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Monosomy 13q14
1 OMIM reference -
1 associated gene
116 connected diseases
31 signs/symptoms
Disease Type of connection
Familial retinoblastoma
Unilateral retinoblastoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Acute promyelocytic leukemia
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
B-cell chronic lymphocytic leukemia
Chronic myeloid leukemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Giant cell glioblastoma
Gliosarcoma
Coffin-Siris syndrome
Familial rhabdoid tumor
Distal 22q11.2 microdeletion syndrome
Autosomal agammaglobulinemia
Autosomal recessive primary microcephaly
Achondrogenesis type 1A
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
LEOPARD syndrome
Mantle cell lymphoma
Multiple myeloma
Noonan syndrome
Pilocytic astrocytoma
Primary peritoneal carcinoma
X-linked dystonia-parkinsonism
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Dystonia 16
Familial melanoma
Jawad syndrome
Seckel 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, Köbberling 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
Spinocerebellar ataxia type 17
Familial isolated dilated cardiomyopathy
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
12q14 microdeletion syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal dominant nonsyndromic intellectual deficit
Osteosarcoma
Familial partial lipodystrophy associated with PPARG mutations
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Hypocalcemic vitamin D-resistant rickets
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Papillary or follicular thyroid carcinoma
Adrenocortical carcinoma
Cleidocranial dysplasia
Essential thrombocythemia
Marshall-Smith syndrome
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Papilloma of choroid plexus
Renal coloboma syndrome
Sotos syndrome
Branchio-oculo-facial syndrome
Recurrent infection due to specific granule deficiency
Autosomal dominant hyper-IgE syndrome
Berardinelli-Seip congenital lipodystrophy
Multiple endocrine neoplasia type 1
Burkitt lymphoma
MODY syndrome
Neuroblastoma
Permanent neonatal diabetes mellitus
1p36 deletion syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Athyreosis
Shprintzen-Goldberg syndrome
Thyroid hypoplasia
Primary biliary cirrhosis
Beckwith-Wiedemann syndrome due to CDKN1C mutation
IMAGe syndrome
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Atypical teratoid tumor
Familial multiple meningioma
Neurofibromatosis type 3
SHORT syndrome
Hemolytic anemia due to glutathione reductase deficiency
Oculopharyngeal muscular dystrophy
Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RB1 P06400614041
Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Short stature / dwarfism / nanism
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypotonia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short hand / brachydactyly
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli