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Intellectual deficit, X-linked, Turner type
1 OMIM reference -
1 associated gene
57 connected diseases
No signs/symptoms info
Disease Type of connection
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Gliosarcoma
Retinitis pigmentosa
Adrenocortical carcinoma
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Burkitt lymphoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Familial melanoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Ear-patella-short stature syndrome
Noonan syndrome-like disorder with loose anagen hair
Familial gastric cancer
MUTYH-related attenuated familial adenomatous polyposis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant optic atrophy plus syndrome
Behavioral variant of frontotemporal dementia
Estrogen resistance syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary site-specific ovarian cancer syndrome
Heritable pulmonary arterial hypertension
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
LEOPARD syndrome
Microcephalic primordial dwarfism, Alazami type
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Noonan syndrome
Pilocytic astrocytoma
Primary peritoneal carcinoma
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Severe early-onset axonal neuropathy due to MFN2 deficiency
Spastic paraplegia - Paget disease of bone
Split hand-split foot malformation
Catecholaminergic polymorphic ventricular tachycardia
Chronic myeloid leukemia
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HUWE1 Q7Z6Z7300697
No signs/symptoms info available.