Cryptorchidism, and Psychosis
Diseases related with Cryptorchidism and Psychosis
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Psychosis that can help you solving undiagnosed cases.
Top matches:
Medium match NORRIE DISEASE
Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about NORRIE DISEASEMedium match PROXIMAL 16P11.2 MICRODELETION SYNDROME
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Scoliosis
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about PROXIMAL 16P11.2 MICRODELETION SYNDROMEMedium match KLEEFSTRA SYNDROME 1; KLEFS1
Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects.
KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about KLEEFSTRA SYNDROME 1; KLEFS1
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Other less relevant matches:
Medium match PRADER-WILLI SYNDROME; PWS
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.
PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about PRADER-WILLI SYNDROME; PWS
Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROMELow match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME
X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).
X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROMELow match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
SOURCES: OMIM ORPHANET MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUSLow match WOLFRAM SYNDROME 1; WFS1
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy.
WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Ataxia
- Growth delay
More info about WOLFRAM SYNDROME 1; WFS1
Low match WOODHOUSE-SAKATI SYNDROME
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Hypertelorism
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about WOODHOUSE-SAKATI SYNDROMELow match ASPARTYLGLUCOSAMINURIA; AGU
Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ASPARTYLGLUCOSAMINURIA; AGU
Top 5 symptoms//phenotypes associated to Cryptorchidism and Psychosis
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Scoliosis | Common - Between 50% and 80% cases |
| Behavioral abnormality | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Cryptorchidism and Psychosis. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Generalized hypotonia
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly
Common Symptoms - More than 50% cases
Growth delay
Uncommon Symptoms - Between 30% and 50% cases
Cognitive impairment
Common Symptoms - More than 50% cases
Delayed speech and language development
Uncommon Symptoms - Between 30% and 50% cases
Muscular hypotonia Autism Intellectual disability, severe Intellectual disability, mild Hearing impairment Micropenis Hyperactivity Micrognathia Nystagmus High palate Diabetes mellitus Attention deficit hyperactivity disorder Abnormality of the dentition Aggressive behavior Feeding difficulties Dilatation Short stature Hyperreflexia Cataract Hypogonadism Narrow nasal bridge Small hand Emotional lability Autistic behavior Macroorchidism Hallucinations Hernia Abnormality of the pinna Obesity Hypertelorism Strabismus Cleft palate Motor delay High forehead Intrauterine growth retardation Macrocephaly Ventriculomegaly Anteverted nares Short neck Short nose Brachycephaly Recurrent respiratory infections Atrial septal defect Kyphosis Abnormality of the nervous system Protruding ear EEG abnormality Macrotia Myoclonus Developmental regression Delayed puberty Ataxia Blindness Malar flattening Spasticity Gait disturbance Hydronephrosis Sensorineural hearing impairment Diarrhea Sleep disturbance
Rare Symptoms - Less than 30% cases
Cardiomyopathy Depressed nasal bridge Gastroesophageal reflux Amenorrhea Dehydration Vesicoureteral reflux Joint laxity Inguinal hernia Dysarthria Hypergonadotropic hypogonadism Coarctation of aorta Midface retrusion Bicuspid aortic valve Abnormal facial shape Obsessive-compulsive behavior Recurrent infections Cerebral atrophy Macroglossia Prominent forehead Wide mouth Apnea Upslanted palpebral fissure Agenesis of corpus callosum Constipation Respiratory failure Weight loss Talipes equinovarus Ventricular septal defect Brachydactyly Abnormality of metabolism/homeostasis Thin upper lip vermilion Mental deterioration Long nose Broad forehead Hypermetropia Genu valgum Arachnodactyly Pyloric stenosis Downturned corners of mouth Narrow palpebral fissure Renal cyst Tapered finger Edema Flat face Coarse facial features Peripheral neuropathy Prominent nasal bridge Myopia Congestive heart failure Flexion contracture Self-injurious behavior Gait ataxia Intellectual disability, progressive Babinski sign Stereotypy Dystonia Tremor Thin vermilion border Anxiety Choreoathetosis Deeply set eye Cerebral cortical atrophy Dementia Visual loss Microphthalmia Optic atrophy Failure to thrive Neoplasm Polyphagia Abnormality of extrapyramidal motor function Nasal speech Sleep apnea Frontal bossing Hypertension Low-set ears Ptosis Primary amenorrhea Clumsiness Hypogonadotrophic hypogonadism Hypothyroidism Spastic paraparesis Progressive spastic paraparesis Poor gross motor coordination Abnormally folded helix Acromicria Cat cry Patent ductus arteriosus Oppositional defiant disorder Excessive salivation Hypoplasia of the maxilla Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Slender build Shuffling gait Absent speech Almond-shaped palpebral fissure Long face Open mouth Drooling Rigidity Depressivity Progressive spasticity Thrombocytopenia Hypoplastic labia minora Psychotic episodes Narrow palm Mania Dysphagia Fatigue Neurological speech impairment Joint hyperflexibility Juvenile cataract Hypopnea Impaired social interactions Encephalopathy Dental crowding Aplasia/Hypoplasia of the corpus callosum Apraxia Abnormality of the voice Deep philtrum Schizophrenia Abnormality of the genitourinary system Spastic tetraplegia Poor coordination Disproportionate tall stature Short chin Postnatal microcephaly Narrow face Spastic gait Paraparesis Anorexia Aortic aneurysm Slender finger Bruxism Muscular hypotonia of the trunk Camptodactyly of finger Pneumonia Pes cavus Restlessness Broad thumb Abnormality of the rib cage Abnormal pyramidal sign Pectus excavatum Spastic paraplegia Paraplegia Facial hypotonia Aortic root aneurysm Tetraplegia Parkinsonism Short philtrum Camptodactyly Neurodegeneration Nyctalopia Mitral regurgitation Progressive neurologic deterioration Thick lower lip vermilion Overgrowth Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Ascites Neutropenia Wide nose Platyspondyly Erythema Chronic diarrhea Hepatosplenomegaly Delayed skeletal maturation Long philtrum Splenomegaly Abnormality of the skeletal system Hepatomegaly Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Involuntary movements Gingival overgrowth Abnormal T-wave Visceromegaly Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Vacuolated lymphocytes Abnormality of the ovary Hydrops fetalis Spondylolisthesis Broad face Beaking of vertebral bodies Dysostosis multiplex Palpebral edema Thickened calvaria Muscle fibrillation Pathologic fracture Acne Widely spaced teeth Hoarse voice Aspiration Abnormal spermatogenesis Decreased serum estradiol Abnormal bleeding Neurogenic bladder Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Pollakisuria Respiratory arrest Central diabetes insipidus Histiocytosis Testicular atrophy Stroke-like episode Central apnea Limited mobility of proximal interphalangeal joint Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Blurred vision Hydroureter Diabetes insipidus Abnormality of the urinary system Anosmia Leukoencephalopathy Type I diabetes mellitus Pigmentary retinopathy Impaired collagen-induced platelet aggregation Downslanted palpebral fissures Decreased serum testosterone level Myocardial infarction Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Sparse scalp hair Fine hair Alopecia Bilateral sensorineural hearing impairment Decreased testicular size Dental malocclusion Prominent nose Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Temperature instability Central adrenal insufficiency Growth hormone deficiency Triangular mouth Short toe Combined immunodeficiency Unilateral renal agenesis Anophthalmia Language impairment Hand polydactyly Bilateral ptosis Aortic regurgitation Microretrognathia Hemivertebrae Pointed chin Congenital diaphragmatic hernia Severe combined immunodeficiency Renal agenesis Underdeveloped nasal alae Smooth philtrum Talipes Coloboma Blepharophimosis Polydactyly Posteriorly rotated ears Immunodeficiency Respiratory insufficiency Syringomyelia Arnold-Chiari type I malformation Vascular neoplasm Mandibular prognathia Single transverse palmar crease Highly arched eyebrow Everted lower lip vermilion Poor speech Facial asymmetry Pulmonic stenosis Synophrys Abnormality of the cerebral white matter Abnormal cardiac septum morphology Dyspnea Abnormal heart morphology Severe intrauterine growth retardation Arrhythmia Hypospadias Renal insufficiency Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Multiple renal cysts Wide nasal bridge Anterior chamber synechiae Limitation of joint mobility Hypotelorism Severe vision loss Abnormality of immune system physiology Abnormal retinal morphology Aplasia/Hypoplasia of the cerebellum Ectopia lentis Cachexia Progressive hearing impairment Opacification of the corneal stroma Clonus Intellectual disability, profound Migraine Abnormality of the vasculature Retinal detachment Retinal degeneration Confusion Corneal opacity Retinopathy Irritability Abnormality of the eye Glaucoma Hypertonia Visual impairment Muscle weakness Hypoplasia of the iris Sclerocornea Neoplasm of the eye Leukocoria Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Corneal degeneration Abnormal vitreous humor morphology Posterior synechiae of the anterior chamber Phthisis bulbi Erectile abnormalities Abnormal chorioretinal morphology Vitreoretinopathy Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Retinal fold Retinoblastoma Venous insufficiency Anterior synechiae of the anterior chamber Abnormal pupil morphology Abnormality of the retinal vasculature Abnormality of the helix Retinal dysplasia Delayed eruption of teeth Tetralogy of Fallot Disseminated intravascular coagulation Poor suck Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Radial deviation of finger Hyperinsulinemia Precocious puberty Failure to thrive in infancy Infantile muscular hypotonia Truncal obesity Scrotal hypoplasia Spontaneous abortion Increased body weight Aortic valve stenosis Bradycardia Insulin resistance Cutaneous photosensitivity Type II diabetes mellitus Decreased fetal movement Oligohydramnios Narrow forehead Decreased muscle mass External genital hypoplasia Specific learning disability Chromosome breakage Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Myeloid leukemia Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Abnormality of the cardiovascular system Hip dysplasia Hypoplasia of penis Abnormal renal morphology Epicanthus Pain Tracheobronchomalacia Exaggerated cupid's bow Conotruncal defect U-Shaped upper lip vermilion Bronchomalacia Persistence of primary teeth Abnormal myelination Advanced eruption of teeth Thickened helices Myopathy Self-mutilation Pulmonary artery stenosis Tracheomalacia Protruding tongue Natal tooth Bowel incontinence Supernumerary nipple Impulsivity Apathy Chronic otitis media Tented upper lip vermilion Fever Vomiting Febrile seizures Pruritus Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Hypopigmentation of the skin Short foot Short palm Polymicrogyria Infertility Carious teeth Dolichocephaly Syndactyly Leukemia Stroke Respiratory tract infection Neonatal hypotonia Hypoglycemia Photophobia Osteopenia Narrow mouth Osteoporosis Hyporeflexia Clinodactyly Aspartylglucosaminuria
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