Cryptorchidism, and Amyotrophic lateral sclerosis

Diseases related with Cryptorchidism and Amyotrophic lateral sclerosis

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Amyotrophic lateral sclerosis that can help you solving undiagnosed cases.


Top matches:

High match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6


MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

Low match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Low match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Low match WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 10


Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Low match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Encephalopathy Ventriculomegaly Hyperreflexia Optic atrophy Micropenis Short nose Abnormal facial shape Hypoplasia of the corpus callosum Intellectual disability, severe Microcephaly Spasticity Ataxia Cerebral cortical atrophy Scrotal hypoplasia Flexion contracture Macrotia Absent speech Poor eye contact Nystagmus Neurodegeneration Cerebral atrophy

Rare Symptoms - Less than 30% cases


Prominent nose Difficulty walking Tremor Peripheral neuropathy Proximal spinal muscular atrophy Developmental regression Focal impaired awareness seizure Abnormal cerebellum morphology Intention tremor Gynecomastia Hypsarrhythmia Polymicrogyria Intellectual disability, moderate Decreased fertility Muscular hypotonia of the trunk Autism Dystonia Hypertonia Atrial septal defect Visual impairment Long face Microphallus Dysmetria Motor delay Inguinal hernia Areflexia Hypospadias Delayed speech and language development Cerebellar hypoplasia Prominent forehead Hypoplasia of penis Abnormality of metabolism/homeostasis Gait ataxia Mandibular prognathia Thin upper lip vermilion Myopathy Deeply set eye Cognitive impairment Scoliosis Muscle weakness Spinal muscular atrophy Wide nasal bridge Skeletal muscle atrophy Gait disturbance Macrocephaly Postnatal growth retardation Urethral atresia, male Cloacal abnormality Absent penis Urethral fistula Incomplete male pseudohermaphroditism Prominent nasal bridge Brachycephaly Infra-orbital crease Microphthalmia Prominent supraorbital ridges Congenital cataract Triangular face Neurological speech impairment Short philtrum Attention deficit hyperactivity disorder Focal-onset seizure Neonatal hypotonia Hypotelorism Cerebellar vermis hypoplasia External genital hypoplasia Cataract Long nose Enlarged cisterna magna Hyperactivity Abnormality of the philtrum Retrocerebellar cyst Dilatation Poor speech Frontal bossing Disorganization of the anterior cerebellar vermis Severe global developmental delay Brain atrophy Microcornea Truncal ataxia Decreased activity of the pyruvate dehydrogenase complex Acute encephalopathy Titubation Progressive encephalopathy Abnormality of the vertebral column Aminoaciduria Abnormal vertebral morphology Sensorineural hearing impairment Spastic tetraplegia Tetralogy of Fallot Aciduria Increased serum lactate Tetraplegia Metabolic acidosis Encephalomalacia Hydrocephalus Acidosis Choreoathetosis High-frequency hearing impairment Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Pointed chin Narrow face Cerebral calcification Dementia Dandy-Walker malformation Thick vermilion border Wide mouth Protruding ear Aggressive behavior Coarse facial features High forehead Lethargy Myoclonus Postnatal microcephaly High palate Delayed myelination Fetal pyelectasis Highly arched eyebrow Abnormality of the cerebral white matter Irritability Proptosis Growth delay Esotropia Undetectable visual evoked potentials Asymmetry of the ears Hypoplastic labia majora Global brain atrophy Spastic diplegia Overlapping toe Low anterior hairline Underdeveloped nasal alae Long eyelashes Agenesis of corpus callosum Abnormality of the cerebral cortex Vomiting Blindness Edema Epicanthus Feeding difficulties Visual fixation instability Delayed fine motor development Progressive microcephaly Abnormality of brainstem morphology Long palpebral fissure Progressive spasticity Cortical gyral simplification Poor head control Delayed gross motor development Sensorimotor neuropathy Rectal fistula Ventricular septal defect Unilateral renal hypoplasia Muscle cramps Dysarthria Dysphagia Hyporeflexia Elevated serum creatine phosphokinase Pneumonia Proximal muscle weakness Myalgia Muscular dystrophy Limb muscle weakness Infertility Facial asymmetry Sensory neuropathy Type II diabetes mellitus Skin dimples Progressive muscle weakness Fasciculations Aspiration Hyperlipidemia Dysphonia Limb-girdle muscular dystrophy Calf muscle hypertrophy Impotence Bulbar palsy Muscle fibrillation Axonal loss Abnormality of lipid metabolism Pain Degeneration of anterior horn cells Abnormality of the mouth Wide intermamillary distance Micrognathia Ptosis Short neck Respiratory insufficiency Kyphosis Long philtrum Hernia Facial palsy Joint stiffness Camptodactyly of finger Dolichocephaly Arthrogryposis multiplex congenita Narrow chest Decreased fetal movement Tongue fasciculations Interphalangeal joint contracture of finger Open mouth Bilateral single transverse palmar creases Abnormality of the fingernails Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Adducted thumb Failure to thrive in infancy Congenital contracture Proximal placement of thumb Myopathic facies Multiple joint contractures Thickened nuchal skin fold Overweight Hand tremor Bilateral lung agenesis Tracheoesophageal fistula CNS hypomyelination Delayed ability to walk Depressed nasal bridge Posteriorly rotated ears Hydronephrosis Anal atresia Pulmonary hypoplasia Ambiguous genitalia Oligohydramnios Abnormality of the hair Abnormality of the voice Bifid scrotum Bilateral talipes equinovarus Tetraparesis Hydroureter Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Spastic tetraparesis Epileptic encephalopathy Aspiration pneumonia Behavioral abnormality Bulbar signs Distal lower limb amyotrophy Oligospermia Kinetic tremor Testicular atrophy Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Pes planus Febrile seizures EEG abnormality Autistic behavior Dyskinesia Chorea Status epilepticus Choanal atresia Cerebral visual impairment Generalized tonic-clonic seizures with focal onset Cerebellar atrophy Coloboma Hypermetropia Iris coloboma Inability to walk Abnormality of the basal ganglia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Micropenis, related diseases and genetic alterations Hyperreflexia and Sepsis, related diseases and genetic alterations Hydrocephalus and Nephritis, related diseases and genetic alterations Ptosis and Abnormality of the kidney, related diseases and genetic alterations

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