Cytoscape Web
Click node...

Autosomal dominant Larsen syndrome
1 OMIM reference -
1 associated gene
27 signs/symptoms
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
Autosomal dominant Larsen syndrome
B-cell chronic lymphocytic leukemia

FLNB
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLNB
(0.63)
ATM


Citations in the biomedical literature:


Autosomal dominant Larsen syndrome
FLNB
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



Autosomal dominant Larsen syndrome
B-cell chronic lymphocytic leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451
Autosomal dominant Larsen syndrome

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Broad / bifid thumb
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Flat face
- Frontal bossing / prominent forehead
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Joint dislocation / subluxation
- Long hand / arachnodactyly
- Short hand / brachydactyly

Frequent
- Wrist / carpal anomalies

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Craniostenosis / craniosynostosis / sutural synostosis
- Epiphyseal anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Short stature / dwarfism / nanism
- Structural anomalies of the cardio-circulatory system
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vertebral segmentation anomaly / hemivertebrae


B-cell chronic lymphocytic leukemia

(no data available)