ODCs

Cytoscape Web

Click node...

17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Cabezas syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

17q11 microdeletion syndrome

Cabezas syndrome

NF1	(UniProt - OMIM)		CUL4B	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.76)	CUL4B

Citations in the biomedical literature:

17q11 microdeletion syndrome		Cabezas syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - X-linked intellectual deficit, Cabezas type

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

Cabezas syndrome
	Very frequent - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal gait - Blepharophimosis / short palpebral fissures - Everted lower lip - Generalized obesity - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pes cavus - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short stature / dwarfism / nanism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Tremor - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Occasional - Acanthosis nigricans - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Syndactyly of toes
17q11 microdeletion syndrome
(no data available)