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Male infertility with normal virilization due to meiosis defect
4 OMIM references -
3 associated genes
137 connected diseases
No signs/symptoms info
Disease Type of connection
Cystic fibrosis
Congenital bilateral absence of vas deferens
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Amyotrophic lateral sclerosis
Cornelia de Lange syndrome
Hereditary nonpolyposis colon cancer
Autosomal dominant Emery-Dreifuss muscular dystrophy
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Nuclear cataract
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Adult-onset distal myopathy due to VCP mutation
Angelman syndrome
Chronic myeloid leukemia
Distal 22q11.2 microdeletion syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spastic paraplegia - Paget disease of bone
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
CLN4B disease
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Cerebellar ataxia - hypogonadism
CADDS
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Acrokeratosis verruciformis of Hopf
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant hypocalcemia
Autosomal dominant spastic paraplegia type 13
CLN11 disease
Catecholaminergic polymorphic ventricular tachycardia
Darier disease
Early-onset autosomal dominant Alzheimer disease
Encephalopathy due to prosaposin deficiency
Extraskeletal myxoid chondrosarcoma
Familial gastric cancer
Familial hypocalciuric hypercalcemia type 2
Gastric linitis plastica
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary sensory and autonomic neuropathy type 1
Infantile Krabbe disease
Intestinal epithelial dysplasia
Kostmann syndrome
Late-onset autosomal recessive medullary cystic kidney disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Papillary or follicular thyroid carcinoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Primary CD59 deficiency
Severe X-linked mitochondrial encephalomyopathy
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spastic paraplegia-optic atrophy-neuropathy syndrome
Unverricht-Lundborg disease
X-linked Charcot-Marie-Tooth disease type 4
X-linked Emery-Dreifuss muscular dystrophy
Pulverulent cataract
Familial pancreatic carcinoma
Familial prostate cancer
Fanconi anemia
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
APC-related attenuated familial adenomatous polyposis
Annular epidermolytic ichthyosis
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive spastic paraplegia type 18
Baraitser-Winter syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
Brody myopathy
Cap myopathy
Charcot-Marie-Tooth disease type 2B1
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy due to LMNA mutation
Congenital reticular ichthyosiform erythroderma
Desmoid tumor
Developmental malformations - deafness - dystonia
Diffuse palmoplantar keratoderma with painful fissures
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
FG syndrome type 1
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial renal amyloidosis due to Apolipoprotein AII variant
Focal palmoplantar keratoderma with joint keratoses
Gardner syndrome
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Juvenile amyotrophic lateral sclerosis
Juvenile primary lateral sclerosis
Keratosis palmoplantaris striata
LIG4 syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Neuralgic amyotrophy
Omenn syndrome
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Pachyonychia congenita
Primary biliary cirrhosis
Progeria-associated arthropathy
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Sebocystomatosis
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Spinocerebellar ataxia type 12
Turcot syndrome with polyposis
Wolfram syndrome
X-linked intellectual deficit with marfanoid habitus
Nance-Horan syndrome
Total congenital cataract
Christianson syndrome
Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CFTR P13569602421
SOHLH1 Q5JUK2610224
SYCP3 Q8IZU3604759
No signs/symptoms info available.