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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
38 signs/symptoms
Semantic dementia
Osteodysplasty, Melnick-Needles type

C9ORF72 FLNA
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
(0.89)
FLNA



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Osteodysplasty, Melnick-Needles type
FLNA



Semantic dementia
Osteodysplasty, Melnick-Needles type

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

Synonym(s):
- Melnick-Needles syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant

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

Osteodysplasty, Melnick-Needles type

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Cortical anomaly / thick bone cortical layer
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Long foot / arachnodactyly of toes
- Long hand / arachnodactyly
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Prominent supraorbital ridge
- Proptosis / exophthalmos
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- X-linked dominant inheritance

Frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Broad cheeks / cherub-like / cherubin face
- Cardiac septal defect
- Clavicle absent / abnormal
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Repeat respiratory infections
- Rib structure anomalies
- Scoliosis
- Terminal / third phalangeal bone of fingers hypoplasia
- Vesicorenal / vesicoureteral reflux

Occasional
- Omphalocele / exomphalos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Stillbirth / neonatal death


Semantic dementia

(no data available)