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Fraser syndrome
1 OMIM reference -
3 associated genes
23 connected diseases
52 signs/symptoms
Disease Type of connection
Estrogen resistance syndrome
Glucocorticoid resistance
Autosomal recessive nonsyndromic intellectual deficit
X-linked intellectual disability due to GRIA3 anomalies
Peripheral resistance to thyroid hormones
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Craniofrontonasal dysplasia
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Aneurysm - osteoarthritis syndrome
Dedifferentiated liposarcoma
Familial thoracic aortic aneurysm and aortic dissection
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Well-differentiated liposarcoma
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Hypocalcemic vitamin D-resistant rickets
Smith-Magenis syndrome
Synonym(s):
- Cryptophthalmos-syndactyly syndrome
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D058497
Gene symbol UniProt reference OMIM reference
FRAS1 Q86XX4607830
FREM2 Q5SZK8608945
GRIP1 Q9Y3R0604597
Very frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Autosomal recessive inheritance
- Cryptophthalmia / ankyloblepharon / synblepharon
- Defect / anomaly of lacrimal system
- Multicystic kidney / renal dysplasia
- Syndactyly of fingers / interdigital palm
- Visual loss / blindness / amblyopia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Ambiguous genitalia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Broad nose / nasal bridge
- Cleft / notched / bifid tongue
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypertelorism
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Larynx / laryngeal stenosis / atresia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of toes
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Abnormal implantation of hair
- Abnormally placed nipples
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Anus ectopia / anteposition / malposition
- Bifid tip / cleft nose / supernumerary nose
- Bladder and ureter anomalies
- Cleft lip
- Cleft lip and palate
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Death in infancy
- Encephalocele / exencephaly
- External auditory canal atresia / stenosis / agenesis
- High vaulted / narrow palate
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Myelomeningocele
- Omphalocele / exomphalos
- Scalp / skull defect
- Stillbirth / neonatal death
- Thin / hypoplastic ala nasi
- Tracheal atresia / stenosis
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies
- Vertebral segmentation anomaly / hemivertebrae