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MMEP syndrome
1 OMIM reference -
1 associated gene
31 connected diseases
12 signs/symptoms
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Generalized pseudohypoaldosteronism type 1
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Idiopathic bronchiectasis
Primary peritoneal carcinoma
Young adult-onset Parkinsonism
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Chronic myeloid leukemia
Chuvash erythrocytosis
Familial hemophagocytic lymphohistiocytosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
LIG4 syndrome
Omenn syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Von Hippel-Lindau disease
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Craniolenticulosutural dysplasia
Idiopathic aplastic anemia
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Shwachman-Diamond syndrome
X-linked osteoporosis with fractures
- Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
- Syndromic microphthalmia type 8
- Viljoen-Smart syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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
SNX3 O60493605930
Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cleft lip and palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Median cleft lip
- Microcephaly
- Oligodactyly / ectrodactyly of toes
- Prognathism / prognathia

- Fingerlike / triphalangeal thumb
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

- Chromosomal or genetic anomaly
- Ventricular septal defect / interventricular communication