MCID: OST022
MIFTS: 47

Osteopathia Striata with Cranial Sclerosis

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

Aliases & Classifications for Osteopathia Striata with Cranial Sclerosis

MalaCards integrated aliases for Osteopathia Striata with Cranial Sclerosis:

Name: Osteopathia Striata with Cranial Sclerosis 54 12 24 71 29 13 14
Hyperostosis Generalisata with Striations 12 50 24 56 71
Robinow-Unger Syndrome 12 50 56 71
Osteopathia Striata Cranial Sclerosis 50 42 69
Oscs 50 24 71
Osteopathia Striata-Cranial Sclerosis Syndrome 50 56
Osteopathia Striata - Cranial Sclerosis 50

Characteristics:

Orphanet epidemiological data:

56
osteopathia striata-cranial sclerosis syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
x-linked dominant

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)


HPO:

32
osteopathia striata with cranial sclerosis:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Osteopathia Striata with Cranial Sclerosis

OMIM : 54
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)

MalaCards based summary : Osteopathia Striata with Cranial Sclerosis, also known as hyperostosis generalisata with striations, is related to spinal stenosis and osteomyelitis, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Osteopathia Striata with Cranial Sclerosis is AMER1 (APC Membrane Recruitment Protein 1), and among its related pathways/superpathways are Colorectal Cancer Metastasis and MicroRNAs in cardiomyocyte hypertrophy. Affiliated tissues include bone, heart and eye, and related phenotypes are cardiovascular system and growth/size/body region

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.

NIH Rare Diseases : 50 osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. the severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). osteopathia striata cranial sclerosis is caused by changes (mutations) in the wtx gene and is inherited in an x-linked dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 12/9/2015

UniProtKB/Swiss-Prot : 71 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 all 12)
id Related Disease Score Top Affiliating Genes
1 spinal stenosis 10.1
2 osteomyelitis 10.1
3 cervicitis 10.1
4 hepatoblastoma 10.1
5 hyperostosis 10.1
6 celiac disease 9.8
7 post-traumatic stress disorder 9.7 LRP5 TNFRSF11B
8 physical disorder 9.6 LRP5 TNFRSF11B
9 bone deterioration disease 9.4 LRP5 TNFRSF11B
10 van buchem disease, type 2 9.3 AMER1 LRP5 TNFRSF11B
11 chylomicron retention disease 8.9 LRP5 TGFBR1 TNFRSF11B
12 immunodeficiency 50 8.0 AMER1 LRP5 TGFBR1 TNFRSF11B YARS

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

Symptoms via clinical synopsis from OMIM:

54

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

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

Head And Neck- Eyes:
epicanthal folds
hypertelorism

Head And Neck- Teeth:
natal teeth
crowded teeth
malocclusion

Cardiovascular- Vascular:
patent ductus arteriosus

Respiratory:
apnea

Abdomen- Gastroin testinal:
gastroesophageal reflux
intestinal malrotation (rare, in males)
anal stenosis (rare, in males)
anal atresia (rare, in males)

Head And Neck- Head:
macrocephaly
widened sutures
large fontanelle
delayed closure of anterior fontanelle

Head And Neck- Nose:
broad nasal bridge

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

Respiratory- Nasopharynx:
tracheomalacia
paranasal sinus hypoplasia

Skeletal- Skull:
occipital bossing
sclerotic cranial base
sclerotic mastoids (31%)
cranial sclerosis
thickened calvaria
more
Growth- Other:
failure to thrive (in males)

Abdomen- External Features:
omphalocele (rare, in males)

Skeletal- Feet:
club feet (in males)
toe contractures

Neurologic- Central Nervous System:
hydrocephalus
headaches
speech delay (10%)
transitional facial palsy (15%)
hypotonia (in males)
more
Head And Neck- Face:
micrognathia
frontal bossing
bitemporal narrowing
facial palsy

Head And Neck- Mouth:
cleft palate
cleft lip
bifid uvula
pierre robin sequence (in males)
thick lips (in males)
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios
oligohydramnios

Chest- Breasts:
widely spaced nipples

Skeletal- Hands:
fifth finger clinodactyly
camptodactyly
finger contractures
long, slender fingers
duplicate phalanges
more
Skeletal- Limbs:
short fibulae
absent fibulae

Head And Neck- Neck:
webbed neck

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

Voice:
nasal speech

Growth- Height:
short stature (in males)

Respiratory- Larynx:
laryngeal web

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

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


Clinical features from OMIM:

300373

Human phenotypes related to Osteopathia Striata with Cranial Sclerosis:

32 (show top 50) (show all 69)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 scoliosis 32 very rare (1%) HP:0002650
4 headache 32 occasional (7.5%) HP:0002315
5 seizures 32 HP:0001250
6 hydrocephalus 32 HP:0000238
7 low-set ears 32 HP:0000369
8 micrognathia 32 HP:0000347
9 hypertelorism 32 HP:0000316
10 cleft palate 32 HP:0000175
11 atrial septal defect 32 HP:0001631
12 patent ductus arteriosus 32 HP:0001643
13 large fontanelles 32 HP:0000239
14 polyhydramnios 32 HP:0001561
15 frontal bossing 32 HP:0002007
16 posteriorly rotated ears 32 HP:0000358
17 apnea 32 HP:0002104
18 gastroesophageal reflux 32 HP:0002020
19 camptodactyly 32 HP:0012385
20 talipes equinovarus 32 HP:0001762
21 macrocephaly 32 HP:0000256
22 pierre-robin sequence 32 HP:0000201
23 bifid uvula 32 HP:0000193
24 ventricular septal defect 32 HP:0001629
25 omphalocele 32 occasional (7.5%) HP:0001539
26 intellectual disability, mild 32 frequent (33%) HP:0001256
27 wide nasal bridge 32 HP:0000431
28 webbed neck 32 HP:0000465
29 pectus excavatum 32 HP:0000767
30 partial agenesis of the corpus callosum 32 HP:0001338
31 spina bifida occulta 32 HP:0003298
32 oligohydramnios 32 HP:0001562
33 tracheomalacia 32 HP:0002779
34 narrow forehead 32 HP:0000341
35 intestinal malrotation 32 HP:0002566
36 high palate 32 very rare (1%) HP:0000218
37 arachnodactyly 32 HP:0001166
38 epicanthus 32 HP:0000286
39 muscular hypotonia 32 HP:0001252
40 dental malocclusion 32 HP:0000689
41 nasal speech 32 HP:0001611
42 microtia 32 HP:0008551
43 broad ribs 32 HP:0000885
44 dental crowding 32 HP:0000678
45 fibular aplasia 32 HP:0002990
46 anal stenosis 32 occasional (7.5%) HP:0002025
47 facial palsy 32 HP:0010628
48 anal atresia 32 occasional (7.5%) HP:0002023
49 thick lower lip vermilion 32 HP:0000179
50 delayed speech and language development 32 occasional (7.5%) HP:0000750

UMLS symptoms related to Osteopathia Striata with Cranial Sclerosis:


headache

MGI Mouse Phenotypes related to Osteopathia Striata with Cranial Sclerosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.67 LRP5 TGFBR1 TNFRSF11B AMER1
2 growth/size/body region MP:0005378 9.65 AMER1 LRP5 TGFBR1 TNFRSF11B YARS
3 embryo MP:0005380 9.62 AMER1 LRP5 TGFBR1 YARS
4 mortality/aging MP:0010768 9.35 AMER1 LRP5 TGFBR1 TNFRSF11B YARS
5 limbs/digits/tail MP:0005371 9.33 AMER1 LRP5 TNFRSF11B
6 skeleton MP:0005390 8.92 AMER1 LRP5 TGFBR1 TNFRSF11B

Drugs & Therapeutics for Osteopathia Striata with Cranial Sclerosis

Search Clinical Trials , 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:

id Genetic test Affiliating Genes
1 Osteopathia Striata with Cranial Sclerosis 29 24 AMER1

Anatomical Context for Osteopathia Striata with Cranial Sclerosis

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

39
Bone, Heart, Eye, Kidney

Publications for Osteopathia Striata with Cranial Sclerosis

Articles related to Osteopathia Striata with Cranial Sclerosis:

(show all 27)
id Title Authors Year
1
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9a88Mbp interstitial deletion at Xq11.1q11.2. ( 28799946 )
2017
2
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. ( 28497491 )
2017
3
A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis. ( 28390856 )
2017
4
Germline mosaicism in osteopathia striata with cranial sclerosis - recurrence in siblings. ( 26886897 )
2016
5
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome. ( 27369646 )
2016
6
Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma. ( 27068044 )
2016
7
Prenatal diagnosis of osteopathia striata with cranial sclerosis. ( 25284440 )
2015
8
Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology. ( 25296999 )
2015
9
Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient. ( 27489848 )
2014
10
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. ( 24459086 )
2014
11
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. ( 23401208 )
2013
12
Dental findings in a child with osteopathia striata with cranial sclerosis (OS-CS): a case report. ( 24046992 )
2013
13
Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. ( 22987541 )
2012
14
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. ( 20950377 )
2011
15
Mosaicism in osteopathia striata with cranial sclerosis. ( 20150574 )
2010
16
Osteopathia striata with cranial sclerosis owing to WTX gene defect. ( 20209645 )
2010
17
Surgically assisted rapid maxillary expansion in two cases of osteopathia striata with cranial sclerosis. ( 18452358 )
2008
18
Osteopathia striata with cranial sclerosis and lumbar spinal stenosis. ( 17558457 )
2007
19
Osteopathia striata with cranial sclerosis and hearing loss. ( 16010569 )
2006
20
Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl. ( 15266607 )
2004
21
Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report. ( 11512010 )
2001
22
Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance. ( 10893667 )
2000
23
Clinical vignette: osteopathia striata with cranial sclerosis. ( 9893078 )
1999
24
Severe malformations in males from families with osteopathia striata with cranial sclerosis. ( 9842992 )
1998
25
Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder? ( 9128936 )
1997
26
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. ( 9383023 )
1997
27
How to counsel in osteopathia striata with cranial sclerosis. ( 9327263 )
1997

Variations for Osteopathia Striata with Cranial Sclerosis

ClinVar genetic disease variations for Osteopathia Striata with Cranial Sclerosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AMER1 AMER1, 1-BP DEL, 671C deletion Pathogenic
2 AMER1 AMER1, 1-BP INS, 780A insertion Pathogenic
3 AMER1 AMER1, DEL deletion Pathogenic
4 AMER1 NM_152424.3(AMER1): c.1057C> T (p.Arg353Ter) single nucleotide variant Pathogenic rs137852216 GRCh37 Chromosome X, 63412110: 63412110
5 AMER1 NM_152424.3(AMER1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs137852217 GRCh37 Chromosome X, 63412095: 63412095
6 AMER1 NM_152424.3(AMER1): c.429T> A (p.Cys143Ter) single nucleotide variant Pathogenic rs387906722 GRCh37 Chromosome X, 63412738: 63412738
7 AMER1 NM_152424.3(AMER1): c.1267delC (p.Leu423Trpfs) deletion Pathogenic rs398122877 GRCh37 Chromosome X, 63411900: 63411900
8 AMER1 NM_152424.3(AMER1): c.811C> T (p.Gln271Ter) single nucleotide variant Pathogenic rs387907269 GRCh37 Chromosome X, 63412356: 63412356

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:

id Super pathways Score Top Affiliating Genes
1 11.54 LRP5 TGFBR1
2
Show member pathways
11.46 LRP5 TGFBR1
3 11.26 TGFBR1 TNFRSF11B
4 11.06 AMER1 LRP5 TGFBR1
5 10.61 TGFBR1 TNFRSF11B

GO Terms for Osteopathia Striata with Cranial Sclerosis

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

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 LRP5 TGFBR1

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

id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.54 TGFBR1 TNFRSF11B YARS
2 skeletal system development GO:0001501 9.4 TGFBR1 TNFRSF11B
3 anterior/posterior pattern specification GO:0009952 9.32 LRP5 TGFBR1
4 bone development GO:0060348 9.26 AMER1 LRP5
5 adipose tissue development GO:0060612 9.16 AMER1 LRP5
6 regulation of canonical Wnt signaling pathway GO:0060828 8.96 AMER1 LRP5
7 beta-catenin destruction complex disassembly GO:1904886 8.62 AMER1 LRP5

Sources for Osteopathia Striata with Cranial Sclerosis

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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