Cryptorchidism, and Optic atrophy

Diseases related with Cryptorchidism and Optic atrophy

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

Top matches:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

High match STT3B-CDG

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

High match STT3A-CDG

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Other less relevant matches:

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

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

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

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

COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Optic atrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Cryptorchidism and Optic atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Micropenis Absent speech Hypoplasia of the corpus callosum Scrotal hypoplasia Short nose Cerebellar atrophy Failure to thrive Feeding difficulties Intrauterine growth retardation Respiratory distress Hyperreflexia Abnormal glycosylation Strabismus Encephalopathy Muscular hypotonia of the trunk Thrombocytopenia

Rare Symptoms - Less than 30% cases

Aciduria Hypertonia Postnatal growth retardation Abnormal vertebral morphology Hearing impairment Long eyelashes Flexion contracture Polymicrogyria Cataract Ataxia Nystagmus Proptosis Growth delay Ventriculomegaly Poor eye contact Abnormality of the genital system Cerebral atrophy Dysmetria Long palpebral fissure Abnormality of brainstem morphology Delayed fine motor development Abnormality of the cerebral cortex Visual fixation instability Hypertelorism Short stature Cognitive impairment Brachydactyly Progressive encephalopathy Abnormality of the skeletal system Abnormality of the vertebral column Obesity Progressive spasticity Titubation Cortical gyral simplification Brain atrophy Cerebral cortical atrophy Thin upper lip vermilion Irritability Abnormality of the cerebral white matter Highly arched eyebrow Decreased activity of the pyruvate dehydrogenase complex Delayed myelination Poor head control Underdeveloped nasal alae Esotropia Acute encephalopathy Progressive microcephaly Sensorimotor neuropathy Delayed gross motor development Patent ductus arteriosus Aminoaciduria Pneumonia Blindness Recurrent aspiration pneumonia Metabolic acidosis Muscular hypotonia Epicanthus Edema Neurodegeneration Vomiting Tetraplegia Dystonia Agenesis of corpus callosum Myoclonus Acidosis Developmental regression Lethargy Thick hair Tracheal stenosis Truncal ataxia Downturned corners of mouth Gastroesophageal reflux Spastic tetraplegia Coarse facial features Tetralogy of Fallot Abnormal cardiac septum morphology Thick eyebrow Vesicoureteral reflux Aspiration pneumonia Round face Abnormal lung morphology Increased serum lactate Aspiration Horseshoe kidney Laryngomalacia Chronic lung disease Congenital cataract Wide nasal bridge Decreased testicular size Hypospadias Arrhythmia Hypoglycemia Dilated cardiomyopathy Hepatic steatosis Sudden cardiac death Mitral regurgitation Cardiomyopathy Prolonged QT interval Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Congestive heart failure Motor delay Glutaric aciduria Inability to walk Decreased liver function Optic nerve hypoplasia Impaired smooth pursuit Coloboma Hypermetropia Iris coloboma Febrile seizures Anemia Epileptic encephalopathy Hypsarrhythmia Tetraparesis Spastic tetraparesis CNS hypomyelination Delayed ability to walk Muscle weakness Nonprogressive cerebellar ataxia Testicular dysgenesis Peripheral neuropathy Global brain atrophy Severe global developmental delay Microcornea Postnatal microcephaly Low anterior hairline Overlapping toe Spastic diplegia Hypoplastic labia majora Macrotia Asymmetry of the ears Undetectable visual evoked potentials Spasticity High palate Delayed speech and language development Visual impairment Prominent nasal bridge Brachycephaly Noncompaction cardiomyopathy Syndactyly 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Micrognathia Cleft palate Myopia Deeply set eye Microphthalmia Toe syndactyly Bifid uvula Heterotopia 2-3 toe syndactyly Abnormality of neuronal migration Cortical dysplasia Intellectual disability, severe Encephalomalacia


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