OSCS
MCID: OST022
MIFTS: 54

Osteopathia Striata with Cranial Sclerosis (OSCS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Osteopathia Striata with Cranial Sclerosis

MalaCards integrated aliases for Osteopathia Striata with Cranial Sclerosis:

Name: Osteopathia Striata with Cranial Sclerosis 57 12 20 72 36 29 13 6 15 39
Hyperostosis Generalisata with Striations 57 12 20 58 72
Robinow-Unger Syndrome 12 20 58 72
Oscs 57 20 72
Osteopathia Striata-Cranial Sclerosis Syndrome 20 58
Osteopathia Striata Cranial Sclerosis 44 70
Osteopathia Striata - Cranial Sclerosis 20
Voorhoeve Disease 20
Osc 17

Characteristics:

Orphanet epidemiological data:

58
osteopathia striata-cranial sclerosis syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
one-third of cases are sporadic
increased morbidity/mortality in affected males
onset of linear striations between 5 months and 6 years (only in affected females)

Inheritance:
x-linked dominant


HPO:

31
osteopathia striata with cranial sclerosis:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteopathia Striata with Cranial Sclerosis

OMIM® : 57 Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000). (300373) (Updated 20-May-2021)

MalaCards based summary : Osteopathia Striata with Cranial Sclerosis, also known as hyperostosis generalisata with striations, is related to cleft palate, isolated and branchiootic syndrome 1, and has symptoms including apnea and headache. An important gene associated with Osteopathia Striata with Cranial Sclerosis is AMER1 (APC Membrane Recruitment Protein 1), and among its related pathways/superpathways are Signaling by Wnt and Pathways in cancer. The drugs Analgesics and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and brain, and related phenotypes are thickened calvaria and large iliac wings

Disease Ontology : 12 An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material basis in mutation in the AMER1 gene on chromosome Xq11.

GARD : 20 Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and cleft palate. Some people with OSCS may also have developmental delay, hearing loss, heart defects, and breathing and feeding difficulties. Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene and is inherited in an X-linked dominant pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and may include surgery and physical therapy.

KEGG : 36 Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition is X-linked dominant. Germline mutations in WTX gene cause OSCS through increased osteoblast activity.

UniProtKB/Swiss-Prot : 72 Osteopathia striata with cranial sclerosis: An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations.

Related Diseases for Osteopathia Striata with Cranial Sclerosis

Diseases related to Osteopathia Striata with Cranial Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.8
2 branchiootic syndrome 1 10.6
3 hypertelorism 10.6
4 primary bone dysplasia with increased bone density 10.5
5 kearns-sayre syndrome 10.4
6 hydrocephalus 10.4
7 facial paralysis 10.4
8 osteochondrodysplasia 10.4
9 learning disability 10.4
10 beckwith-wiedemann syndrome 10.3
11 otitis media 10.3
12 cryptorchidism, unilateral or bilateral 10.3
13 pierre robin syndrome 10.3
14 taurodontism 10.3
15 focal dermal hypoplasia 10.3
16 patent ductus arteriosus 1 10.3
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
18 scoliosis 10.3
19 omphalocele 10.3
20 bone disease 10.3
21 osteomyelitis 10.3
22 synostosis 10.3
23 osteopoikilosis 10.3
24 pyloric stenosis 10.3
25 osteopetrosis 10.3
26 hyperostosis 10.3
27 kidney cancer 10.3
28 holoprosencephaly 10.3
29 spinal stenosis 10.3
30 hepatoblastoma 10.3
31 isolated pierre robin sequence 10.3
32 hypotonia 10.3
33 camurati-engelmann disease 10.2
34 craniosynostosis 1 10.2
35 hirschsprung disease 1 10.2
36 macrocephaly/megalencephaly syndrome, autosomal recessive 10.2
37 megalencephaly 10.2
38 stickler syndrome, type i 9.9
39 retinal detachment 9.9
40 chromosome 2q35 duplication syndrome 9.9
41 celiac disease 1 9.9
42 stickler syndrome, type ii 9.9
43 oral squamous cell carcinoma 9.9
44 stickler syndrome 9.9
45 rickets 9.9
46 premature menopause 9.9
47 hypertrophic pyloric stenosis 9.9
48 oligospermia 9.9
49 hypothyroidism 9.9
50 keratosis 9.9

Graphical network of the top 20 diseases related to Osteopathia Striata with Cranial Sclerosis:



Diseases related to Osteopathia Striata with Cranial Sclerosis

Symptoms & Phenotypes for Osteopathia Striata with Cranial Sclerosis

Human phenotypes related to Osteopathia Striata with Cranial Sclerosis:

58 31 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thickened calvaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002684
2 large iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008818
3 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
4 high iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008808
5 facial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005465
6 coarse metaphyseal trabecularization 31 hallmark (90%) HP:0100670
7 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
8 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
9 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
10 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
11 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
12 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
13 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
14 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
15 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
16 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
17 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
18 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
19 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
20 intellectual disability, mild 31 frequent (33%) HP:0001256
21 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
22 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
23 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
24 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
25 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
26 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
27 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
28 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
29 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
30 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
31 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
32 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
33 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
34 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
35 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
36 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
37 posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000358
38 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
39 severe short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003510
40 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
41 asymmetry of the thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0001555
42 echolalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010529
43 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
44 headache 31 occasional (7.5%) HP:0002315
45 high palate 31 very rare (1%) HP:0000218
46 delayed speech and language development 31 very rare (1%) HP:0000750
47 anal atresia 31 very rare (1%) HP:0002023
48 multicystic kidney dysplasia 31 very rare (1%) HP:0000003
49 omphalocele 31 very rare (1%) HP:0001539
50 anal stenosis 31 very rare (1%) HP:0002025

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
large fontanel
delayed closure of anterior fontanel
widened sutures

Neurologic Central Nervous System:
hydrocephalus
headaches
speech delay (10%)
transitional facial palsy (15%)
hypotonia (in males)
more
Skeletal Skull:
thickened calvaria
occipital bossing
sclerotic cranial base
sclerotic mastoids (31%)
cranial sclerosis
more
Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
pierre robin sequence (in males)
thick lips (in males)
more
Head And Neck Neck:
webbed neck

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Cardiovascular Vascular:
patent ductus arteriosus

Voice:
nasal speech

Respiratory Nasopharynx:
tracheomalacia
paranasal sinus hypoplasia

Respiratory Larynx:
laryngeal web

Head And Neck Teeth:
malocclusion
crowded teeth
natal teeth

Skeletal Limbs:
short fibulae
absent fibulae

Skeletal Feet:
toe contractures
club feet (in males)

Growth Other:
failure to thrive (in males)

Genitourinary Kidneys:
multicystic kidney (rare, in males)
nephrogenic rests (rare, in males)

Head And Neck Face:
frontal bossing
facial palsy
micrognathia
bitemporal narrowing

Head And Neck Eyes:
hypertelorism
epicanthal folds

Abdomen Gastrointestinal:
gastroesophageal reflux
intestinal malrotation (rare, in males)
anal stenosis (rare, in males)
anal atresia (rare, in males)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
hearing loss, conductive
overfolded ears

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
broad, flat ribs
long, straight clavicles
broad medial and lateral clavicles

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
oligohydramnios

Respiratory:
apnea

Skeletal Spine:
spina bifida occulta
thoracolumbar gibbus
scoliosis (23%)

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
finger contractures
long, slender fingers
duplicate phalanges
more
Head And Neck Nose:
broad nasal bridge

Chest Breasts:
widely spaced nipples

Skeletal:
joint contractures
osteopathia striata (linear striations of long bone diametaphyses, only in females)
increased trabecular thickness seen on iliac bone biopsy

Growth Height:
short stature (in males)

Abdomen External Features:
omphalocele (rare, in males)

Muscle Soft Tissue:
nemaline myopathy (in 1 reported male)

Clinical features from OMIM®:

300373 (Updated 20-May-2021)

UMLS symptoms related to Osteopathia Striata with Cranial Sclerosis:


apnea; headache

Drugs & Therapeutics for Osteopathia Striata with Cranial Sclerosis

Drugs for Osteopathia Striata with Cranial Sclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Analgesics Phase 2
2
Acetaminophen Approved 103-90-2 1983
3
Celecoxib Approved, Investigational 169590-42-5 2662
4
Ondansetron Approved 99614-02-5 4595
5
Hydrocodone Approved, Illicit, Investigational 125-29-1 5284569
6
Ibuprofen Approved 15687-27-1 3672
7
Gabapentin Approved, Investigational 60142-96-3 3446
8
Ketorolac Approved 74103-06-3, 66635-83-4 3826
9 Acetaminophen, hydrocodone drug combination

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Supportive Care With or Without Repeated Whole Brain Radiotherapy in Patients With Recurrent Brain Metastases Unsuitable for Resection or Stereotactic Radiotherapy. Recruiting NCT04084431 Phase 2
2 The Effect of Standard Helping Babies Breathe Training With Video-debriefing on Health Workers Knowledge and Skills Attainment and Retention in Lira District Northern Uganda Unknown status NCT03703622
3 Randomized Controlled Trial of an Adapted STD Screening and Risk Reduction Intervention Unknown status NCT02513225
4 Implementation of Realistic Simulation as Patient Safety Improvement Method: Controlled Trial Unknown status NCT02653781
5 Impact of Formative Objective Structured Clinical Examination (OSCE) on Students' Summative Clinical Performance: A Randomized Controlled Trial Completed NCT03599232
6 Evaluating the Effects of Implementing an Scenario-based Education Initiative and OSCE for Recognition and Management of Delirium in Adult Intensive Care Unit: Randomised Controlled Trial Completed NCT03642249
7 Efficacy of Near-Assisted Learning (NAL) in Improving Students' OSCE Grades: A Single-Blinded RCT Completed NCT04177979
8 Innovative Strategies Which Improve the Clinical Handoff (I-SWITCH) Phase II: Randomized Controlled Trial Evaluating Educational Modalities Including Cognitive Simulation Completed NCT00917072
9 Comprehensive Technology-Assisted Training and Supervision Program to Enhance Depression Management in Primary Care Completed NCT02232854
10 Pediatric Continuity Care Intensivist: Role Implementation and Randomized Control Trial Completed NCT02146573
11 Self-directed Video Versus Instructor-based Neonatal Resuscitation Training of Novice Providers. A Controlled Blinded Randomized Non-inferiority Multicenter Study Completed NCT01847911
12 Comparing Basic Life Support Performance Data Acquired From Serious Game Based Module and Simulation Based Hands on Training Via Built in Sensors of Simulators Completed NCT04533893
13 Newborn Heart Rate as a Catalyst for Improved Survival (NeoBeat Study) Recruiting NCT03799861
14 Preventing Early Childhood Obesity, Part 2: Family Spirit Nurture, Prenatal - 18 Months Recruiting NCT03334266
15 Evolution of Empathy and Emotional Intelligence During a Doctor-patient Relationship Training for 4th Year Medical Students Recruiting NCT03887195
16 Enhanced Recovery After Bilateral Reduction Mammaplasty Not yet recruiting NCT04558840

Search NIH Clinical Center for Osteopathia Striata with Cranial Sclerosis

Cochrane evidence based reviews: osteopathia striata cranial sclerosis

Genetic Tests for Osteopathia Striata with Cranial Sclerosis

Genetic tests related to Osteopathia Striata with Cranial Sclerosis:

# Genetic test Affiliating Genes
1 Osteopathia Striata with Cranial Sclerosis 29 AMER1

Anatomical Context for Osteopathia Striata with Cranial Sclerosis

MalaCards organs/tissues related to Osteopathia Striata with Cranial Sclerosis:

40
Bone, Kidney, Brain

Publications for Osteopathia Striata with Cranial Sclerosis

Articles related to Osteopathia Striata with Cranial Sclerosis:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. 57 6 61
20950377 2011
2
Osteopathia striata with cranial sclerosis owing to WTX gene defect. 61 6 57
20209645 2010
3
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. 57 6 61
9383023 1997
4
How to counsel in osteopathia striata with cranial sclerosis. 57 6 61
9327263 1997
5
Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. 6 57 61
8723089 1996
6
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 6 57
19079258 2009
7
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome. 6 61
27369646 2017
8
WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features. 6 61
22716240 2012
9
The male phenotype in osteopathia striata congenita with cranial sclerosis. 57 61
22043478 2011
10
Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl. 57 61
15266607 2004
11
Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS). 57 61
14577672 2003
12
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. 61 57
11807859 2002
13
Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance. 57 61
10893667 2000
14
Clinical vignette: osteopathia striata with cranial sclerosis. 61 57
9893078 1999
15
Severe malformations in males from families with osteopathia striata with cranial sclerosis. 61 57
9842992 1998
16
Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder? 57 61
9128936 1997
17
Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? 61 57
8362918 1993
18
Osteopathia striata with cranial sclerosis affecting three family members. 61 57
4071101 1985
19
Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. 61 57
7004677 1980
20
Osteopathia striata with cranial sclerosis. An autosomal dominant entity. 61 57
627110 1978
21
Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility. 57
9556297 1998
22
Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy. 57
3276523 1988
23
Osteopathia striata with sclerosis and thickening of the skull. 57
7225724 1981
24
Osteopathia striata syndrome. Clinical, genetic and radiologic considerations. 57
6965904 1980
25
Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata. 57
7405956 1980
26
Osteopathia striata, osteopetrosis, and impaired hearing. A case report. 57
5635349 1968
27
A RARE FAMILIAL SYSTEMIC AFFECTION OF THE SKELETON: FAIRBANK'S DISEASE. 57
14101262 1964
28
Wilms tumor in patients with osteopathia striata with cranial sclerosis. 61
32879452 2021
29
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis. 61
33265914 2020
30
Sequential radiologic findings in osteopathia striata with cranial sclerosis. 61
31031202 2019
31
Zebrafish Wtx is a negative regulator of Wnt signaling but is dispensable for embryonic development and organ homeostasis. 61
31290212 2019
32
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis. 61
28990699 2018
33
Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles. 61
29329488 2018
34
High bone mass due to novel LRP5 and AMER1 mutations. 61
28893644 2017
35
Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? 61
29120061 2017
36
A knock-in mouse line conditionally expressing the tumor suppressor WTX/AMER1. 61
28960679 2017
37
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2. 61
28799946 2017
38
A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis. 61
28390856 2017
39
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. 61
28497491 2017
40
Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma. 61
27068044 2016
41
Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings. 61
26886897 2016
42
Prenatal diagnosis of osteopathia striata with cranial sclerosis. 61
25284440 2015
43
Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology. 61
25296999 2015
44
Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient. 61
27489848 2014
45
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. 61
24459086 2014
46
Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia. 61
23524727 2013
47
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. 61
23401208 2013
48
Dental findings in a child with osteopathia striata with cranial sclerosis (OS-CS): a case report. 61
24046992 2013
49
Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. 61
22987541 2012
50
[Osteopathia striata with cranial sclerosis]. 61
21665235 2011

Variations for Osteopathia Striata with Cranial Sclerosis

ClinVar genetic disease variations for Osteopathia Striata with Cranial Sclerosis:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMER1 NM_152424.4(AMER1):c.429T>A (p.Cys143Ter) SNV Pathogenic 29979 rs387906722 GRCh37: X:63412738-63412738
GRCh38: X:64192858-64192858
2 AMER1 NM_152424.4(AMER1):c.1267del (p.Leu423fs) Deletion Pathogenic 37045 rs398122877 GRCh37: X:63411900-63411900
GRCh38: X:64192020-64192020
3 AMER1 NM_152424.4(AMER1):c.811C>T (p.Gln271Ter) SNV Pathogenic 37046 rs387907269 GRCh37: X:63412356-63412356
GRCh38: X:64192476-64192476
4 AMER1 NM_152424.4(AMER1):c.565C>T (p.Gln189Ter) SNV Pathogenic 636242 rs1602068260 GRCh37: X:63412602-63412602
GRCh38: X:64192722-64192722
5 AMER1 NC_000023.11:g.(64175170_64275169)del Deletion Pathogenic 974942 GRCh37:
GRCh38:
6 AMER1 NC_000023.11:g.63635938_64279758del Deletion Pathogenic 974943 GRCh37:
GRCh38:
7 AMER1 NM_152424.4(AMER1):c.555_556del (p.Gly186_Ala187insTer) Deletion Pathogenic 974944 GRCh37: X:63412611-63412612
GRCh38: X:64192731-64192732
8 AMER1 NC_000023.11:g.64203964_64205888del Deletion Pathogenic 975790 GRCh37: X:63423844-63425768
GRCh38: X:64203964-64205888
9 AMER1 NC_000023.11:g.64205190_64206761del Deletion Pathogenic 975791 GRCh37: X:63425070-63426641
GRCh38: X:64205190-64206761
10 AMER1 NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) SNV Pathogenic 10708 rs137852217 GRCh37: X:63412095-63412095
GRCh38: X:64192215-64192215
11 AMER1 NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter) SNV Pathogenic 10707 rs137852216 GRCh37: X:63412110-63412110
GRCh38: X:64192230-64192230
12 AMER1 AMER1, DEL Deletion Pathogenic 10706 GRCh37:
GRCh38:
13 AMER1 NM_152424.4(AMER1):c.780dup (p.Pro261fs) Duplication Pathogenic 10705 rs1569192251 GRCh37: X:63412386-63412387
GRCh38: X:64192506-64192507
14 AMER1 NM_152424.4(AMER1):c.671del (p.Pro224fs) Deletion Pathogenic 10704 rs1569192315 GRCh37: X:63412496-63412496
GRCh38: X:64192616-64192616
15 AMER1 NM_152424.4(AMER1):c.1384del (p.Glu462fs) Deletion Likely pathogenic 804016 rs1602067633 GRCh37: X:63411783-63411783
GRCh38: X:64191903-64191903
16 AMER1 NM_152424.4(AMER1):c.655del (p.Glu219fs) Deletion Likely pathogenic 438746 rs1555933578 GRCh37: X:63412512-63412512
GRCh38: X:64192632-64192632
17 AMER1 NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) SNV Uncertain significance 133501 rs138399473 GRCh37: X:63413082-63413082
GRCh38: X:64193202-64193202
18 AMER1 NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter) SNV Uncertain significance 931036 GRCh37: X:63411119-63411119
GRCh38: X:64191239-64191239
19 AMER1 NM_152424.4(AMER1):c.1305C>G (p.Gly435=) SNV Uncertain significance 1030258 GRCh37: X:63411862-63411862
GRCh38: X:64191982-64191982
20 AMER1 NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr) SNV Uncertain significance 1030259 GRCh37: X:63410804-63410804
GRCh38: X:64190924-64190924
21 AMER1 NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr) SNV Uncertain significance 1030260 GRCh37: X:63409839-63409839
GRCh38: X:64189959-64189959
22 AMER1 NM_152424.4(AMER1):c.71C>T (p.Thr24Ile) SNV Uncertain significance 1030261 GRCh37: X:63413096-63413096
GRCh38: X:64193216-64193216
23 AMER1 NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) SNV Likely benign 133487 rs144896730 GRCh37: X:63411371-63411371
GRCh38: X:64191491-64191491
24 AMER1 NM_152424.4(AMER1):c.3408G>A (p.Ter1136=) SNV Likely benign 720216 rs372461050 GRCh37: X:63409759-63409759
GRCh38: X:64189879-64189879
25 AMER1 NM_152424.4(AMER1):c.401A>C (p.His134Pro) SNV Likely benign 784730 rs146489129 GRCh37: X:63412766-63412766
GRCh38: X:64192886-64192886

Expression for Osteopathia Striata with Cranial Sclerosis

Search GEO for disease gene expression data for Osteopathia Striata with Cranial Sclerosis.

Pathways for Osteopathia Striata with Cranial Sclerosis

Pathways related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 LRP6 LRP5 AXIN1 AMER1
2 12.52 LRP6 LRP5 FZD9 AXIN1
3
Show member pathways
12.44 LRP6 LRP5 FZD9 AXIN1
4
Show member pathways
12.25 LRP6 LRP5 AXIN1 AMER1
5
Show member pathways
12.2 LRP6 LRP5 FZD9 AXIN1
6 12.1 LRP6 LRP5 FZD9 AXIN1
7 11.9 LRP6 LRP5 FZD9
8 11.88 LRP6 LRP5 AXIN1 AMER1
9
Show member pathways
11.81 LRP6 LRP5 FZD9 AXIN1
10 11.68 LRP6 LRP5 FZD9 AXIN1
11 11.46 LRP6 LRP5
12 11.42 FZD9 AXIN1
13 11.27 LRP6 LRP5 AXIN1
14 11.26 LRP6 LRP5 FZD9 AXIN1
15 11.24 LRP6 AXIN1
16 11.09 LRP5 AXIN1
17
Show member pathways
11.05 LRP6 LRP5
18 10.93 LRP6 LRP5
19
Show member pathways
10.85 LRP6 LRP5
20 10.25 LRP6 LRP5 FZD9

GO Terms for Osteopathia Striata with Cranial Sclerosis

Cellular components related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 LRP6 LRP5 FZD9 AXIN1 AMER3 AMER2
2 Wnt signalosome GO:1990909 8.96 LRP6 LRP5
3 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.62 LRP6 LRP5

Biological processes related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.61 FZD9 AXIN1 AMER1
2 positive regulation of protein ubiquitination GO:0031398 9.56 AXIN1 AMER1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.56 LRP6 AXIN1 AMER2 AMER1
4 response to peptide hormone GO:0043434 9.55 LRP6 LRP5
5 bone development GO:0060348 9.54 LRP5 AMER1
6 canonical Wnt signaling pathway GO:0060070 9.54 LRP6 LRP5 FZD9
7 toxin transport GO:1901998 9.52 LRP6 LRP5
8 bone morphogenesis GO:0060349 9.51 LRP6 LRP5
9 adipose tissue development GO:0060612 9.49 LRP5 AMER1
10 negative regulation of protein serine/threonine kinase activity GO:0071901 9.48 LRP6 LRP5
11 bone remodeling GO:0046849 9.46 LRP6 LRP5
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.4 LRP6 LRP5
13 regulation of canonical Wnt signaling pathway GO:0060828 9.33 AMER3 AMER2 AMER1
14 beta-catenin destruction complex assembly GO:1904885 9.32 AXIN1 AMER1
15 Wnt signaling pathway GO:0016055 9.17 LRP6 LRP5 FZD9 AXIN1 AMER3 AMER2
16 beta-catenin destruction complex disassembly GO:1904886 9.13 LRP6 AXIN1 AMER1

Molecular functions related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.63 AMER3 AMER2 AMER1
2 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.54 AMER3 AMER2 AMER1
3 coreceptor activity GO:0015026 9.43 LRP6 LRP5
4 toxin transmembrane transporter activity GO:0019534 9.4 LRP6 LRP5
5 Wnt-protein binding GO:0017147 9.33 LRP6 LRP5 FZD9
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.32 LRP6 LRP5
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.26 LRP6 LRP5
8 Wnt-activated receptor activity GO:0042813 9.13 LRP6 LRP5 FZD9
9 beta-catenin binding GO:0008013 8.92 AXIN1 AMER3 AMER2 AMER1

Sources for Osteopathia Striata with Cranial Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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