CRJS
MCID: CRR017
MIFTS: 35

Curry-Jones Syndrome (CRJS)

Categories: Bone diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Curry-Jones Syndrome

MalaCards integrated aliases for Curry-Jones Syndrome:

Name: Curry-Jones Syndrome 57 59 74
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 57 53 74 29 6
Curry-Jones Syndrome, Somatic Mosaic 57 40
Curry Jones Syndrome 53 74
Crjs 57 74
Corpus Callosum Agenesis-Polysyndactyly Syndrome 59
Corpus Callosum Agenesis Polysyndactyly 53
Winter Shortland Temple Syndrome 72
Digestive System Abnormalities 44

Characteristics:

Orphanet epidemiological data:

59
curry-jones syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
somatic mosaicism


HPO:

32
curry-jones syndrome:
Inheritance somatic mosaicism


Classifications:



External Ids:

OMIM 57 601707
ICD10 via Orphanet 34 Q87.0
Orphanet 59 ORPHA1553
MedGen 42 C0795915
UMLS 72 C0795915

Summaries for Curry-Jones Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1553DefinitionCurry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Curry-Jones Syndrome, also known as craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development, is related to silver-russell syndrome and contractural arachnodactyly, congenital. An important gene associated with Curry-Jones Syndrome is SMO (Smoothened, Frizzled Class Receptor). The drugs Chromium and Copper have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and smooth muscle, and related phenotypes are hypertelorism and finger syndactyly

OMIM : 57 Curry-Jones syndrome is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016). (601707)

UniProtKB/Swiss-Prot : 74 Curry-Jones syndrome: A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas.

Related Diseases for Curry-Jones Syndrome

Graphical network of the top 20 diseases related to Curry-Jones Syndrome:



Diseases related to Curry-Jones Syndrome

Symptoms & Phenotypes for Curry-Jones Syndrome

Human phenotypes related to Curry-Jones Syndrome:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
4 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 broad thumb 59 32 occasional (7.5%) Frequent (79-30%) HP:0011304
7 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
8 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
9 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
10 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
11 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
12 foot polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001829
13 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
14 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
15 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
16 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
17 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
18 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588
19 polymicrogyria 32 occasional (7.5%) HP:0002126
20 hirsutism 32 occasional (7.5%) HP:0001007
21 chronic constipation 32 occasional (7.5%) HP:0012450
22 arnold-chiari type i malformation 32 occasional (7.5%) HP:0007099
23 cutaneous syndactyly of toes 32 occasional (7.5%) HP:0010621
24 duplication of thumb phalanx 32 occasional (7.5%) HP:0009942
25 hemimegalencephaly 32 occasional (7.5%) HP:0007206
26 global developmental delay 32 HP:0001263
27 blepharophimosis 32 HP:0000581
28 cutaneous finger syndactyly 32 HP:0010554
29 abnormality of the skin 32 HP:0000951
30 anal stenosis 32 HP:0002025
31 abnormality of thumb phalanx 59 Frequent (79-30%)
32 coloboma 32 HP:0000589
33 syndactyly 32 HP:0001159

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ventriculomegaly
psychomotor delay, mild to moderate
polymicrogyria (in some patients)
agenesis of the corpus callosum, partial or complete
hemimegalencephaly (in some patients)
more
Head And Neck Face:
facial asymmetry

Skeletal Hands:
broad thumbs (in some patients)
preaxial polydactyly (rare)
duplicated thumbs (in some patients)

Skeletal Skull:
unilateral coronal synostosis

Skeletal Limbs:
asymmetric leg length (rare)

Skin Nails Hair Hair:
ectopic patch of facial hair, near eyes or on cheek
abnormal hair growth on shoulders and limbs (rare)
hirsutism (rare)

Head And Neck Eyes:
microphthalmia
coloboma
eyelid dysmorphism
ectopic patch of hair near eyes

Skin Nails Hair Skin:
cutaneous syndactyly of toes (in some patients)
hypopigmented streaky lesions
cutaneous syndactyly of fingers

Head And Neck Head:
unilateral coronal synostosis

Abdomen Gastrointestinal:
malrotation (in some patients)
dysmotility (in some patients)
pseudoobstruction (in some patients)
chronic constipation (in some patients)
hamartomas (in some patients)
more
Skeletal Feet:
bifid hallux (in some patients)
preaxial polydactyly (in some patients)

Neoplasia:
desmoplastic medulloblastoma of cerebellum (rare)

Clinical features from OMIM:

601707

Drugs & Therapeutics for Curry-Jones Syndrome

Drugs for Curry-Jones Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chromium Approved 7440-47-3 27668
2
Copper Approved, Investigational 7440-50-8 27099
3
Zinc Approved, Investigational 7440-66-6 32051
4
Manganese Approved, Nutraceutical 7439-96-5 27854
5 Anesthetics
6 Micronutrients
7 Trace Elements
8 Nutrients

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Survey of the Indications for Esophagogastroduodenoscopy (EGD) in Children's Hospital of Fudan University Completed NCT02789514
2 Follow-up Study of Children Aged 2 Years With Gastrointestinal Malformations and Postnatal Surgery Completed NCT01451307
3 Prenatal Ultrasound Screening of Intestinal Malrotation With a Higher Risk of Volvulus: Value of The Relative Position of The Superior Mesenteric Artery and Vein. Future of the Children With an Antenatal Malrotation Suspicion Completed NCT03356314
4 Evaluation of the Prevalence of Functional Digestive Disorders During Primary Sjögren Gougerot Syndrome Completed NCT03157011
5 Prenatal Diagnosis of Antenatal Midgut Volvulus: Specific Ultrasound Features Completed NCT03362450
6 Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. Completed NCT00780117
7 Neurodevelopment and Neuroimaging in Parenterally-fed Infants and Young Children Completed NCT00392730
8 Brain Manganese Deposition in High Risk Neonates Completed NCT00392977
9 Children's Hospital of Fudan University Recruiting NCT03603093
10 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Recruiting NCT03615495
11 Effects of Different Sports Supplements on Metabolism and Perceptual Responses During Distance Running Recruiting NCT03596788

Search NIH Clinical Center for Curry-Jones Syndrome

Cochrane evidence based reviews: digestive system abnormalities

Genetic Tests for Curry-Jones Syndrome

Genetic tests related to Curry-Jones Syndrome:

# Genetic test Affiliating Genes
1 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 29 SMO

Anatomical Context for Curry-Jones Syndrome

MalaCards organs/tissues related to Curry-Jones Syndrome:

41
Skin, Eye, Smooth Muscle, Brain, Bone, Cerebellum

Publications for Curry-Jones Syndrome

Articles related to Curry-Jones Syndrome:

# Title Authors PMID Year
1
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 38 8 71
27236920 2016
2
Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. 38 8 71
18798318 2008
3
Mild case of Curry-Jones syndrome. 38 8 71
16531740 2006
4
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome. 38 8 71
7606318 1995
5
Craniosynostosis update 1987. 38 8 71
3144990 1988
6
Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation. 8
10327257 1999
7
Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. 38
31120550 2019
8
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. 38
28386950 2017
9
Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome. 38
27484736 2016
10
Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors. 38
27534807 2016

Variations for Curry-Jones Syndrome

ClinVar genetic disease variations for Curry-Jones Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMO NM_005631.5(SMO): c.1234C> T (p.Leu412Phe) single nucleotide variant Pathogenic rs879255280 7:128846398-128846398 7:129206557-129206557

UniProtKB/Swiss-Prot genetic disease variations for Curry-Jones Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 SMO p.Leu412Phe VAR_077087 rs879255280

Expression for Curry-Jones Syndrome

Search GEO for disease gene expression data for Curry-Jones Syndrome.

Pathways for Curry-Jones Syndrome

GO Terms for Curry-Jones Syndrome

Sources for Curry-Jones Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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