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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1

46,XY partial gonadal dysgenesis

5 OMIM references -
7 associated genes
9 signs/symptoms

Genes and interactions
Diseases info
Signs and symptoms

Autosomal dominant Larsen syndrome

46,XY partial gonadal dysgenesis

FLNB	(UniProt - OMIM)		GATA4	(UniProt - OMIM)
			MAP3K1	(UniProt - OMIM)
			NR0B1	(UniProt - OMIM)
			NR5A1	(UniProt - OMIM)
			SRY	(UniProt - OMIM)
			WT1	(UniProt - OMIM)
			WWOX	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.68)	MAP3K1

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome
FLNB
46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX

Autosomal dominant Larsen syndrome		46,XY partial gonadal dysgenesis
	Synonym(s): (no synonyms)		Synonym(s): - 46,XY PGD - 46,XY partial testicular dysgenesis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references

Autosomal dominant Larsen syndrome		46,XY partial gonadal dysgenesis
	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		Very frequent - Ambiguous genitalia - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Mixed gonadal dysgenesis - Testis anomalies Occasional - Cortico-adrenal hypoplasia / insufficiency - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)