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TARP syndrome

1 OMIM reference -
1 associated gene
35 connected diseases
8 signs/symptoms

Disease	Type of connection
Nager syndrome
17p13.3 microduplication syndrome
Burkitt lymphoma
Dentatorubral pallidoluysian atrophy
Distal 17p13.3 microdeletion syndrome
Giant cell glioblastoma
Gliosarcoma
Miller-Dieker syndrome
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Richieri Costa-Pereira syndrome
Translocation renal cell carcinoma
Wolf-Hirschhorn syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, KÃ¶bberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy

Synonym(s): - Pierre Robin sequence - congenital heart defect - talipes - Pierre Robin syndrome - congenital heart defect - talipes - Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare surgical cardiac disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: (no data available)		External references: 1 OMIM reference - 1 MeSH reference: C536942

Gene symbol	UniProt reference	OMIM reference
RBM10	P98175	300080

Very frequent

- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Glossoptosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- X-linked recessive inheritance

Frequent

- Low set ears / posteriorly rotated ears
- Undescended / ectopic testes / cryptorchidia / unfixed testes