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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
15 OMIM references -
16 associated genes
101 signs/symptoms
Semantic dementia
Fanconi anemia

C9ORF72 BRCA2
CHMP2B BRIP1
GRN ERCC4
MAPT FANCA
PSEN1 FANCB
VCP FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
PALB2
RAD51C
SLX4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
VCP
(0.63)
(0.63)
FANCI
SLX4



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Fanconi anemia
BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC
FANCD2 FANCE FANCF FANCG FANCI FANCL
FANCM PALB2 RAD51C SLX4



Semantic dementia
Fanconi anemia

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- Fanconi pancytopenia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
15 OMIM references -
1 MeSH reference: D005199

Fanconi anemia

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anaemia
- Anomalies of the hematological system
- Autosomal recessive inheritance
- Bone marrow failure / pancytopenia
- Chromosome breakage
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Leukopenia / hypoleukocytosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short stature / dwarfism / nanism
- Thrombocytopenia / thrombopenia
- Thumb anomalies (excluding hypoplasia)
- Upper limb segmental anomalies

Frequent
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Neoplasms / tumors
- Scoliosis
- Structural anomalies of the kidney and the urinary tract

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Aniridia / iris hypoplasia
- Anomalies of ear and hearing
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Astigmatism
- Atrial septal defect / interauricular communication
- Azoospermia / oligospermia / asthenospermia
- Bladder and ureter anomalies
- Cafe-au-lait spot
- Cardiomyopathy / hypertrophic / dilated
- Carotid artery anomalies
- Cataract / lens opacification
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Cranial nerves palsy
- Dilated cerebral ventricles without hydrocephaly
- Dolichocephaly / scaphocephaly
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Duodenal atresia / stenosis / megaduodenum
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- External ear anomalies
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fingerlike / triphalangeal thumb
- Flat foot
- Foot anomalies
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hydrocephaly
- Hypereflexia
- Hypertelorism
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic / aplastic uvula
- Hypospadias / epispadias / bent penis
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intrauterine growth retardation
- Irregular length / shape of fingers
- Late puberty / hypogonadism / hypogenitalism
- Meckel diverticulum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myelodysplastic syndrome
- Nystagmus
- Oligoamnios
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Patent ductus arteriosus
- Phimosis / preputial adhesions / paraphimosis
- Proptosis / exophthalmos
- Ptosis
- Recurrent urinary infections
- Renal failure
- Sloping forehead
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Spina bifida
- Stillbirth / neonatal death
- Strabismus / squint
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the nervous system
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Terminal broadening / clubbing of toes
- Testis anomalies
- Tetralogy of Fallot / trilogy of Fallot
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Uterine / uterus / Fallopian tubes anomalies
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration


Semantic dementia

(no data available)