MCID: CRN188
MIFTS: 43

Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis malady

Neuronal diseases, Bone diseases, Fetal diseases, Genetic diseases categories

Summaries for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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MalaCards: Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis, also known as familial scaphocephaly - radioulnar synostosis, is related to beare-stevenson cutis gyrata syndrome and antley-bixler syndrome, and has symptoms including syndactyly of toes, umbilical hernia and pelvis anomaly/narrow/broad iliac wings/pubis abnormality. An important gene associated with Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis is RECQL4 (RecQ protein-like 4), and among its related pathways are TGF-Beta Pathway and p70S6K Signaling. The compounds SU4984 and Regorafenib have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and kidney, and related mouse phenotypes are limbs/digits/tail and integument.

Aliases & Classifications for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Genetic diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis 48
familial scaphocephaly - radioulnar synostosis 48
capra-demarco syndrome 48
berant syndrome 48


External Ids:

ICD10 via Orphanet26 Q87.8

Related Diseases for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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17GeneCards, 18GeneDecks
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Diseases related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1beare-stevenson cutis gyrata syndrome10.0FGFR2
2antley-bixler syndrome10.0FGFR2
3sarcoma10.0TWIST1
4osteochondroma10.0FGFR3
5short stature10.0FGFR3
6thyroid cancer10.0FGFR2
7meningioma10.0FGFR2
8osteoglophonic dysplasia10.0FGFR1
9cleft lip10.0FGFR1
10baller-gerold syndrome10.0RECQL4, TWIST1
11osteosarcoma10.0TWIST1, RECQL4
12cervical cancer10.0FGFR3, RECQL4
13achondroplasia10.0FGFR2, FGFR3
14syndactyly10.0FGFR3, FGFR2
15ladd syndrome10.0FGFR2, FGFR3
16thanatophoric dysplasia10.0FGFR2, FGFR3
17acanthosis nigricans10.0FGFR2, FGFR3
18bladder carcinoma10.0FGFR2, FGFR3
19strabismus10.0FGFR3, FGFR2
20infectious mononucleosis10.0FGFR2, FGFR1
21transitional cell carcinoma10.0FGFR3, FGFR2
22nasopharynx carcinoma10.0TWIST1, FGFR1
23retinoblastoma10.0FGFR2, FGFR3
24cleft palate10.0FGFR2, FGFR1, TWIST1
25crouzon syndrome10.0FGFR3, FGFR1, FGFR2
26fgfr-related craniosynostosis syndromes10.0FGFR1, FGFR3, FGFR2
27jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
28acrocephalosyndactylia10.0FGFR3, FGFR1, FGFR2
29hypochondroplasia10.0FGFR2, FGFR1, FGFR3
30skeletal dysplasias10.0FGFR3, FGFR1, FGFR2
31developmental disabilities10.0FGFR3, FGFR1, FGFR2
32dwarfism10.0FGFR2, FGFR1, FGFR3
33pancreatic cancer10.0TWIST1, FGFR1, FGFR2
34chondrosarcoma10.0FGFR3, FGFR1, FGFR2
35breast cancer10.0FGFR2, FGFR1, TWIST1
36colorectal cancer10.0FGFR2, FGFR1, FGFR3
37hepatocellular carcinoma10.0FGFR2, FGFR1, TWIST1
38stomach cancer10.0TWIST1, FGFR3, FGFR2
39melanoma10.0FGFR3, FGFR1, FGFR2
40saethre-chotzen syndrome10.0TWIST1, FGFR3, FGFR1, FGFR2
41muenke syndrome10.0FGFR2, FGFR1, FGFR3, TWIST1
42leukemia10.0RECQL4, FGFR2, FGFR1, FGFR3
43synostosis10.0RECQL4, FGFR2, FGFR1, FGFR3, TWIST1
44craniosynostosis10.0RECQL4, FGFR2, FGFR1, FGFR3, TWIST1

Graphical network of the top 20 diseases related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis:



Diseases related to craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis

Clinical Features for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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48Orphanet
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Symptoms:

48 (show all 40)
  • syndactyly of toes
  • umbilical hernia
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • small/triangular nares/nostrils
  • micrognathia/retrognathia/micrognathism/retrognathism
  • large fontanelle/delayed fontanelle closure
  • bowed diaphysis/diaphyses/long bones
  • laryngomalacia
  • patent ductus arteriosus
  • hypospadias/epispadias/bent penis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • motor deficit/trouble
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autosomal dominant inheritance
  • x-linked recessive inheritance
  • generalized obesity
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • arnold-chiari anomaly
  • short columella/depressed nasal tip
  • depressed nasal bridge
  • short/small nose
  • blepharophimosis/short palpebral fissures
  • mid-facial hypoplasia/short/small midface
  • hypertelorism
  • broad forehead
  • high forehead
  • thin/retracted lips
  • long philtrum
  • low set ears/posteriorly rotated ears
  • hydrocephaly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • micropenis/small penis/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • short hand/brachydactyly
  • radioulnar synostosis
  • pectus carinatum
  • abnormally placed nipples
  • turricephaly/oxycephaly/acrocephaly

Drugs & Therapeutics for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis

Drug clinical trials:

Search ClinicalTrials for Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis

Search NIH Clinical Center for Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis

Search CenterWatch for Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis

Genetic Tests for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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Anatomical Context for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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32MalaCards
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MalaCards organs/tissues related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis:

32
Testes, Bone, Kidney

Animal Models for Craniosynostosis - Hydrocephalus - Chiari I Malformation -... or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3RECQL4
2MP:00107718.7FGFR2, RECQL4, FGFR1
3MP:00053778.5FGFR3, FGFR2, FGFR1
4MP:00053918.1FGFR3, FGFR1, FGFR2, RECQL4
5MP:00053808.1FGFR1, FGFR2, TWIST1, RECQL4
6MP:00053827.8TWIST1, RECQL4, FGFR2, FGFR1, FGFR3
7MP:00053817.7TWIST1, RECQL4, FGFR2, FGFR1, FGFR3
8MP:00053907.7FGFR3, RECQL4, FGFR2, FGFR1, TWIST1
9MP:00053847.7TWIST1, FGFR3, FGFR2, RECQL4, FGFR1
10MP:00053787.6FGFR1, FGFR2, RECQL4, TWIST1, FGFR3
11MP:00107687.2FGFR3, FGFR1, RECQL4, FGFR2, TWIST1

Publications for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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Genetic Variations for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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Expression for genes affiliated with Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis

Search GEO for disease gene expression data for Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis.

Pathways for genes affiliated with Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB, 12EMD Millipore, 59Tocris Bioscience
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Pathways related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0FGFR2
2
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10.0FGFR2
39.1FGFR1, FGFR2
49.0FGFR3, FGFR1
5
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8.5FGFR3, FGFR1, FGFR2
6
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8.5FGFR2, FGFR1, FGFR3
78.5FGFR3, FGFR1, FGFR2
88.5FGFR3, FGFR1, FGFR2
98.5FGFR2, FGFR1, FGFR3
10
Hide members
8.5FGFR2, FGFR1, FGFR3
11
Hide members
8.5FGFR2, FGFR1, FGFR3
12
Hide members
8.5FGFR3, FGFR1, FGFR2
13
Hide members
8.5FGFR2, FGFR1, FGFR3
14
Hide members
8.5FGFR2, FGFR1, FGFR3
15
Hide members
8.5FGFR2, FGFR1, FGFR3
16
Hide members
8.5FGFR2, FGFR1, FGFR3
17
Hide members
8.5FGFR2, FGFR1, FGFR3
18
Hide members
8.5FGFR3, FGFR1, FGFR2
19
Hide members
8.5FGFR2, FGFR1, FGFR3
20
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8.5FGFR3, FGFR1, FGFR2
21
Hide members
8.5FGFR3, FGFR1, FGFR2
228.5FGFR3, FGFR1, FGFR2
238.5FGFR2, FGFR1, FGFR3
24
Hide members
8.5FGFR3, FGFR1, FGFR2
258.5FGFR3, FGFR1, FGFR2
26
Hide members
8.5FGFR2, FGFR1, FGFR3
27
Hide members
8.5FGFR2, FGFR1, FGFR3
288.5FGFR2, FGFR1, FGFR3
29
Hide members
8.5FGFR3, FGFR1, FGFR2
308.5FGFR2, FGFR1, FGFR3
31
Development FGF-family signaling
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8.5FGFR3, FGFR1, FGFR2
32
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8.5FGFR2, FGFR1, FGFR3
33
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8.5FGFR3, FGFR1, FGFR2
34
Hide members
8.5FGFR2, FGFR1, FGFR3
35
Hide members
8.5FGFR3, FGFR1, FGFR2
36
Hide members
8.5FGFR2, FGFR1, FGFR3
37
Hide members
8.5FGFR3, FGFR1, FGFR2
38
Hide members
8.5FGFR2, FGFR1, FGFR3
39
Hide members
8.5FGFR3, FGFR1, FGFR2
408.0TWIST1, FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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11DrugBank, 44Novoseek, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1SU4984119.4FGFR1, FGFR2
2Regorafenib119.3FGFR2, FGFR1
3thalidomide44 49 59 1112.3FGFR3, FGFR2
4suramin44 28 1111.1FGFR1, FGFR2
5chondroitin sulfate44 2410.0FGFR1, FGFR2
6fiin 1 hydrochloride598.8FGFR1, FGFR2, FGFR3
7pd 161570598.8FGFR2, FGFR1, FGFR3
8su 5402598.8FGFR1, FGFR2, FGFR3
9su5402448.8FGFR1, FGFR2, FGFR3
10pd 17307444 599.8FGFR1, FGFR2, FGFR3
11palifermin44 119.8FGFR2, FGFR1, FGFR3
12paclitaxel44 49 1110.8FGFR2, FGFR1, TWIST1
13Ponatinib 118.8FGFR3, FGFR1, FGFR2
14phenylalanine448.7FGFR3, FGFR1, FGFR2
15h2o2448.7RECQL4, FGFR1, FGFR2
16phosphotyrosine448.7FGFR2, FGFR3, FGFR1
17lysine448.7FGFR1, FGFR3, FGFR2
18oligonucleotide448.2FGFR2, FGFR1, FGFR3
19tyrosine448.1FGFR2, FGFR1, FGFR3, TWIST1

GO Terms for genes affiliated with Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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16Gene Ontology
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Cellular components related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160238.5FGFR3, FGFR1, FGFR2

Biological processes related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mitosisGO:0458399.7FGFR2, FGFR3
2lens fiber cell developmentGO:0703079.7FGFR3, FGFR2
3embryonic cranial skeleton morphogenesisGO:0487019.7TWIST1, FGFR2
4bone morphogenesisGO:0603499.6FGFR3, FGFR2
5fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.5FGFR1, FGFR2
6ventricular zone neuroblast divisionGO:0218479.5FGFR1, FGFR2
7mesenchymal cell differentiationGO:0487629.5FGFR2, FGFR1
8outer ear morphogenesisGO:0424739.5TWIST1, FGFR1
9lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
10branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
11positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.4FGFR3, FGFR2
12positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
13positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.4FGFR3, FGFR1
14positive regulation of cell cycleGO:0457879.4FGFR1, FGFR2
15skeletal system morphogenesisGO:0487059.4FGFR1, FGFR2
16midbrain developmentGO:0309019.4FGFR2, FGFR1
17positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
18ureteric bud developmentGO:0016579.3FGFR1, FGFR2
19chondrocyte differentiationGO:0020629.3FGFR1, FGFR3
20inner ear morphogenesisGO:0424729.2FGFR2, FGFR1
21neuron migrationGO:0017649.1TWIST1, FGFR1
22MAPK cascadeGO:0001659.0FGFR3, FGFR1
23positive regulation of ERK1 and ERK2 cascadeGO:0703749.0FGFR3, FGFR2
24in utero embryonic developmentGO:0017018.9FGFR2, FGFR1, TWIST1
25positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
26peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR2
27positive regulation of MAPK cascadeGO:0434108.9FGFR2, FGFR1, FGFR3
28phosphatidylinositol-mediated signalingGO:0480158.9FGFR2, FGFR1, FGFR3
29insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
30protein autophosphorylationGO:0467778.9FGFR3, FGFR1, FGFR2
31fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR2, FGFR1, FGFR3
32Fc-epsilon receptor signaling pathwayGO:0380958.8FGFR2, FGFR1, FGFR3
33epidermal growth factor receptor signaling pathwayGO:0071738.8FGFR3, FGFR1, FGFR2
34neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR2, FGFR1, FGFR3
35positive regulation of cell proliferationGO:0082848.7FGFR2, FGFR1, FGFR3
36innate immune responseGO:0450878.4FGFR2, FGFR1, FGFR3
37negative regulation of transcription from RNA polymerase II promoterGO:0001228.4FGFR2, FGFR1, FGFR3, TWIST1

Molecular functions related to Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428038.6TWIST1, FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.5FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.4FGFR2, FGFR1, FGFR3
5ATP bindingGO:0055247.8FGFR3, FGFR1, FGFR2, RECQL4

Products for genes affiliated with Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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Sources for Craniosynostosis - Hydrocephalus - Chiari I Malformation -...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet