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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 1
73 OMIM references -
54 associated genes
No signs/symptoms info
Costello syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

HRAS BSND
KRAS CABP2
CDH23
CIB2
CLDN14
COL11A2
DFNB31
DFNB59
ELMOD3
ESPN
ESRRB
GIPC3
GJA1
GJB2
GJB3
GJB6
GPSM2
GRXCR1
HGF
ILDR1
KARS
KCNJ10
LHFPL5
LOXHD1
LRTOMT
MARVELD2
MSRB3
MYO15A
MYO3A
MYO6
MYO7A
OTOA
OTOF
OTOG
OTOGL
PCDH15
PNPT1
PTPRQ
RDX
SERPINB6
SLC26A4
SLC26A5
SLITRK6
STRC
SYNE4
TBC1D24
TECTA
TMC1
TMIE
TMPRSS3
TPRN
TRIOBP
TSPEAR
USH1C


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.73)
GPSM2



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
BSND CABP2 CDH23 CIB2 CLDN14 COL11A2
DFNB31 DFNB59 ELMOD3 ESPN ESRRB GIPC3
GJA1 GJB2 GJB3 GJB6 GPSM2 GRXCR1
HGF ILDR1 KARS KCNJ10 LHFPL5 LOXHD1
LRTOMT MARVELD2 MSRB3 MYO15A MYO3A MYO6
MYO7A OTOA OTOF OTOG OTOGL PCDH15
PNPT1 PTPRQ RDX SERPINB6 SLC26A4 SLC26A5
SLITRK6 STRC SYNE4 TBC1D24 TECTA TMC1
TMIE TMPRSS3 TPRN TRIOBP TSPEAR USH1C



Costello syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

Synonym(s):
- FCS syndrome
- Faciocutaneoskeletal syndrome
- Intellectual deficit - nasal papillomata

Synonym(s):
- Autosomal recessive isolated neurosensory deafness type DFNB
- Autosomal recessive isolated sensorineural deafness type DFNB
- Autosomal recessive nonsyndromic neurosensory deafness type DFNB

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D056685
External references:
73 OMIM references -
No MeSH references

Costello syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Depressed nasal bridge
- Enamel anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary valve atresia / stenosis / narrowing
- Short neck
- Short stature / dwarfism / nanism
- Thin / hypoplastic / hyperconvex fingernails
- Tight skin / lack of elasticity
- Ventricular septal defect / interventricular communication
- Woolly / frizzy hair

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal dermatoglyphics
- Broad cheeks / cherub-like / cherubin face
- Cardiomyopathy / hypertrophic / dilated
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- Excess nuchal skin without pterygium colli
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Polyhydramnios
- Strabismus / squint
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thick lips
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Warts / papillomas

Occasional
- Coarse face
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hair and scalp anomalies
- Large face
- Low set ears / posteriorly rotated ears
- Thick / wide ear lobe


Autosomal recessive nonsyndromic sensorineural deafness type DFNB

(no data available)