7A NM_000052.6(ATP7A): c.4006-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 78043316: 78043316
9 ATP7A NM_000052.6(ATP7A): c.3111+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 78029445: 78029445

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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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